Gene: COL8A2

Alternate names for this Gene: FECD|FECD1|PPCD|PPCD2

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.3

Description of this Gene: collagen type VIII alpha 2 chain

Type of Gene: protein-coding

rs80358191 in COL8A2 gene and CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 PMID 11689488 2001 Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

rs96067 in COL8A2 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs96067 in COL8A2 gene and Corneal Topography PMID 23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

rs369487110 in COL8A2 gene and Corneal dystrophy, Fuchs' endothelial, 1 PMID 11689488 2001 Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

rs12123086 in COL8A2 gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.