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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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BAIAP2
BAR/IMD domain containing adaptor protein 2
Chromosome 17 Β· 17q25.3
NCBI Gene: 10458Ensembl: ENSG00000175866.16HGNC: HGNC:947UniProt: I3L4C2
185PubMed Papers
20Diseases
0Drugs
6Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of actin cytoskeleton organizationfilopodium assemblyplasma membraneadherens junctionmajor depressive disorderAbnormality of the skeletal systemneurotic disorderAnxiety
✦AI Summary

BAIAP2 (BAR/IMD domain containing adaptor protein 2) is a multi-domain scaffolding protein that functions as a critical regulator of actin cytoskeleton dynamics and neuronal development. Mechanistically, BAIAP2 links membrane-bound small G-proteins (CDC42 and RAC1) to cytoplasmic effector proteins, mediating actin reorganization and filopodia formation through interactions with WASF family members and the Arp2/3 complex 1. The protein plays essential roles in dendritic spine morphogenesis, excitatory synapse formation, and neuronal migration during cortical development 23. Disease relevance of BAIAP2 is substantial and diverse. De novo missense variants in BAIAP2 cause developmental and epileptic encephalopathies (DEEs) through gain-of-function mechanisms, increasing neuronal excitability and synaptic transmission 2. Loss-of-function variants impair neuronal migration and cause lissencephaly, a neurodevelopmental disorder marked by absent brain surface convolutions 3. BAIAP2 polymorphisms associate with altered default-mode network connectivity and anger dysregulation in ADHD adults 4, while methylation changes in BAIAP2 correlate with asthma exacerbations 5. Clinically, BAIAP2 emerges as a therapeutic target in urothelial bladder cancer, where overexpression promotes tumor aggressiveness, migration, invasion, and epithelial-mesenchymal transition through cytoskeletal remodeling 6. Additionally, BAIAP2 responds to nanoparticle mechanical properties in tumor-associated macrophages, representing a potential immunotherapy strategy 7.

Sources cited
1
BAIAP2 is a scaffolding protein regulating dendritic spine morphogenesis, NMDA receptor function, and actin-rich membrane dynamics
PMID: 26275848
2
De novo BAIAP2 missense variants cause developmental and epileptic encephalopathies through gain-of-function mechanisms increasing neuronal excitability
PMID: 41133935
3
Loss-of-function BAIAP2 variant causes lissencephaly through defective neuronal migration via impaired membrane localization
PMID: 38149472
4
BAIAP2 polymorphisms associate with default-mode network asymmetry and anger expression in ADHD adults
PMID: 28938222
5
BAIAP2 DNA methylation changes associate with asthma exacerbations in Europeans
PMID: 39907155
6
BAIAP2 is overexpressed in muscle-invasive urothelial bladder cancer, promoting migration, invasion, and EMT through cytoskeletal reorganization
PMID: 40596964
7
BAIAP2 responds to nanoparticle elasticity and functions in tumor-associated macrophage reprogramming via mechanical signaling
PMID: 39079080
Disease Associationsβ“˜20
major depressive disorderOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.33Weak
neurotic disorderOpen Targets
0.32Weak
AnxietyOpen Targets
0.31Weak
shortness of breathOpen Targets
0.27Weak
morbid obesityOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.22Weak
IGA glomerulonephritisOpen Targets
0.21Weak
type 2 diabetes mellitusOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.18Weak
attention deficit hyperactivity disorderOpen Targets
0.18Weak
obesityOpen Targets
0.18Weak
respiratory system diseaseOpen Targets
0.18Weak
glaucomaOpen Targets
0.17Weak
cardiomyopathyOpen Targets
0.17Weak
atrial fibrillationOpen Targets
0.16Weak
celiac diseaseOpen Targets
0.16Weak
overnutritionOpen Targets
0.12Weak
polypOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
Pathogenic Variants6
NM_001144888.2(BAIAP2):c.1088G>A (p.Arg363His)Pathogenic
Developmental and epileptic encephalopathy 120
β˜†β˜†β˜†β˜†2026β†’ Residue 363
NM_001144888.2(BAIAP2):c.1019C>A (p.Thr340Lys)Pathogenic
Developmental and epileptic encephalopathy 120
β˜†β˜†β˜†β˜†2026β†’ Residue 340
NM_001144888.2(BAIAP2):c.1018A>G (p.Thr340Ala)Pathogenic
Developmental and epileptic encephalopathy 120
β˜†β˜†β˜†β˜†2026β†’ Residue 340
NM_001144888.2(BAIAP2):c.566A>T (p.Glu189Val)Pathogenic
Developmental and epileptic encephalopathy 120
β˜†β˜†β˜†β˜†2026β†’ Residue 189
NM_001144888.2(BAIAP2):c.1019C>T (p.Thr340Ile)Pathogenic
Developmental and epileptic encephalopathy 120
β˜†β˜†β˜†β˜†2026β†’ Residue 340
NM_001144888.2(BAIAP2):c.1024C>G (p.Pro342Ala)Pathogenic
Developmental and epileptic encephalopathy 120
β˜†β˜†β˜†β˜†2026β†’ Residue 342
View on ClinVar β†—
Related Genes
FNBP1LProtein interaction100%SHANK3Protein interaction98%ADGRB1Protein interaction98%ACTBProtein interaction98%ACTG1Protein interaction98%SHANK2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Lung
44%
Brain
38%
Ovary
15%
Heart
13%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
BAIAP2FNBP1LSHANK3ADGRB1ACTBACTG1SHANK2
PROTEIN STRUCTURE
Preparing viewer…
PDB6ZEG Β· 1.09 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.30 [0.20–0.45]
RankingsWhere BAIAP2 stands among ~20K protein-coding genes
  • #2,322of 20,598
    Most Researched185 Β· top quartile
  • #3,313of 5,498
    Most Pathogenic Variants6
  • #2,469of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedBAIAP2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Inter-hemispherical asymmetry in default-mode functional connectivity and BAIAP2 gene are associated with anger expression in ADHD adults.
PMID: 28938222
Psychiatry Res Neuroimaging Β· 2017
1.00
2
BAIAP2 as a driver of tumor progression in urothelial bladder cancer.
PMID: 40596964
BMC Cancer Β· 2025
0.90
3
Epigenome-Wide Association Study of Asthma Exacerbations in Europeans.
PMID: 39907155
Allergy Β· 2025
0.80
4
IRSp53/BAIAP2 in dendritic spine development, NMDA receptor regulation, and psychiatric disorders.
PMID: 26275848
Neuropharmacology Β· 2016
0.70
5
Disruption of Robo2-Baiap2 integrated signaling drives cystic disease.
PMID: 31534052
JCI Insight Β· 2019
0.68