BAIAP2

Chr 17

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 120

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
10
Pubs (1 yr)
P/LP submissions
P/LP missense
0.43
LOEUF
DN
Mechanism· predicted
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GeneReview available — BAIAP2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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

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.

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