COL8A2

COL8A2 (Collagen Type VIII Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL8A2 include Corneal Dystrophy, Posterior Polymorphous, 2 and Corneal Dystrophy, Fuchs Endothelial, 1. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and protein binding, bridging. An important paralog of this gene is COL8A1.

collagen, type VIII, alpha 2

Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity).

Angiogenesis Source: UniProtKB-KW
Camera-type eye morphogenesis Source: Ensembl
Cell-cell adhesion Source: UniProtKB
Collagen fibril organization Source: Reactome
Epithelial cell proliferation Source: Ensembl
Extracellular matrix organization Source: GO_Central

Basement membrane

Corneal dystrophy, Fuchs endothelial, 1 (FECD1):
A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
Corneal dystrophy, posterior polymorphous, 2 (PPCD2):
A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.

Proteolytically cleaved by neutrophil elastase, in vitro.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.