PDE6G

Chr 17q25.3

phosphodiesterase 6G

Aliases:: RP57
MANE:: ENST00000331056.10

OMIM: 180073 ↗NCBI: 5148 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PDE6G · P18545

v62025-08-01

Predicted Aligned Error matrix for PDE6G — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.3/ 100

Low

87 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)33%
Low(50–70)67%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.71
coronary artery disorder
0.54
stroke disorder
0.53
intermittent vascular claudication
0.43
cardiovascular disorder
0.43
Retinal dystrophy
0.40
eye disorder
0.38
Hypertension
0.37
Posterior column ataxia - retinitis pigmentosa
0.37
Recurrent thrombophlebitis
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Rod cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Inhibitory gamma subunit of the rod-specific cGMP phosphodiesterase (PDE6) complex, which hydrolyzes 3',5'-cyclic GMP in the phototransduction cascade. The PDE6 holoenzyme consists of two catalytic subunits (PDE6A and PDE6B) and two inhibitory gamma subunits. Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification