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