psui3905/ncbi_genes_summary huggingface dataset:
COL5A3, Official Symbol COL5A3provided by HGNC Official Full Name collagen type V alpha 3 chainprovided by HGNC Primary source HGNC:HGNC:14864 See related Ensembl:ENSG00000080573 MIM:120216; AllianceGenome:HGNC:14864 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 20.1), fat (RPKM 19.6) and 20 other tissues See more Orthologs mouse all
COL6A1, Official Symbol COL6A1provided by HGNC Official Full Name collagen type VI alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2211 See related Ensembl:ENSG00000142156 MIM:120220; AllianceGenome:HGNC:2211 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OPLL; BTHLM1; UCHMD1 Summary The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 211.0), endometrium (RPKM 191.1) and 23 other tissues See more Orthologs mouse all
COL6A2, Official Symbol COL6A2provided by HGNC Official Full Name collagen type VI alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2212 See related Ensembl:ENSG00000142173 MIM:120240; AllianceGenome:HGNC:2212 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UCMD1; BTHLM1; PP3610 Summary This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 164.0), endometrium (RPKM 155.3) and 22 other tissues See more Orthologs mouse all
COL6A3, Official Symbol COL6A3provided by HGNC Official Full Name collagen type VI alpha 3 chainprovided by HGNC Primary source HGNC:HGNC:2213 See related Ensembl:ENSG00000163359 MIM:120250; AllianceGenome:HGNC:2213 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DYT27; UCMD1; BTHLM1 Summary This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009] Expression Broad expression in gall bladder (RPKM 140.2), endometrium (RPKM 95.0) and 16 other tissues See more Orthologs mouse all
COL6A5, Official Symbol COL6A5provided by HGNC Official Full Name collagen type VI alpha 5 chainprovided by HGNC Primary source HGNC:HGNC:26674 See related Ensembl:ENSG00000172752 MIM:611916; AllianceGenome:HGNC:26674 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VWA4; COL29A1 Summary This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Biased expression in skin (RPKM 1.9), lung (RPKM 1.6) and 8 other tissues See more Orthologs mouse all
COL6A6, Official Symbol COL6A6provided by HGNC Official Full Name collagen type VI alpha 6 chainprovided by HGNC Primary source HGNC:HGNC:27023 See related Ensembl:ENSG00000206384 MIM:616613; AllianceGenome:HGNC:27023 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017] Expression Biased expression in lung (RPKM 3.3), fat (RPKM 0.9) and 7 other tissues See more Orthologs mouse all
COL7A1, Official Symbol COL7A1provided by HGNC Official Full Name collagen type VII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2214 See related Ensembl:ENSG00000114270 MIM:120120; AllianceGenome:HGNC:2214 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBD1; EBR1; EBDCT; NDNC8 Summary This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 63.4), endometrium (RPKM 13.0) and 5 other tissues See more Orthologs mouse all
COL8A1, Official Symbol COL8A1provided by HGNC Official Full Name collagen type VIII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2215 See related Ensembl:ENSG00000144810 MIM:120251; AllianceGenome:HGNC:2215 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C3orf7 Summary This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011] Expression Biased expression in urinary bladder (RPKM 16.8), lung (RPKM 16.6) and 13 other tissues See more Orthologs mouse all
COL8A2, Official Symbol COL8A2provided by HGNC Official Full Name collagen type VIII alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2216 See related Ensembl:ENSG00000171812 MIM:120252; AllianceGenome:HGNC:2216 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FECD; PPCD; FECD1; PPCD2 Summary This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Broad expression in placenta (RPKM 6.6), spleen (RPKM 3.6) and 22 other tissues See more Orthologs mouse all
COL9A1, Official Symbol COL9A1provided by HGNC Official Full Name collagen type IX alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2217 See related Ensembl:ENSG00000112280 MIM:120210; AllianceGenome:HGNC:2217 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MED; EDM6; STL4; DJ149L1.1.2 Summary This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 6.1), testis (RPKM 1.3) and 6 other tissues See more Orthologs mouse all
COL9A2, Official Symbol COL9A2provided by HGNC Official Full Name collagen type IX alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2218 See related Ensembl:ENSG00000049089 MIM:120260; AllianceGenome:HGNC:2218 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MED; EDM2; STL5; DJ39G22.4 Summary This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 5.8), brain (RPKM 5.5) and 20 other tissues See more Orthologs mouse all
