psui3905/ncbi_genes_summary huggingface dataset:
COG4, Official Symbol COG4provided by HGNC Official Full Name component of oligomeric golgi complex 4provided by HGNC Primary source HGNC:HGNC:18620 See related Ensembl:ENSG00000103051 MIM:606976; AllianceGenome:HGNC:18620 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 COD1; CDG2J; SWILS Summary The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010] Expression Ubiquitous expression in testis (RPKM 19.4), skin (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
COG5, Official Symbol COG5provided by HGNC Official Full Name component of oligomeric golgi complex 5provided by HGNC Primary source HGNC:HGNC:14857 See related Ensembl:ENSG00000164597 MIM:606821; AllianceGenome:HGNC:14857 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 CDG2I; GTC90; GOLTC1 Summary The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011] Expression Ubiquitous expression in thyroid (RPKM 12.7), prostate (RPKM 10.2) and 25 other tissues See more Orthologs mouse all
COG6, Official Symbol COG6provided by HGNC Official Full Name component of oligomeric golgi complex 6provided by HGNC Primary source HGNC:HGNC:18621 See related Ensembl:ENSG00000133103 MIM:606977; AllianceGenome:HGNC:18621 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 COD2; SHNS; CDG2L Summary This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] Expression Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
COG7, Official Symbol COG7provided by HGNC Official Full Name component of oligomeric golgi complex 7provided by HGNC Primary source HGNC:HGNC:18622 See related Ensembl:ENSG00000168434 MIM:606978; AllianceGenome:HGNC:18622 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 CDG2E Summary The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010] Expression Ubiquitous expression in thyroid (RPKM 7.2), prostate (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
COG8, Official Symbol COG8provided by HGNC Official Full Name component of oligomeric golgi complex 8provided by HGNC Primary source HGNC:HGNC:18623 See related Ensembl:ENSG00000213380 MIM:606979; AllianceGenome:HGNC:18623 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 DOR1; CDG2H Summary This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 17.4), kidney (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
COIL, Official Symbol COILprovided by HGNC Official Full Name coilinprovided by HGNC Primary source HGNC:HGNC:2184 See related Ensembl:ENSG00000121058 MIM:600272; AllianceGenome:HGNC:2184 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 CLN80; p80-coilin Summary The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 65.0), thyroid (RPKM 8.3) and 22 other tissues See more Orthologs mouse all
COILP1, Official Symbol COILP1provided by HGNC Official Full Name coilin pseudogene 1provided by HGNC Primary source HGNC:HGNC:19927 See related AllianceGenome:HGNC:19927 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 COILP
COL10A1, Official Symbol COL10A1provided by HGNC Official Full Name collagen type X alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2185 See related Ensembl:ENSG00000123500 MIM:120110; AllianceGenome:HGNC:2185 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 the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
COL11A1, Official Symbol COL11A1provided by HGNC Official Full Name collagen type XI alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2186 See related Ensembl:ENSG00000060718 MIM:120280; AllianceGenome:HGNC:2186 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 STL2; COLL6; CO11A1; DFNA37 Summary This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] Expression Biased expression in placenta (RPKM 6.4), gall bladder (RPKM 1.9) and 4 other tissues See more Orthologs mouse all
COL11A2, Official Symbol COL11A2provided by HGNC Official Full Name collagen type XI alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2187 See related Ensembl:ENSG00000204248 MIM:120290; AllianceGenome:HGNC:2187 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 HKE5; PARP; STL3; FBCG2; DFNA13; DFNB53; OSMEDA; OSMEDB Summary This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009] Expression Broad expression in testis (RPKM 1.9), brain (RPKM 1.8) and 20 other tissues See more Orthologs mouse all
COL12A1, Official Symbol COL12A1provided by HGNC Official Full Name collagen type XII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2188 See related Ensembl:ENSG00000111799 MIM:120320; AllianceGenome:HGNC:2188 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 UCMD2; BTHLM2; EDSMYP; COL12A1L; BA209D8.1; DJ234P15.1 Summary This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 41.5), ovary (RPKM 33.4) and 18 other tissues See more Orthologs mouse all
