GNB5

Chr 15

G protein subunit beta 5

Also known as: GB5, HG2E, IDDCA, LADCI, LDMLS1, LDMLS2, gbeta5

NCBI Gene: 10681ENSG00000069966UniProt: O14775

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia
UniProtLodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia

Clinical highlights

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
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — GNB5
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?
0.97LOEUF
pLI 0.000
Z-score 1.66
OE 0.63 (0.42–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.50Z-score
OE missense 0.72 (0.64–0.82)
167 obs / 231.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.42–0.97)
0≤0.351.4
Missense OE?0.72 (0.64–0.82)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 15 / 23.7Missense obs/exp: 167 / 231.4Syn Z: 0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GNB5 · 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