IRF2BP2
Interferon Regulatory Factor 2 Binding Protein 2
Gene Information Card
| Symbol | IRF2BP2 |
|---|---|
| Full Name | Interferon Regulatory Factor 2 Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 359948 ncbi.nlm.nih.gov/gene/359948 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q7Z5L9 |
| OMIM ID | 615332 |
| HGNC ID | 29286 |
| Aliases | IRF2BP2A, IRF2BP2B |
Description
IRF2BP2 encodes a transcriptional corepressor that binds to interferon regulatory factor 2 (IRF2) and modulates interferon signaling. It is involved in immune regulation, cell cycle control, and has been implicated in various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease | Dysregulation of IRF2BP2 alters IRF2-mediated immune responses | GWAS association (PMID: 26192919) |
| Colorectal cancer | IRF2BP2 mutations may affect transcriptional repression of target genes | COSMIC somatic mutation data |
| Lung adenocarcinoma | Altered expression and copy number variations | TCGA data via cBioPortal |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.2 | Low |
| Colon | 7.1 | Low |
| Bone marrow | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney, high expression |
| HeLa | 11.2 | Cervical carcinoma, moderate |
| A549 | 9.8 | Lung carcinoma, moderate |
| K562 | 7.4 | Leukemia, low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | 0.02% | Unknown functional effect |
| c.457_458insA (p.Thr153Asnfs*2) | Frameshift | 0.01% | Loss of function |
| c.784G>A (p.Glu262Lys) | Missense | 0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription corepressor activity (GO:0003714) | • nucleus (GO:0005634) |
| • identical protein binding (GO:0042802) | • regulation of transcription (GO:0006355) |
Pathways
• Interferon gamma signaling (Reactome: R-HSA-877300)
• Transcriptional regulation by IRF2 (Reactome: R-HSA-913531)
Protein Summary
IRF2BP2 is a 587-amino acid protein containing a C-terminal zinc finger domain and an N-terminal IRF2-binding domain. It acts as a transcriptional corepressor by recruiting histone deacetylases and modulating chromatin structure. The protein is predominantly nuclear and expressed in immune tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRF2BP2 Knockout HEK293 Cell Line | EDJ-KQ13862 | Human | 359948 | Details Get a Quote |
| IRF2BP2 Knockout A-549 Cell Line | EDJ-KQ43705 | Human | 359948 | Details Get a Quote |
| IRF2BP2 Knockout HCT 116 Cell Line | EDJ-KQ43706 | Human | 359948 | Details Get a Quote |
| IRF2BP2 Knockout HeLa Cell Line | EDJ-KQ43707 | Human | 359948 | Details Get a Quote |
