PDE6B

Chr 4ADAR

phosphodiesterase 6B

Also known as: CSNB3, CSNBAD2, GMP-PDEbeta, PDEB, RP40, rd1

NCBI Gene: 5158ENSG00000133256UniProt: P35913OMIM: 180072

Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Night blindness, congenital stationary, autosomal dominant 2MIM #163500
AD
Retinitis pigmentosa-40MIM #613801
AR

Clinical highlights

Gene-disease validity (ClinGen)
inherited retinal dystrophy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.19
LOEUF
Multiple*
Mechanism· G2P
📖
GeneReview available — PDE6B
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.19LOEUF
pLI 0.000
Z-score 0.51
OE 0.92 (0.72–1.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.80Z-score
OE missense 1.10 (1.02–1.18)
572 obs / 520.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.92 (0.72–1.19)
0≤0.351.4
Missense OE?1.10 (1.02–1.18)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 43 / 46.7Missense obs/exp: 572 / 520.8Syn Z: -1.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDE6B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients