Aliases for COL5A2 Gene
External Ids for COL5A2 Gene
Previous GeneCards Identifiers for COL5A2 Gene
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]
GeneCards Summary for COL5A2 Gene
COL5A2 (Collagen Type V Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL5A2 include Ehlers-Danlos Syndrome, Classic Type, 2 and Ehlers-Danlos Syndrome, Classic Type, 1. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and SMAD binding. An important paralog of this gene is COL2A1.
UniProtKB/Swiss-Prot for COL5A2 Gene
Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity).