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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for COL5A2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1290
Official gene symbolCOL5A2
Full namecollagen, type V, alpha 2
Aliases,MGC105115,
Gene summaryThis 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]
LocationChromosome: 2   Locus: 2q14-q32
Gene position190044605 - 189896641  Map Viewer
Gene orientationminus
Gene size147965 bp
Gene sequence
OMIM ID120190