AlphaFold predicted structure
COL8A2 · P25067
Mean pLDDT
56.3/ 100
Low
703 residues
Confidence breakdown
- Very high(≥ 90)18%
- Confident(70–90)1%
- Low(50–70)30%
- Very low(< 50)51%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
COL8A2
Chr 1p34.3collagen type VIII alpha 2 chain
- Aliases:
- PPCD, FECD1, PPCD2
- MANE:
- ENST00000397799.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Corneal abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCorneal dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Fuchs endothelial corneal dystrophy
0.77Abnormality of the skeletal system
0.69posterior polymorphous corneal dystrophy
0.58glaucoma
0.41open-angle glaucoma
0.39neurodegenerative disease
0.28Alzheimer disease
0.25hereditary disease
0.19Peters anomaly
0.11Familial ocular anterior segment mesenchymal dysgenesis
0.11
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Collagen alpha-2(VIII) chain
Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a 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 (By similarity)
Diseases associated with COL8A2
Curated MONDO disease pages that list COL8A2 among their top associated genes.