BIRC2: Baculoviral IAP Repeat Containing 2
A key regulator of apoptosis, NF-κB signaling, and immune response, implicated in cancer and inflammatory diseases.
Gene Information Card
| Symbol | BIRC2 |
|---|---|
| Full Name | Baculoviral IAP Repeat Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.2 |
| NCBI Gene ID | 329 ncbi.nlm.nih.gov/gene/329 |
| Ensembl ID | ENSG00000110330 |
| UniProt ID | Q13490 |
| OMIM ID | 601712 |
| HGNC ID | 590 |
| Aliases | cIAP1, HIAP2, MIHB, RNF48, API1, Hiap-2, IAP-2 |
Description
BIRC2 (Baculoviral IAP Repeat Containing 2) encodes the cellular inhibitor of apoptosis protein 1 (cIAP1), a member of the IAP family. cIAP1 inhibits caspases and modulates NF-κB signaling via ubiquitin ligase activity. It is involved in cell survival, proliferation, and immune regulation. Dysregulation of BIRC2 is associated with various cancers, inflammatory disorders, and resistance to therapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression or amplification of BIRC2 inhibits apoptosis, promoting tumor survival and chemoresistance. | NCBI Gene, COSMIC |
| Inflammatory bowel disease | BIRC2 variants may alter NF-κB signaling, contributing to chronic inflammation. | ClinVar, OMIM |
| Lymphoma | BIRC2 translocations or amplifications are recurrent in mucosa-associated lymphoid tissue (MALT) lymphoma. | COSMIC, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 27.8 | High |
| Spleen | 25.3 | High |
| Bone marrow | 22.1 | High |
| Lung | 12.4 | Medium |
| Liver | 8.9 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| A549 | 15.2 | Lung cancer cell line |
| MCF7 | 12.8 | Breast cancer cell line |
| K562 | 22.1 | Leukemia cell line |
| HEK293 | 9.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.1493G>A (p.Arg498Gln) | Missense | 0.2% | Altered ubiquitin ligase activity |
| Amplification | Copy number gain | 5-10% in various cancers | Increased cIAP1 expression, apoptosis inhibition |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations that truncate the protein, impairing anti-apoptotic and signaling functions.
Gain of Function (GOF)
Amplification or overexpression leading to enhanced inhibition of apoptosis and constitutive NF-κB activation.
Dominant Negative (DN)
Missense mutations in the RING domain that disrupt ubiquitin ligase activity, potentially interfering with wild-type cIAP1 function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006915 (apoptotic process) | • GO:0043066 (negative regulation of apoptotic process) |
| • GO:0004842 (ubiquitin-protein transferase activity) | • GO:0007250 (I-kappaB kinase/NF-kappaB signaling) |
| • GO:0008270 (zinc ion binding) | • GO:0031625 (ubiquitin protein ligase binding) |
Pathways
• Apoptosis (KEGG hsa04210)
• NF-kappa B signaling pathway (KEGG hsa04064)
• TNF signaling pathway (KEGG hsa04668)
• RIPK1-mediated regulated necrosis (Reactome R-HSA-5213460)
• SMAC-mediated dissociation of IAP:caspase complexes (Reactome R-HSA-111459)
Protein Summary
cIAP1 (UniProt Q13490) is a 618-amino acid protein containing three baculoviral IAP repeats (BIR) and a RING-type zinc finger domain. It inhibits caspases 3, 7, and 9 via BIR domains and acts as an E3 ubiquitin ligase to target substrates for proteasomal degradation. cIAP1 also ubiquitinates RIPK1 and TRAF2 to modulate NF-κB and MAPK signaling. The protein is predominantly cytoplasmic but can translocate to the nucleus upon certain stimuli.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIRC2 Knockout HEK293 Cell Line | EDJ-KQ543 | Human | 329 | Details Get a Quote |
| BIRC2 Knockout A-549 Cell Line | EDJ-KQ18025 | Human | 329 | Details Get a Quote |
| BIRC2 Knockout HCT 116 Cell Line | EDJ-KQ18917 | Human | 329 | Details Get a Quote |
| BIRC2 Knockout HeLa Cell Line | EDJ-KQ18918 | Human | 329 | Details Get a Quote |
| BIRC2 Knockout HAP1 Cell Line | EDC09593 | Human | 329 | Details Get a Quote |
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