AlphaFold predicted structure
PDE6C · P51160
Mean pLDDT
88.3/ 100
Confident
858 residues
Confidence breakdown
- Very high(≥ 90)63%
- Confident(70–90)29%
- Low(50–70)3%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PDE6C
Chr 10q23.33phosphodiesterase 6C
- Aliases:
- PDEA2, ACHM5, COD4
- MANE:
- ENST00000371447.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
achromatopsia
0.79Cone rod dystrophy
0.72coronary artery disorder
0.54Retinal dystrophy
0.54stroke disorder
0.53cone dystrophy
0.46cardiovascular disorder
0.43intermittent vascular claudication
0.43Progressive cone dystrophy
0.39eye disorder
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP
Diseases associated with PDE6C
Curated MONDO disease pages that list PDE6C among their top associated genes.