| UniProt Protein Function: | COL5A2: 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. Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 1 (EDS1); also known as Ehlers-Danlos syndrome gravis or severe classic type Ehlers-Danlos syndrome. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 2 (EDS2); also known as Ehlers-Danlos syndrome mitis or mild classic type Ehlers Danlos syndrome. Belongs to the fibrillar collagen family. |
| UniProt Protein Details: | Protein type:Secreted; Secreted, signal peptide Chromosomal Location of Human Ortholog: 2q14-q32 Cellular Component: collagen type V; endoplasmic reticulum lumen; extracellular region Biological Process: collagen catabolic process; collagen fibril organization; extracellular matrix organization and biogenesis; eye morphogenesis; skin development Disease: Ehlers-danlos Syndrome, Type I |
| NCBI 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] |
| UniProt Code: | P05997 |
| NCBI GenInfo Identifier: | 143811378 |
| NCBI Gene ID: | 1290 |
| NCBI Accession: | P05997.3 |
| UniProt Secondary Accession: | P05997,P78440, Q13908, Q53WR4, Q59GR4, Q6LDJ5, Q7KZ55 Q86XF6, Q96QB0, Q96QB3, |
| UniProt Related Accession: | P05997 |
| Molecular Weight: | 144,910 Da |
| NCBI Full Name: | Collagen alpha-2(V) chain |
| NCBI Synonym Full Names: | collagen type V alpha 2 chain |
| NCBI Official Symbol: | COL5A2 |
| NCBI Official Synonym Symbols: | EDSC |
| NCBI Protein Information: | collagen alpha-2(V) chain |
| UniProt Protein Name: | Collagen alpha-2(V) chain |
| Protein Family: | Collagen |
| UniProt Gene Name: | COL5A2 |
| UniProt Entry Name: | CO5A2_HUMAN |