COL9A3, Official Symbol COL9A3provided by HGNC Official Full Name collagen type IX alpha 3 chainprovided by HGNC Primary source HGNC:HGNC:2219 See related Ensembl:ENSG00000092758 MIM:120270; AllianceGenome:HGNC:2219 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IDD; MED; EDM3; STL6; DJ885L7.4.1 Summary This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] Expression Broad expression in thyroid (RPKM 8.5), salivary gland (RPKM 6.2) and 17 other tissues See more Orthologs mouse all
COLCA1, Official Symbol COLCA1provided by HGNC Official Full Name colorectal cancer associated 1provided by HGNC Primary source HGNC:HGNC:33789 See related Ensembl:ENSG00000196167 MIM:615693; AllianceGenome:HGNC:33789 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CASC12; C11orf92; LOH11CR1F Summary This gene encodes a transmembrane protein that localizes to granular structures, including crystalloid eosinophilic granules and other granular organelles. This gene, along with an overlapping opposite strand gene, has been implicated as a susceptibility locus for colorectal cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014] Expression Broad expression in stomach (RPKM 15.6), prostate (RPKM 11.1) and 14 other tissues See more Orthologs all
COLEC10, Official Symbol COLEC10provided by HGNC Official Full Name collectin subfamily member 10provided by HGNC Primary source HGNC:HGNC:2220 See related Ensembl:ENSG00000184374 MIM:607620; AllianceGenome:HGNC:2220 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 3MC3; CLL1; CL-10; CL-34 Summary This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 17.0), placenta (RPKM 3.8) and 2 other tissues See more Orthologs mouse all
COLEC11, Official Symbol COLEC11provided by HGNC Official Full Name collectin subfamily member 11provided by HGNC Primary source HGNC:HGNC:17213 See related Ensembl:ENSG00000118004 MIM:612502; AllianceGenome:HGNC:17213 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 3MC2; CLK1; CL-11; CL-K1-I; CL-K1-II; CL-K1-IIa; CL-K1-IIb Summary This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in gall bladder (RPKM 20.2), liver (RPKM 13.5) and 9 other tissues See more Orthologs mouse all
COLEC12, Official Symbol COLEC12provided by HGNC Official Full Name collectin subfamily member 12provided by HGNC Primary source HGNC:HGNC:16016 See related Ensembl:ENSG00000158270 MIM:607621; AllianceGenome:HGNC:16016 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CLP1; NSR2; SRCL; SCARA4 Summary This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018] Expression Broad expression in placenta (RPKM 63.7), lung (RPKM 26.0) and 17 other tissues See more Orthologs mouse all
COLGALT1, Official Symbol COLGALT1provided by HGNC Official Full Name collagen beta(1-O)galactosyltransferase 1provided by HGNC Primary source HGNC:HGNC:26182 See related Ensembl:ENSG00000130309 MIM:617531; AllianceGenome:HGNC:26182 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BSVD3; GLT25D1; ColGalT 1 Summary The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in placenta (RPKM 27.5), appendix (RPKM 22.9) and 25 other tissues See more Orthologs mouse all
COLGALT2, Official Symbol COLGALT2provided by HGNC Official Full Name collagen beta(1-O)galactosyltransferase 2provided by HGNC Primary source HGNC:HGNC:16790 See related Ensembl:ENSG00000198756 MIM:617533; AllianceGenome:HGNC:16790 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C1orf17; GLT25D2; ColGalT 2 Summary Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 11.8), adrenal (RPKM 2.5) and 7 other tissues See more Orthologs mouse all
COLQ, Official Symbol COLQprovided by HGNC Official Full Name collagen like tail subunit of asymmetric acetylcholinesteraseprovided by HGNC Primary source HGNC:HGNC:2226 See related Ensembl:ENSG00000206561 MIM:603033; AllianceGenome:HGNC:2226 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EAD; CMS5 Summary This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 7.4), lymph node (RPKM 2.8) and 19 other tissues See more Orthologs mouse all
COMETT, Official Symbol COMETTprovided by HGNC Official Full Name cytosolic oncogenic antisense to MET transcriptprovided by HGNC Primary source HGNC:HGNC:51196 See related AllianceGenome:HGNC:51196 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COMET; LINC01510 Summary This gene encodes a natural antisense transcript highly expressed in papillary thyroid carcinomas harboring BRAF V600E mutation or RET gene rearrangements. This lncRNA induces the downstream MAPK pathway and is part of a co-expression network including different oncogenes belonging to the MAPK and PI3H/AKT pathways. In thyroid carcinomas, this gene has oncogenic properties associated with increased proliferation and drug resistance. [provided by RefSeq, Jan 2020] Expression Restricted expression toward kidney (RPKM 8.2) See more
