collagen, type VIII, alpha 2

Symbol

COL8A2 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
col8a2 Danio rerio
Col8a2 Mus musculus
Col8a2 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA2701 Hypomethylation of COL8A2 is positively correlated with age Molecular blood Human COL8A2 —

GO Terms

GO IDGO TermGO Category
GO:0001525 angiogenesis biological_process
GO:0016337 cell-cell adhesion biological_process
GO:0030198 extracellular matrix organization biological_process
GO:0048593 camera-type eye morphogenesis biological_process
GO:0050673 epithelial cell proliferation biological_process
GO:0005576 extracellular region cellular_component
GO:0005578 proteinaceous extracellular matrix cellular_component
GO:0005581 collagen cellular_component
GO:0005604 basement membrane cellular_component
GO:0031012 extracellular matrix cellular_component
GO:0005201 extracellular matrix structural constituent molecular_function
GO:0030674 protein binding, bridging molecular_function