AlphaFold predicted structure
PDE6H · Q13956
Mean pLDDT
67.0/ 100
Low
83 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)37%
- Low(50–70)59%
- Very low(< 50)4%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PDE6H
Chr 12p12.3phosphodiesterase 6H
- MANE:
- ENST00000266395.3
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
achromatopsia
0.58achromatopsia 6
0.57coronary artery disorder
0.54stroke disorder
0.53Retinal dystrophy
0.47intermittent vascular claudication
0.43cardiovascular disorder
0.43Recurrent thrombophlebitis
0.37Hypertension
0.37chronic kidney disease
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones
Diseases associated with PDE6H
Curated MONDO disease pages that list PDE6H among their top associated genes.