COL8A2
Chr 1ADcollagen type VIII alpha 2 chain
Also known as: FECD, FECD1, PPCD, PPCD2
This gene encodes the alpha 2 chain of type VIII collagen, which is a major component of Descemet's membrane (the basement membrane of corneal endothelial cells) and forms homo- or heterotrimers with alpha 1 type VIII collagen chains. Mutations cause Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2, both inherited in an autosomal dominant pattern. These corneal dystrophies primarily affect the eye and can lead to vision impairment due to corneal endothelial dysfunction.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COL8A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools