BIRC3: Baculoviral IAP Repeat Containing 3
A key regulator of apoptosis, immunity, and cancer susceptibility
Gene Information Card
| Symbol | BIRC3 |
|---|---|
| Full Name | Baculoviral IAP Repeat Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.2 |
| NCBI Gene ID | 330 ncbi.nlm.nih.gov/gene/330 |
| Ensembl ID | ENSG00000023445 |
| UniProt ID | Q13489 |
| OMIM ID | 601721 |
| HGNC ID | 591 |
| Aliases | cIAP2, HIAP1, MALT2, RNF49, API2 |
Description
BIRC3 encodes cIAP2, a member of the inhibitor of apoptosis protein (IAP) family. It inhibits caspases and modulates NF-kB signaling, playing a critical role in cell survival, innate immunity, and inflammation. Overexpression or mutation of BIRC3 is implicated in various cancers and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucosa-associated lymphoid tissue lymphoma (MALT) | BIRC3-MALT1 fusion leads to constitutive NF-kB activation | PMID: 10591208 |
| Multiple myeloma | BIRC3 mutations cause NF-kB pathway hyperactivation | PMID: 22490332 |
| Waldenström macroglobulinemia | Somatic mutations in BIRC3 activate non-canonical NF-kB | PMID: 23029122 |
| Splenic marginal zone lymphoma | Loss-of-function mutations in BIRC3 promote NF-kB signaling | PMID: 22490332 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Medium |
| Small intestine | 6.1 | Low |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 7.5 | Medium expression |
| MCF7 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2038C>T (p.Gln680*) | Nonsense | 0.2% in lymphoid malignancies | Loss of function, truncation of C-terminal RING domain |
| c.1318_1319del (p.Leu440fs) | Frameshift | 0.1% in multiple myeloma | Loss of function, impaired ubiquitin ligase activity |
| BIRC3-MALT1 fusion | Structural variant | Recurrent in MALT lymphoma | Gain of function, constitutive NF-kB activation |
Mutation functional classification
Loss of Function (LOF)
Truncating mutations (nonsense, frameshift) in the RING domain abolish E3 ubiquitin ligase activity, leading to stabilization of NIK and constitutive non-canonical NF-kB signaling.
Gain of Function (GOF)
BIRC3-MALT1 fusion proteins drive constitutive NF-kB activation via aberrant ubiquitination and scaffolding.
Dominant Negative (DN)
Some missense mutations in the BIR domains may interfere with wild-type cIAP2 function, though dominant-negative effects are less characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kB signaling pathway (KEGG: hsa04064)
• Apoptosis (KEGG: hsa04210)
• RIPK1-mediated regulated necrosis (Reactome: R-HSA-5213460)
• TRAF6-mediated NF-kB activation (Reactome: R-HSA-933542)
Protein Summary
cIAP2 (BIRC3) is a 68 kDa protein containing three baculoviral IAP repeats (BIR) and a C-terminal RING finger domain. It functions as an E3 ubiquitin ligase, targeting caspases and components of the NF-kB pathway for degradation. cIAP2 also serves as a scaffold in TNFR signaling complexes, promoting cell survival and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIRC3 Knockout HEK293 Cell Line | EDJ-KQ1408 | Human | 330 | Details Get a Quote |
| BIRC3 Knockout A-549 Cell Line | EDJ-KQ20946 | Human | 330 | Details Get a Quote |
| BIRC3 Knockout HCT 116 Cell Line | EDJ-KQ20947 | Human | 330 | Details Get a Quote |
| BIRC3 Knockout HeLa Cell Line | EDJ-KQ20948 | Human | 330 | Details Get a Quote |
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