| UniProt Protein Function: | COL8A2: 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. Defects in COL8A2 are the cause of corneal dystrophy Fuchs endothelial type 1 (FECD1). It is an ocular disorder 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. Defects in COL8A2 are the cause of posterior polymorphous corneal dystrophy type 2 (PPCD2). PPCD is a rare bilateral familial disorder of the corneal epithelium, and is inherited in a autosomal dominant pattern. The clinical features usually present earlier than FECD, being from birth onwards. The disorder is 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.Protein type: Secreted, signal peptide; Secreted; Extracellular matrixChromosomal Location of Human Ortholog: 1p34.2Cellular Component: endoplasmic reticulum lumen; extracellular matrix; extracellular regionBiological Process: collagen catabolic process; extracellular matrix organization and biogenesisDisease: Corneal Dystrophy, Fuchs Endothelial, 1; Corneal Dystrophy, Posterior Polymorphous, 2 |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | P25067 |
| NCBI GenInfo Identifier: | 45644957 |
| NCBI Gene ID: | 1296 |
| NCBI Accession: | P25067.2 |
| UniProt Secondary Accession: | P25067,Q5JV31, Q8TEJ5 |
| UniProt Related Accession: | P25067 |
| Molecular Weight: | 67,244 Da |
| NCBI Full Name: | Collagen alpha-2(VIII) chain |
| NCBI Synonym Full Names: | collagen type VIII alpha 2 chain |
| NCBI Official Symbol: | COL8A2Â Â |
| NCBI Official Synonym Symbols: | FECD; PPCD; FECD1; PPCD2Â Â |
| NCBI Protein Information: | collagen alpha-2(VIII) chain |
| UniProt Protein Name: | Collagen alpha-2(VIII) chain |
| UniProt Synonym Protein Names: | Endothelial collagen |
| Protein Family: | |
| UniProt Gene Name: | COL8A2Â Â |
| UniProt Entry Name: | CO8A2_HUMAN |
