GNB1

Chr 1AD

G protein subunit beta 1

Also known as: HG2A, MDS, MRD42

NCBI Gene: 2782ENSG00000078369UniProt: P62873OMIM: 139380

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 42MIM #616973
AD
Leukemia, acute lymphoblastic, somaticMIM #613065
Myelodysplastic syndrome, somaticMIM #614286

Clinical highlights

Gene-disease validity (ClinGen)
intellectual disability, autosomal dominant 42 · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.14
LOEUF· LoF intol.
GOF*
Mechanism· G2P
📖
GeneReview available — GNB1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.14LOEUF
pLI 0.999
Z-score 4.21
OE 0.00 (0.00–0.14)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
3.83Z-score
OE missense 0.28 (0.23–0.35)
64 obs / 226.2 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.14)
0≤0.351.4
Missense OE?0.28 (0.23–0.35)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 0 / 20.6Missense obs/exp: 64 / 226.2Syn Z: 0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GNB1 · 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