GNB3

Chr 12MultiAR

G protein subunit beta 3

Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction

Primary Disease Associations & Inheritance

{Hypertension, essential, susceptibility to}MIM #145500
Multi
Night blindness, congenital stationary, type 1HMIM #617024
AR
0
Active trials
14
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.38
LOEUF
LOF
Mechanism· G2P
Clinical SummaryGNB3
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.38LOEUF
pLI 0.000
Z-score 0.32
OE 0.92 (0.631.38)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.05Z-score
OE missense 0.80 (0.710.91)
175 obs / 218.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.92 (0.631.38)
00.351.4
Missense OE0.80 (0.710.91)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 17 / 18.5Missense obs/exp: 175 / 218.6Syn Z: -0.08
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedGNB3-related congenital stationary night blindnessLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6357th %ile
GOF
0.5268th %ile
LOF
0.48top 25%

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GNB3 · 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

No active trials found for this gene.

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Clinical Literature
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