CNGB3

Chr 8

cyclic nucleotide gated channel subunit beta 3

Also known as: ACHM1

NCBI Gene: 54714ENSG00000170289UniProt: Q9NQW8

This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtStargardt disease 1
UniProtAchromatopsia 3

Clinical highlights

Gene-disease validity (ClinGen)
CNGB3-related retinopathy · 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.
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.02
LOEUF
Multiple
Mechanism· G2P
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GeneReview available — CNGB3
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.000
Z-score 1.46
OE 0.76 (0.58–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.18Z-score
OE missense 1.16 (1.08–1.25)
485 obs / 417.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.58–1.02)
0≤0.351.4
Missense OE?1.16 (1.08–1.25)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 34 / 44.5Missense obs/exp: 485 / 417.3Syn Z: -0.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CNGB3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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