BAIAP2

Chr 17AD

BAR/IMD domain containing adaptor protein 2

Also known as: BAP2, DEE120, FLAF3, IRSP53, WAML

The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]

OMIMResearchGenerating clinical summary…
DNmechanismADLOEUF 0.431 OMIM phenotype
Clinical SummaryBAIAP2
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.462
Z-score 3.81
OE 0.22 (0.120.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.06Z-score
OE missense 0.69 (0.630.77)
249 obs / 358.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.22 (0.120.43)
00.351.4
Missense OE?0.69 (0.630.77)
00.61.4
Synonymous OE?1.34
01.21.6
LoF obs/exp: 6 / 27.6Missense obs/exp: 249 / 358.8Syn Z: -3.41

This gene — mechanism propensity

DN
0.6745th %ile
GOF
0.6150th %ile
LOF
0.55top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BAIAP2 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →