COL5A2

COL5A2 (Collagen Type V Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL5A2 include Ehlers-Danlos Syndrome Type 2 and Ehlers-Danlos Syndrome, Classic Type, 2. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and SMAD binding. An important paralog of this gene is COL2A1.

Collagen Type V Alpha 2 Chain

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).

Cellular response to amino acid stimulus Source: Ensembl
Collagen fibril organization Source: UniProtKB
Extracellular matrix organization Source: GO_Central
Eye morphogenesis Source: UniProtKB
Negative regulation of endodermal cell differentiation Source: UniProtKB
Ossification Source: Ensembl
Skeletal system development Source: Ensembl
Skin development Source: UniProtKB

Extracellular matrix

Ehlers-Danlos syndrome, classic type, 2 (EDSCL2):
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant.

Prolines at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Probably 3-hydroxylated on Pro-919 and Pro-1156 by LEPREL1.