GAB1

Chr 4AR

GRB2 associated binding protein 1

Also known as: DFNB26

NCBI Gene: 2549ENSG00000109458UniProt: Q13480OMIM: 604439

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Deafness, autosomal recessive 26MIM #605428
AR

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
46
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.44
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.184
Z-score 4.02
OE 0.24 (0.14–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.56Z-score
OE missense 0.78 (0.71–0.86)
311 obs / 398.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.24 (0.14–0.44)
0≤0.351.4
Missense OE?0.78 (0.71–0.86)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 8 / 32.8Missense obs/exp: 311 / 398.6Syn Z: 0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GAB1 · 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