Aliases for COL8A2 Gene
External Ids for COL8A2 Gene
Previous HGNC Symbols for COL8A2 Gene
Previous GeneCards Identifiers for COL8A2 Gene
This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
GeneCards Summary for COL8A2 Gene
COL8A2 (Collagen Type VIII Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL8A2 include Corneal Dystrophy, Fuchs Endothelial, 1 and Corneal Dystrophy, Posterior Polymorphous, 2. Among its related pathways are ERK Signaling and Collagen chain trimerization. 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.
UniProtKB/Swiss-Prot Summary for COL8A2 Gene
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).