COL8A2 Chromosome 1
Collagen type VIII alpha 2 chain
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What This Gene Does
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]
Gene Info
Gene Group
"C1q domain containing|Network forming collagens"
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000171812
Associated Conditions (5)
Inborn genetic diseases
Corneal dystrophy
Fuchs endothelial
1
Posterior polymorphous corneal dystrophy 2
Key Variants
RS142307403
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS727504229
Pathogenic
Corneal dystrophy, Fuchs endothelial, 1
Health Risk
RS80358191
Pathogenic
Corneal dystrophy, Fuchs endothelial, 1
Health Risk
RS80358192
Pathogenic
Corneal dystrophy, Fuchs endothelial, 1
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142307403 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS727504229 | Health Risk | Pathogenic | Corneal dystrophy, Fuchs endothelial, 1 |
| RS80358191 | Health Risk | Pathogenic | Corneal dystrophy, Fuchs endothelial, 1 |
| RS80358192 | Health Risk | Pathogenic | Corneal dystrophy, Fuchs endothelial, 1 |