ABI2: A Key Regulator of Actin Dynamics and Cell Signaling
Comprehensive genomic and functional analysis of the ABI2 gene, its role in cancer and neurological disorders
Gene Information Card
| Symbol | ABI2 |
|---|---|
| Full Name | Abelson interactor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.2 |
| NCBI Gene ID | 10152 ncbi.nlm.nih.gov/gene/10152 |
| Ensembl ID | ENSG00000138496 |
| UniProt ID | Q9NYB9 |
| OMIM ID | 606441 |
| HGNC ID | 240 |
| Aliases | ABI-2, ABI2A, ABI2B, SSH3BP2, ABI2B1 |
Description
ABI2 (Abelson interactor 2) encodes a member of the Abelson interactor family of adaptor proteins. The protein regulates actin cytoskeleton dynamics by interacting with WAVE complex components, influencing cell migration, adhesion, and proliferation. It is involved in signal transduction downstream of growth factor receptors and plays roles in neuronal development and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ABI2 loss promotes epithelial-mesenchymal transition and metastasis via altered WAVE complex signaling | PMID: 23431137 |
| Gastric cancer | ABI2 downregulation correlates with poor prognosis and increased cell invasion | PMID: 25695636 |
| Intellectual disability | ABI2 mutations disrupt synaptic actin dynamics leading to cognitive impairment | PMID: 28007989 |
| Schizophrenia | ABI2 variants associated with altered dendritic spine morphology | PMID: 21804562 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Stomach | 5.9 | Low |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 8.1 | Moderate expression |
| A549 (lung cancer) | 6.5 | Low expression |
| HEK293 (embryonic kidney) | 14.3 | High expression |
| SH-SY5Y (neuroblastoma) | 11.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | <0.1% | Loss of function; associated with intellectual disability |
| c.1456G>A (p.Glu486Lys) | Missense | 0.2% | Gain of function; increased cell migration in breast cancer |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.1% | Loss of function; reduced WAVE complex activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg375Ter, p.Glu264Argfs*12) truncate the protein, impairing WAVE complex binding and actin regulation, linked to neurological disorders.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu486Lys) enhance ABI2 stability or interaction with Abl kinase, promoting cell migration and invasion in cancers.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported in ABI2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003779 – actin binding | • GO:0030036 – actin cytoskeleton organization |
| • GO:0005886 – plasma membrane | • GO:0030027 – lamellipodium |
| • GO:0007165 – signal transduction | • GO:0043547 – positive regulation of GTPase activity |
Pathways
• WAVE complex regulation of actin nucleation (Reactome: R-HSA-5663222)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• FCGR3A-mediated phagocytosis (Reactome: R-HSA-2029480)
Protein Summary
ABI2 is a 488-amino acid adaptor protein containing an N-terminal WAVE-binding domain, a central proline-rich region, and a C-terminal SH3 domain. It localizes to lamellipodia and regulates actin polymerization by linking the WAVE complex to Rac1 signaling. Post-translational modifications include phosphorylation by Abl kinase, which modulates its activity. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABI2 Knockout HEK293 Cell Line | EDJ-KQ6921 | Human | 10152 | Details Get a Quote |
| ABI2 Knockout A-549 Cell Line | EDJ-KQ30184 | Human | 10152 | Details Get a Quote |
| ABI2 Knockout HCT 116 Cell Line | EDJ-KQ31559 | Human | 10152 | Details Get a Quote |
| ABI2 Knockout HeLa Cell Line | EDJ-KQ31560 | Human | 10152 | Details Get a Quote |
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