GAB4

Chr 22

GRB2 associated binding protein family member 4

NCBI Gene: 128954ENSG00000215568UniProt: Q2WGN9

Predicted to enable transmembrane receptor protein tyrosine kinase adaptor activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
LOEUF
DN
Mechanism· predicted
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?
1.22LOEUF
pLI 0.000
Z-score 0.78
OE 0.81 (0.56–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.96Z-score
OE missense 1.15 (1.06–1.25)
381 obs / 331.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.56–1.22)
0≤0.351.4
Missense OE?1.15 (1.06–1.25)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 17 / 20.9Missense obs/exp: 381 / 331.6Syn Z: -0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GAB4 · 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