BAIAP2L2 Gene (BAI1 Associated Protein 2 Like 2)
A comprehensive resource for BAIAP2L2: genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | BAIAP2L2 |
|---|---|
| Full Name | BAI1 associated protein 2 like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 80115 ncbi.nlm.nih.gov/gene/80115 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q6UXY1 |
| OMIM ID | 616872 |
| HGNC ID | 29502 |
| Aliases | BAIAP2L, FLJ32709 |
Description
BAIAP2L2 (BAI1 associated protein 2 like 2) is a protein-coding gene located on chromosome 22q13.1. It encodes a protein that belongs to the IRSp53 family, involved in actin cytoskeleton dynamics and cell morphology regulation. The gene is expressed in multiple tissues and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect cell migration and invasion | PMID: 25605248 |
| Schizophrenia | Potential role in synaptic function and dendritic spine morphology | PMID: 21862876 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 9.8 | Low expression |
| SH-SY5Y | 18.7 | High expression |
| A549 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin cytoskeleton organization (GO:0030036) |
| • actin cytoskeleton (GO:0015629) | • synapse (GO:0045202) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
The BAIAP2L2 protein is a 509-amino acid protein containing an N-terminal IRSp53/MIM homology domain (IMD) and a C-terminal SH3 domain. It interacts with actin and regulates cytoskeletal dynamics, influencing cell shape, migration, and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAIAP2L2 Knockout HEK293 Cell Line | EDJ-KQ9449 | Human | 80115 | 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 |
| BAIAP2L2 Knockout HeLa Cell Line | EDJ-KQ57291 | Human | 80115 | Details Get a Quote |
