BAIAP2
BAI1 Associated Protein 2: A Key Regulator of Actin Cytoskeleton and Neuronal Development
Gene Information Card
| Symbol | BAIAP2 |
|---|---|
| Full Name | BAI1 Associated Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 10458 ncbi.nlm.nih.gov/gene/10458 |
| Ensembl ID | ENSG00000131669 |
| UniProt ID | Q9UQB8 |
| OMIM ID | 605475 |
| HGNC ID | 947 |
| Aliases | IRSp53, BAIAP2, BAP2, FLAF3, IRSP53 |
Description
BAIAP2 (BAI1 Associated Protein 2), also known as IRSp53, encodes a protein that functions as a scaffold linking membrane receptors to the actin cytoskeleton. It plays a critical role in cell motility, neurite outgrowth, and dendritic spine morphogenesis. The protein contains an N-terminal IRSp53/MIM homology domain (IMD), a Cdc42/Rac interactive binding (CRIB) domain, and a Src homology 3 (SH3) domain. BAIAP2 is implicated in neuronal development, cancer cell invasion, and insulin signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism Spectrum Disorder | BAIAP2 variants may alter dendritic spine density and synaptic function, contributing to ASD risk. | ClinVar, OMIM |
| Schizophrenia | Genetic association studies link BAIAP2 polymorphisms to schizophrenia susceptibility. | NCBI Gene, OMIM |
| Colorectal Cancer | Overexpression of BAIAP2 promotes cell migration and invasion via actin remodeling. | COSMIC, NCBI Gene |
| Breast Cancer | BAIAP2 upregulation correlates with poor prognosis and enhanced metastatic potential. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 15.2 | Medium |
| Lung | 10.8 | Medium |
| Kidney | 8.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 32.1 | Neuronal cell line; high expression |
| HeLa | 18.7 | Cervical carcinoma; moderate expression |
| MCF7 | 12.4 | Breast cancer; moderate expression |
| HEK293 | 9.5 | Embryonic kidney; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | May affect SH3 domain binding; reported in ASD |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Potential loss of function; associated with schizophrenia |
| c.789_790insA | Frameshift | <0.01% | Predicted to cause protein truncation; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, disrupting actin-binding and scaffolding functions.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance Cdc42 binding and promote aberrant cell motility.
Dominant Negative (DN)
Mutations in the IMD domain may interfere with wild-type protein function, leading to dominant-negative effects on cytoskeletal dynamics.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • cell projection morphogenesis |
| • signal transduction | • Rac protein signal transduction |
| • Cdc42 protein signal transduction | • dendritic spine development |
| • synaptic signaling |
Pathways
• Rho GTPase signaling
• Actin cytoskeleton regulation
• Neuronal development
• Insulin signaling
Protein Summary
BAIAP2 (IRSp53) is a 521-amino acid protein that acts as a scaffold linking small GTPases (Cdc42, Rac) to the actin cytoskeleton. It contains an N-terminal IMD domain that binds phosphatidylinositol 4,5-bisphosphate (PIP2) and promotes membrane protrusion, a CRIB domain for Cdc42/Rac interaction, and an SH3 domain that recruits effectors such as WAVE2 and Mena. The protein is highly expressed in the brain and is essential for dendritic spine formation, synaptic plasticity, and cell migration. Dysregulation of BAIAP2 is associated with neurodevelopmental disorders and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAIAP2 Knockout HEK293 Cell Line | EDJ-KQ2782 | Human | 10458 | Details Get a Quote |
| BAIAP2L1 Knockout HEK293 Cell Line | EDJ-KQ3054 | Human | 55971 | Details Get a Quote |
| BAIAP2L2 Knockout HEK293 Cell Line | EDJ-KQ9449 | Human | 80115 | Details Get a Quote |
| BAIAP2L1 Knockout HCT 116 Cell Line | EDJ-KQ22937 | Human | 55971 | Details Get a Quote |
| BAIAP2L2 Knockout A-549 Cell Line | EDJ-KQ36137 | Human | 80115 | Details Get a Quote |
| BAIAP2L2 Knockout HCT 116 Cell Line | EDJ-KQ36138 | Human | 80115 | Details Get a Quote |
| BAIAP2 Knockout A-549 Cell Line | EDJ-KQ23698 | Human | 10458 | Details Get a Quote |
| BAIAP2 Knockout HCT 116 Cell Line | EDJ-KQ23699 | Human | 10458 | Details Get a Quote |
| BAIAP2 Knockout HeLa Cell Line | EDJ-KQ23700 | Human | 10458 | Details Get a Quote |
| BAIAP2L1 Knockout A-549 Cell Line | EDJ-KQ24307 | Human | 55971 | Details Get a Quote |
| BAIAP2L1 Knockout HeLa Cell Line | EDJ-KQ24309 | Human | 55971 | Details Get a Quote |
| BAIAP2L2 Knockout HeLa Cell Line | EDJ-KQ57291 | Human | 80115 | Details Get a Quote |