COL13A1, Official Symbol COL13A1provided by HGNC Official Full Name collagen type XIII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2190 See related Ensembl:ENSG00000197467 MIM:120350; AllianceGenome:HGNC:2190 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 CMS19; COLXIIIA1 Summary This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 4.3), lung (RPKM 4.0) and 19 other tissues See more Orthologs mouse all
COL14A1, Official Symbol COL14A1provided by HGNC Official Full Name collagen type XIV alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2191 See related Ensembl:ENSG00000187955 MIM:120324; AllianceGenome:HGNC:2191 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 UND Summary This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013] Expression Broad expression in gall bladder (RPKM 64.7), placenta (RPKM 45.7) and 20 other tissues See more Orthologs mouse all
COL15A1, Official Symbol COL15A1provided by HGNC Official Full Name collagen type XV alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2192 See related Ensembl:ENSG00000204291 MIM:120325; AllianceGenome:HGNC:2192 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 the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013] Expression Broad expression in placenta (RPKM 113.8), fat (RPKM 52.0) and 17 other tissues See more Orthologs mouse all
COL16A1, Official Symbol COL16A1provided by HGNC Official Full Name collagen type XVI alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2193 See related Ensembl:ENSG00000084636 MIM:120326; AllianceGenome:HGNC:2193 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 447AA; FP1572 Summary This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 53.1), prostate (RPKM 25.7) and 20 other tissues See more Orthologs mouse all
COL17A1, Official Symbol COL17A1provided by HGNC Official Full Name collagen type XVII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2194 See related Ensembl:ENSG00000065618 MIM:113811; AllianceGenome:HGNC:2194 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 ERED; JEB4; BP180; BPA-2; BPAG2; LAD-1; BA16H23.2 Summary This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 286.9), colon (RPKM 25.5) and 2 other tissues See more Orthologs mouse all
COL18A1, Official Symbol COL18A1provided by HGNC Official Full Name collagen type XVIII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2195 See related Ensembl:ENSG00000182871 MIM:120328; AllianceGenome:HGNC:2195 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 KS; KNO; GLCC; KNO1 Summary This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in liver (RPKM 68.9), kidney (RPKM 46.2) and 24 other tissues See more Orthologs mouse all
COL18A1-AS1, Official Symbol COL18A1-AS1provided by HGNC Official Full Name COL18A1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:23132 See related Ensembl:ENSG00000183535 AllianceGenome:HGNC:23132 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 PRED80; C21orf123; NCRNA00175 Expression Restricted expression toward kidney (RPKM 1.7) See more
COL18A1-AS2, Official Symbol COL18A1-AS2provided by HGNC Official Full Name COL18A1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40155 See related Ensembl:ENSG00000224574 AllianceGenome:HGNC:40155 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
COL19A1, Official Symbol COL19A1provided by HGNC Official Full Name collagen type XIX alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2196 See related Ensembl:ENSG00000082293 MIM:120165; AllianceGenome:HGNC:2196 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 COL9A1L; D6S228E Summary This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 1.1), appendix (RPKM 0.8) and 14 other tissues See more Orthologs mouse all
COL1A1, Official Symbol COL1A1provided by HGNC Official Full Name collagen type I alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2197 See related Ensembl:ENSG00000108821 MIM:120150; AllianceGenome:HGNC:2197 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 OI1; OI2; OI3; OI4; EDSC; CAFYD; EDSARTH1 Summary This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] Expression Biased expression in gall bladder (RPKM 850.7), urinary bladder (RPKM 497.1) and 11 other tissues See more Orthologs mouse all
COL1A2, Official Symbol COL1A2provided by HGNC Official Full Name collagen type I alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2198 See related Ensembl:ENSG00000164692 MIM:120160; AllianceGenome:HGNC:2198 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 OI4; EDSCV; EDSARTH2 Summary This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] Expression Broad expression in gall bladder (RPKM 891.0), urinary bladder (RPKM 521.6) and 14 other tissues See more Orthologs mouse all
COL1A2-AS1, Official Symbol COL1A2-AS1provided by HGNC Official Full Name COL1A2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53133 See related AllianceGenome:HGNC:53133 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 lncRNA8975-1; TCONS_00013888 Expression Low expression observed in reference dataset See more
