PDE6B

Chr 4p16.3

phosphodiesterase 6B

Aliases:: CSNB3, rd1, RP40, CSNBAD2
MANE:: ENST00000496514.6

OMIM: 180072 ↗NCBI: 5158 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PDE6B · P35913

v62025-08-01

Predicted Aligned Error matrix for PDE6B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.3/ 100

Confident

854 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)20%
Low(50–70)3%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.82
congenital stationary night blindness
0.70
Retinal dystrophy
0.58
coronary artery disorder
0.54
stroke disorder
0.53
autosomal recessive retinitis pigmentosa
0.49
cardiovascular disorder
0.43
intermittent vascular claudication
0.43
Posterior column ataxia - retinitis pigmentosa
0.38
inherited retinal dystrophy
0.38

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

Protein function (UniProt)

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

Catalytic beta 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 (PDE6G) (PubMed:20940301). Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification (PubMed:8394174). Decreased cytosolic cGMP levels result in closure of cGMP-gated cation channels at the plasma membrane, leading to rod photoreceptor hyperpolarization (Probable). Involved in retinal circadian rhythm photoentrainment via modulation of UVA and orange light-induced phase-shift of the retina clock (By similarity)

Curated MONDO disease pages that list PDE6B among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with PDE6B