DAB2IP
Chr 9DAB2 interacting protein
Also known as: AF9Q34, AIP-1, AIP1, DIP1/2
DAB2IP encodes a Ras GTPase-activating protein that functions as a scaffold protein regulating multiple signaling pathways including cell cycle control, apoptosis, inflammation, and neuronal migration, and acts as a tumor suppressor. Loss-of-function mutations cause autosomal recessive intellectual disability and developmental delay, with the protein being critical for cortical neuron migration and cerebellar synapse formation during brain development. The gene is highly intolerant to loss-of-function variants, supporting a haploinsufficiency mechanism of disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DAB2IP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools