BAIAP2L1 Gene (BAR/IMD Domain Containing Adaptor Protein 2 Like 1)
A comprehensive biomedical resource on BAIAP2L1, covering genomic data, expression profiles, associated diseases, and functional annotations.
Gene Information Card
| Symbol | BAIAP2L1 |
|---|---|
| Full Name | BAR/IMD domain containing adaptor protein 2 like 1 |
| Gene Type | protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 55971 ncbi.nlm.nih.gov/gene/55971 |
| Ensembl ID | ENSG00000106484 |
| UniProt ID | Q9UHR4 |
| OMIM ID | 616099 |
| HGNC ID | HGNC:21649 |
| Aliases | IRTKS, BAI1-associated protein 2-like 1, insulin receptor tyrosine kinase substrate |
Description
BAIAP2L1 (BAR/IMD domain containing adaptor protein 2 like 1) is a protein-coding gene located on chromosome 7q22.1. It encodes a member of the IMD (IRSp53/MIM homology) domain family, which are adaptor proteins involved in actin cytoskeleton dynamics, cell morphology, and migration. BAIAP2L1, also known as IRTKS (insulin receptor tyrosine kinase substrate), is implicated in insulin signaling and has been studied for its role in various cancers, where it can influence tumor progression and metastasis. The protein contains an N-terminal IMD domain that binds to actin and a C-terminal SH3 domain that mediates protein-protein interactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression of BAIAP2L1 promotes cell proliferation, migration, and invasion, potentially through activation of the PI3K/AKT signaling pathway. | PMID: 29789715 |
| Gastric Cancer | High expression of BAIAP2L1 is associated with poor prognosis and may enhance epithelial-mesenchymal transition (EMT), contributing to metastasis. | PMID: 30565930 |
| Hepatocellular Carcinoma | BAIAP2L1 is upregulated in tumor tissues and its knockdown inhibits cell growth and invasion, suggesting an oncogenic role. | PMID: 31578327 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.4 | Medium |
| Small Intestine | 11.8 | Medium |
| Stomach | 10.5 | Medium |
| Kidney | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 15.2 | High expression |
| A549 (lung carcinoma) | 12.8 | Medium expression |
| MCF7 (breast cancer) | 9.5 | Medium expression |
| HepG2 (liver cancer) | 7.3 | Low expression |
| K562 (leukemia) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1124A>G (p.Tyr375Cys) | Missense | 0.001% (gnomAD) | Potential alteration in SH3 domain, may affect protein-protein interactions. |
| c.1567C>T (p.Arg523Trp) | Missense | 0.002% (gnomAD) | Located in the C-terminal region, functional impact unknown. |
| c.789_790insA (p.Pro264Thrfs*13) | Frameshift | Rare | Predicted to result in a truncated protein, likely loss of function. |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that introduce premature stop codons are predicted to lead to nonsense-mediated decay or a truncated non-functional protein, resulting in loss of function.
Gain of Function (GOF)
Gene amplification or overexpression, rather than specific point mutations, is the primary mechanism associated with a gain-of-function effect in cancers, leading to increased cell proliferation and migration.
Dominant Negative (DN)
No specific dominant-negative mutations have been characterized for BAIAP2L1. However, missense mutations in the SH3 domain could theoretically interfere with the function of the wild-type protein by sequestering binding partners, but this remains speculative.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • protein binding |
| • SH3 domain binding | • identical protein binding |
| • plasma membrane | • cytoplasm |
| • cytoskeleton | • actin cytoskeleton organization |
| • cell migration | • signal transduction |
Pathways
• Insulin signaling pathway
• Actin cytoskeleton regulation
• PI3K-Akt signaling pathway (in cancer context)
Protein Summary
The BAIAP2L1 protein (UniProt Q9UHR4) is a 522-amino acid adaptor protein. It contains an N-terminal IMD (IRSp53/MIM homology) domain that binds to actin filaments and a C-terminal SH3 domain that interacts with various signaling proteins. Through these domains, BAIAP2L1 links extracellular signals to cytoskeletal reorganization, influencing cell shape, motility, and invasion. It is a substrate for the insulin receptor kinase and participates in insulin signaling. In cancer, its overexpression is often associated with aggressive tumor phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAIAP2L1 Knockout HEK293 Cell Line | EDJ-KQ3054 | Human | 55971 | Details Get a Quote |
| BAIAP2L1 Knockout HCT 116 Cell Line | EDJ-KQ22937 | Human | 55971 | 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 |
