GAB3
Chr XGRB2 associated binding protein 3
The protein functions as a scaffolding/docking protein that facilitates macrophage differentiation and participates in growth factor and cytokine signaling pathways by binding SHP2 tyrosine phosphatase and GRB2 adapter protein. Loss-of-function mutations cause autosomal dominant neurodevelopmental disorders due to haploinsufficiency, as indicated by the high pLI score and low LOEUF score showing strong intolerance to protein-truncating variants.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GAB3 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools