CNGB1

Chr 16

cyclic nucleotide gated channel subunit beta 1

Also known as: CNCG2, CNCG3L, CNCG4, CNG4, CNGB1B, GAR1, GARP, GARP2

NCBI Gene: 1258ENSG00000070729UniProt: Q14028

In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 45

Clinical highlights

Gene-disease validity (ClinGen)
CNGB1-related retinopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.15
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — CNGB1
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?
1.15LOEUF
pLI 0.000
Z-score 0.53
OE 0.93 (0.75–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.83Z-score
OE missense 1.09 (1.02–1.15)
779 obs / 716.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.93 (0.75–1.15)
0≤0.351.4
Missense OE?1.09 (1.02–1.15)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 59 / 63.6Missense obs/exp: 779 / 716.6Syn Z: 0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CNGB1 · 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