COL20A1, Official Symbol COL20A1provided by HGNC Official Full Name collagen type XX alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:14670 See related Ensembl:ENSG00000101203 MIM:619390; AllianceGenome:HGNC:14670 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 be located in endoplasmic reticulum lumen and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 3.6) and testis (RPKM 0.8) See more Orthologs mouse all
COL21A1, Official Symbol COL21A1provided by HGNC Official Full Name collagen type XXI alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:17025 See related Ensembl:ENSG00000124749 MIM:610002; AllianceGenome:HGNC:17025 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 FP633; COLA1L Summary This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Broad expression in placenta (RPKM 9.8), heart (RPKM 8.6) and 16 other tissues See more Orthologs all
COL22A1, Official Symbol COL22A1provided by HGNC Official Full Name collagen type XXII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:22989 See related Ensembl:ENSG00000169436 MIM:610026; AllianceGenome:HGNC:22989 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 member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017] Expression Biased expression in adrenal (RPKM 3.6), prostate (RPKM 1.2) and 7 other tissues See more Orthologs mouse all
COL23A1, Official Symbol COL23A1provided by HGNC Official Full Name collagen type XXIII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:22990 See related Ensembl:ENSG00000050767 MIM:610043; AllianceGenome:HGNC:22990 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 COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008] Expression Biased expression in thyroid (RPKM 9.3), heart (RPKM 2.2) and 10 other tissues See more Orthologs mouse all
COL24A1, Official Symbol COL24A1provided by HGNC Official Full Name collagen type XXIV alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:20821 See related Ensembl:ENSG00000171502 MIM:610025; AllianceGenome:HGNC:20821 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 is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
COL25A1, Official Symbol COL25A1provided by HGNC Official Full Name collagen type XXV alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:18603 See related Ensembl:ENSG00000188517 MIM:610004; AllianceGenome:HGNC:18603 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 AMY; CLAC; CLACP; CFEOM5; CLAC-P Summary This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in testis (RPKM 1.9), fat (RPKM 1.8) and 13 other tissues See more Orthologs mouse all
COL25A1-DT, Official Symbol COL25A1-DTprovided by HGNC Official Full Name COL25A1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:32963 See related Ensembl:ENSG00000246774 AllianceGenome:HGNC:32963 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 ZCCHC23 Summary Predicted to enable nucleic acid binding activity and zinc ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
COL26A1, Official Symbol COL26A1provided by HGNC Official Full Name collagen type XXVI alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:18038 See related Ensembl:ENSG00000160963 MIM:608927; AllianceGenome:HGNC:18038 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 EMI6; EMU2; SH2B; EMID2 Summary This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] Expression Biased expression in brain (RPKM 3.1), kidney (RPKM 1.3) and 9 other tissues See more Orthologs mouse all
COL27A1, Official Symbol COL27A1provided by HGNC Official Full Name collagen type XXVII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:22986 See related Ensembl:ENSG00000196739 MIM:608461; AllianceGenome:HGNC:22986 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 STLS Summary This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] Expression Ubiquitous expression in endometrium (RPKM 17.8), prostate (RPKM 8.1) and 23 other tissues See more Orthologs mouse all
COL28A1, Official Symbol COL28A1provided by HGNC Official Full Name collagen type XXVIII alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:22442 See related Ensembl:ENSG00000215018 MIM:609996; AllianceGenome:HGNC:22442 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 COL28 Summary COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010] Expression Broad expression in salivary gland (RPKM 1.1), adrenal (RPKM 0.6) and 20 other tissues See more Orthologs mouse all
COL2A1, Official Symbol COL2A1provided by HGNC Official Full Name collagen type II alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2200 See related Ensembl:ENSG00000139219 MIM:120140; AllianceGenome:HGNC:2200 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 AOM; ANFH; SEDC; STL1; COL11A3 Summary This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
COL3A1, Official Symbol COL3A1provided by HGNC Official Full Name collagen type III alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2201 See related Ensembl:ENSG00000168542 MIM:120180; AllianceGenome:HGNC:2201 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 EDS4A; EDSVASC; PMGEDSV Summary This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008] Expression Biased expression in gall bladder (RPKM 1491.0), placenta (RPKM 1173.3) and 12 other tissues See more Orthologs mouse all
COL4A1, Official Symbol COL4A1provided by HGNC Official Full Name collagen type IV alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2202 See related Ensembl:ENSG00000187498 MIM:120130; AllianceGenome:HGNC:2202 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 BSVD; BSVD1; RATOR; PADMAL; COL4A1s Summary This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Biased expression in placenta (RPKM 204.1), fat (RPKM 72.2) and 9 other tissues See more Orthologs mouse all
COL4A2, Official Symbol COL4A2provided by HGNC Official Full Name collagen type IV alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2203 See related Ensembl:ENSG00000134871 MIM:120090; AllianceGenome:HGNC:2203 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 ICH; BSVD2; POREN2 Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 373.6), fat (RPKM 158.9) and 13 other tissues See more Orthologs mouse all
COL4A2-AS1, Official Symbol COL4A2-AS1provided by HGNC Official Full Name COL4A2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40156 See related Ensembl:ENSG00000232814 AllianceGenome:HGNC:40156 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in placenta (RPKM 79.8), fat (RPKM 31.0) and 16 other tissues See more
COL4A2-AS2, Official Symbol COL4A2-AS2provided by HGNC Official Full Name COL4A2 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:39849 See related Ensembl:ENSG00000224821 AllianceGenome:HGNC:39849 Gene type ncRNA 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 placenta (RPKM 2.5), fat (RPKM 0.7) and 10 other tissues See more Orthologs all
COL4A3, Official Symbol COL4A3provided by HGNC Official Full Name collagen type IV alpha 3 chainprovided by HGNC Primary source HGNC:HGNC:2204 See related Ensembl:ENSG00000169031 MIM:120070; AllianceGenome:HGNC:2204 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 ATS2; ATS3; BFH2 Summary Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] Expression Biased expression in kidney (RPKM 8.1), lung (RPKM 7.4) and 12 other tissues See more Orthologs mouse all
COL4A4, Official Symbol COL4A4provided by HGNC Official Full Name collagen type IV alpha 4 chainprovided by HGNC Primary source HGNC:HGNC:2206 See related Ensembl:ENSG00000081052 MIM:120131; AllianceGenome:HGNC:2206 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 BFH; ATS2; BFH1; CA44 Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 5.3), thyroid (RPKM 4.9) and 18 other tissues See more Orthologs mouse all
COL4A5, Official Symbol COL4A5provided by HGNC Official Full Name collagen type IV alpha 5 chainprovided by HGNC Primary source HGNC:HGNC:2207 See related Ensembl:ENSG00000188153 MIM:303630; AllianceGenome:HGNC:2207 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 ATS; ASLN; ATS1; CA54 Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] Expression Broad expression in endometrium (RPKM 21.7), skin (RPKM 10.8) and 20 other tissues See more Orthologs mouse all
COL4A6, Official Symbol COL4A6provided by HGNC Official Full Name collagen type IV alpha 6 chainprovided by HGNC Primary source HGNC:HGNC:2208 See related Ensembl:ENSG00000197565 MIM:303631; AllianceGenome:HGNC:2208 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 DFNX6; DELXq22.3; CXDELq22.3 Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] Expression Broad expression in endometrium (RPKM 9.0), gall bladder (RPKM 7.4) and 16 other tissues See more Orthologs mouse all
COL5A1, Official Symbol COL5A1provided by HGNC Official Full Name collagen type V alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2209 See related Ensembl:ENSG00000130635 MIM:120215; AllianceGenome:HGNC:2209 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 EDSC; FMDMF; EDSCL1 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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Broad expression in placenta (RPKM 45.0), endometrium (RPKM 38.1) and 16 other tissues See more Orthologs mouse all
COL5A2, Official Symbol COL5A2provided by HGNC Official Full Name collagen type V alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2210 See related Ensembl:ENSG00000204262 MIM:120190; AllianceGenome:HGNC:2210 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 EDSC; EDSCL2 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 associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 57.0), placenta (RPKM 54.1) and 20 other tissues See more Orthologs mouse all