BAIAP2

Chr 17q25.3

BAR/IMD domain containing adaptor protein 2

Aliases:: BAP2, IRSp53, WAML
MANE:: ENST00000428708.7

OMIM: 605475 ↗NCBI: 10458 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

BAIAP2 · Q9UQB8

v62025-08-01

Predicted Aligned Error matrix for BAIAP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.7/ 100

Confident

552 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)6%
Low(50–70)6%
Very low(< 50)39%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

major depressive disorder
0.41
neurotic disorder
0.33
Abnormality of the skeletal system
0.33
Anxiety
0.31
shortness of breath
0.27
morbid obesity
0.25
mathematical ability
0.23
developmental and epileptic encephalopathy
0.23
classic lissencephaly
0.23
obesity disorder
0.22

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BAR/IMD domain-containing adapter protein 2

Adapter protein that links membrane-bound small G proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth, neuronal differentiation and neuronal migration (PubMed:41133935). Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions (PubMed:41133935)