COMMD1, Official Symbol COMMD1provided by HGNC Official Full Name copper metabolism domain containing 1provided by HGNC Primary source HGNC:HGNC:23024 See related Ensembl:ENSG00000173163 MIM:607238; AllianceGenome:HGNC:23024 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MURR1; C2orf5 Summary Enables several functions, including phosphatidylinositol-3,4-bisphosphate binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including Golgi to plasma membrane transport; negative regulation of protein localization to cell surface; and regulation of cellular protein metabolic process. Acts upstream of or within negative regulation of NF-kappaB transcription factor activity. Located in cytosol; endosome; and nucleoplasm. Part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 5.7), testis (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
COMMD10, Official Symbol COMMD10provided by HGNC Official Full Name COMM domain containing 10provided by HGNC Primary source HGNC:HGNC:30201 See related Ensembl:ENSG00000145781 MIM:616704; AllianceGenome:HGNC:30201 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PTD002 Summary Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 1.4), adrenal (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
COMMD2, Official Symbol COMMD2provided by HGNC Official Full Name COMM domain containing 2provided by HGNC Primary source HGNC:HGNC:24993 See related Ensembl:ENSG00000114744 MIM:616699; AllianceGenome:HGNC:24993 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSPC042 Summary Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 7.0), lung (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
COMMD3, Official Symbol COMMD3provided by HGNC Official Full Name COMM domain containing 3provided by HGNC Primary source HGNC:HGNC:23332 See related Ensembl:ENSG00000148444 MIM:616700; AllianceGenome:HGNC:23332 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BUP; C10orf8 Summary Predicted to be involved in sodium ion transport. Predicted to be located in extracellular region and ficolin-1-rich granule lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 26.0), appendix (RPKM 25.1) and 25 other tissues See more Orthologs mouse all
COMMD3-BMI1, Official Symbol COMMD3-BMI1provided by HGNC Official Full Name COMMD3-BMI1 readthroughprovided by HGNC Primary source HGNC:HGNC:48326 See related Ensembl:ENSG00000269897 AllianceGenome:HGNC:48326 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BMI1; PCGF4; RNF51 Summary This locus represents naturally occurring read-through transcription between the neighboring COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in testis (RPKM 24.5), endometrium (RPKM 22.5) and 25 other tissues See more
COMMD4, Official Symbol COMMD4provided by HGNC Official Full Name COMM domain containing 4provided by HGNC Primary source HGNC:HGNC:26027 See related Ensembl:ENSG00000140365 MIM:616701; AllianceGenome:HGNC:26027 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 15.5), adrenal (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
COMMD4P1, Official Symbol COMMD4P1provided by HGNC Official Full Name COMM domain containing 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51909 See related AllianceGenome:HGNC:51909 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 3.3), thyroid (RPKM 0.2) and 5 other tissues See more
COMMD4P2, Official Symbol COMMD4P2provided by HGNC Official Full Name COMM domain containing 4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51910 See related AllianceGenome:HGNC:51910 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.9) See more
COMMD5, Official Symbol COMMD5provided by HGNC Official Full Name COMM domain containing 5provided by HGNC Primary source HGNC:HGNC:17902 See related Ensembl:ENSG00000170619 MIM:608216; AllianceGenome:HGNC:17902 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HCARG; HT002 Summary Predicted to be involved in proximal tubule morphogenesis. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 4.8), spleen (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
COMMD6, Official Symbol COMMD6provided by HGNC Official Full Name COMM domain containing 6provided by HGNC Primary source HGNC:HGNC:24015 See related Ensembl:ENSG00000188243 MIM:612377; AllianceGenome:HGNC:24015 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Acrg Summary COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009] Expression Ubiquitous expression in ovary (RPKM 31.5), adrenal (RPKM 27.0) and 25 other tissues See more Orthologs mouse all
COMMD7, Official Symbol COMMD7provided by HGNC Official Full Name COMM domain containing 7provided by HGNC Primary source HGNC:HGNC:16223 See related Ensembl:ENSG00000149600 MIM:616703; AllianceGenome:HGNC:16223 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C20orf92; dJ1085F17.3 Summary Enables NF-kappaB binding activity. Involved in negative regulation of NF-kappaB transcription factor activity; negative regulation of transcription, DNA-templated; and tumor necrosis factor-mediated signaling pathway. Predicted to be located in cytoplasmic vesicle. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 17.9), placenta (RPKM 13.5) and 25 other tissues See more Orthologs mouse all
COMMD8, Official Symbol COMMD8provided by HGNC Official Full Name COMM domain containing 8provided by HGNC Primary source HGNC:HGNC:26036 See related Ensembl:ENSG00000169019 MIM:616656; AllianceGenome:HGNC:26036 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in kidney (RPKM 8.5), testis (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
COMMD9, Official Symbol COMMD9provided by HGNC Official Full Name COMM domain containing 9provided by HGNC Primary source HGNC:HGNC:25014 See related Ensembl:ENSG00000110442 MIM:612299; AllianceGenome:HGNC:25014 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSPC166; C11orf55; LINC00610 Summary Predicted to be involved in sodium ion transport. Predicted to act upstream of or within cholesterol homeostasis. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 8.8), brain (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
COMP, Official Symbol COMPprovided by HGNC Official Full Name cartilage oligomeric matrix proteinprovided by HGNC Primary source HGNC:HGNC:2227 See related Ensembl:ENSG00000105664 MIM:600310; AllianceGenome:HGNC:2227 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MED; CTS2; EDM1; EPD1; TSP5; PSACH; THBS5; TSP-5 Summary The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016] Expression Biased expression in gall bladder (RPKM 9.2), urinary bladder (RPKM 5.7) and 11 other tissues See more Orthologs mouse all
COMT, Official Symbol COMTprovided by HGNC Official Full Name catechol-O-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:2228 See related Ensembl:ENSG00000093010 MIM:116790; AllianceGenome:HGNC:2228 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HEL-S-98n Summary Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in placenta (RPKM 32.2), adrenal (RPKM 24.9) and 25 other tissues See more Orthologs mouse all
COMTD1, Official Symbol COMTD1provided by HGNC Official Full Name catechol-O-methyltransferase domain containing 1provided by HGNC Primary source HGNC:HGNC:26309 See related Ensembl:ENSG00000165644 AllianceGenome:HGNC:26309 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable S-adenosylmethionine-dependent methyltransferase activity. Predicted to be involved in methylation. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 11.0), stomach (RPKM 8.5) and 24 other tissues See more Orthologs mouse all
COP1, Official Symbol COP1provided by HGNC Official Full Name COP1 E3 ubiquitin ligaseprovided by HGNC Primary source HGNC:HGNC:17440 See related Ensembl:ENSG00000143207 MIM:608067; AllianceGenome:HGNC:17440 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAP78; RFWD2; CFAP78; RNF200 Summary Enables ubiquitin protein ligase activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and response to ionizing radiation. Part of Cul4A-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.8), colon (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
COP1P1, Official Symbol COP1P1provided by HGNC Official Full Name COP1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31900 See related Ensembl:ENSG00000266613 AllianceGenome:HGNC:31900 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFWD2P; RFWD2P1
COPA, Official Symbol COPAprovided by HGNC Official Full Name COPI coat complex subunit alphaprovided by HGNC Primary source HGNC:HGNC:2230 See related Ensembl:ENSG00000122218 MIM:601924; AllianceGenome:HGNC:2230 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AILJK; HEP-COP; alpha-COP Summary In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 39.8), colon (RPKM 29.3) and 25 other tissues See more Orthologs mouse all
COPB1, Official Symbol COPB1provided by HGNC Official Full Name COPI coat complex subunit beta 1provided by HGNC Primary source HGNC:HGNC:2231 See related Ensembl:ENSG00000129083 MIM:600959; AllianceGenome:HGNC:2231 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COPB; BARMACS Summary This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in thyroid (RPKM 49.1), prostate (RPKM 35.6) and 25 other tissues See more Orthologs mouse all
COPB2, Official Symbol COPB2provided by HGNC Official Full Name COPI coat complex subunit beta 2provided by HGNC Primary source HGNC:HGNC:2232 See related Ensembl:ENSG00000184432 MIM:606990; AllianceGenome:HGNC:2232 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OPDD; MCPH19; beta'-COP Summary The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002] Expression Ubiquitous expression in thyroid (RPKM 30.4), prostate (RPKM 28.2) and 25 other tissues See more Orthologs mouse all
COPDA1, Official Symbol COPDA1provided by HGNC Official Full Name chronic obstructive pulmonary disease associated lncRNA 1provided by HGNC Primary source HGNC:HGNC:53171 See related AllianceGenome:HGNC:53171 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
COPE, Official Symbol COPEprovided by HGNC Official Full Name COPI coat complex subunit epsilonprovided by HGNC Primary source HGNC:HGNC:2234 See related Ensembl:ENSG00000105669 MIM:606942; AllianceGenome:HGNC:2234 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as epsilon-COP Summary The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 53.6), bone marrow (RPKM 48.5) and 25 other tissues See more Orthologs mouse all
COPG1, Official Symbol COPG1provided by HGNC Official Full Name COPI coat complex subunit gamma 1provided by HGNC Primary source HGNC:HGNC:2236 See related Ensembl:ENSG00000181789 MIM:615525; AllianceGenome:HGNC:2236 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COPG Summary Predicted to enable structural molecule activity. Predicted to be involved in several processes, including Golgi vesicle transport; establishment of Golgi localization; and organelle transport along microtubule. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 47.3), prostate (RPKM 41.1) and 25 other tissues See more Orthologs mouse all
COPG2, Official Symbol COPG2provided by HGNC Official Full Name COPI coat complex subunit gamma 2provided by HGNC Primary source HGNC:HGNC:2237 See related Ensembl:ENSG00000158623 MIM:604355; AllianceGenome:HGNC:2237 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 2-COP; gamma-2-COP Summary Predicted to enable structural molecule activity. Involved in intra-Golgi vesicle-mediated transport. Part of COPI vesicle coat. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 19.0), ovary (RPKM 19.0) and 25 other tissues See more Orthologs mouse all
COPRS, Official Symbol COPRSprovided by HGNC Official Full Name coordinator of PRMT5 and differentiation stimulatorprovided by HGNC Primary source HGNC:HGNC:28848 See related Ensembl:ENSG00000172301 AllianceGenome:HGNC:28848 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TTP1; COPR5; C17orf79; HSA272196 Summary Enables histone binding activity. Involved in histone H4-R3 methylation. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 66.1), brain (RPKM 19.5) and 22 other tissues See more Orthologs mouse all
COPRSP1, Official Symbol COPRSP1provided by HGNC Official Full Name COPRS pseudogene 1provided by HGNC Primary source HGNC:HGNC:54677 See related AllianceGenome:HGNC:54677 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COPS2, Official Symbol COPS2provided by HGNC Official Full Name COP9 signalosome subunit 2provided by HGNC Primary source HGNC:HGNC:30747 See related Ensembl:ENSG00000166200 MIM:604508; AllianceGenome:HGNC:30747 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSN2; SGN2; ALIEN; TRIP15 Summary Predicted to enable transcription corepressor activity. Involved in protein deneddylation and protein phosphorylation. Located in cytoplasm. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 22.3), thyroid (RPKM 19.6) and 25 other tissues See more Orthologs mouse all
COPS3, Official Symbol COPS3provided by HGNC Official Full Name COP9 signalosome subunit 3provided by HGNC Primary source HGNC:HGNC:2239 See related Ensembl:ENSG00000141030 MIM:604665; AllianceGenome:HGNC:2239 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSN3; SGN3 Summary The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in testis (RPKM 49.1), bone marrow (RPKM 38.5) and 25 other tissues See more Orthologs mouse all
COPS4, Official Symbol COPS4provided by HGNC Official Full Name COP9 signalosome subunit 4provided by HGNC Primary source HGNC:HGNC:16702 See related Ensembl:ENSG00000138663 MIM:616008; AllianceGenome:HGNC:16702 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSN4; SGN4 Summary This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in testis (RPKM 26.4), brain (RPKM 21.8) and 25 other tissues See more Orthologs mouse all