Collagen Type VIII Alpha 2 (COL8a2)

COL8-A2; FECD; PPCD; PPCD2; Collagen Alpha-2(VIII)chain; Endothelial collagen

SPN	T660
HGNC	2216
MGI	88464
PubMed	15914606
RGD	1305182
UniProt	P25067
Wiki	COL8A2

The sequence of the alpha-1 chain is strikingly similar to that of the alpha-1 chain of type X collagen, a product of hypertrophic chondrocytes. Because of the relatively small size of the triple-helical domain, types VIII and X collagen have been called 'short chain collagens. Type VIII collagen molecules in the Descemet membrane may be heterotrimers. The 2 polypeptides are coexpressed in the Descemet membrane; the lengths of the triple-helical regions of the 2 chains are almost identical and therefore compatible with heterotrimer formation; and the proportion of alpha-1 and alpha-2 polypeptides suggests that the chain composition is two alpha-1 chains to one alpha-2 chain. COL8a2 contains a triple-helical and a carboxyl non-triple-helical domain encoded by a single, large exon, both in mice and humans.

Reference

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1."
J. Biol. Chem. 266:7721-7727(1991) [PubMed] [Europe PMC] [Abstract]

"Cleavage of type VIII collagen by human neutrophil elastase."
Biochim. Biophys. Acta 1139:295-299(1992) [PubMed] [Europe PMC] [Abstract]

"The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo."
Matrix Biol. 19:19-28(2000) [PubMed] [Europe PMC] [Abstract]

"Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers."
J. Biol. Chem. 279:21469-21477(2004) [PubMed] [Europe PMC] [Abstract]

"Collagen type VIII expression in human diabetic nephropathy."
Eur. J. Clin. Invest. 37:767-773(2007) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy."
Hum. Mol. Genet. 10:2415-2423(2001) [PubMed] [Europe PMC] [Abstract]

"Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy."
Jpn. J. Ophthalmol. 48:195-198(2004) [PubMed] [Europe PMC] [Abstract]