IRF2 Gene: Interferon Regulatory Factor 2 - Function, Disease Associations, and Expression
A comprehensive biomedical overview of IRF2, a transcriptional regulator with dual roles in immune response and tumor suppression.
Gene Information Card
| Symbol | IRF2 |
|---|---|
| Full Name | Interferon Regulatory Factor 2 |
| Gene Type | protein coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 3660 ncbi.nlm.nih.gov/gene/3660 |
| Ensembl ID | ENSG00000168397 |
| UniProt ID | P14373 |
| OMIM ID | 147576 |
| HGNC ID | 6117 |
| Aliases | IRF-2 |
Description
IRF2 (Interferon Regulatory Factor 2) is a transcription factor that belongs to the interferon regulatory transcription factor (IRF) family. It binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes and represses their transcription. IRF2 also functions as a tumor suppressor by inhibiting cell proliferation and promoting apoptosis. It is involved in immune responses, hematopoiesis, and antiviral defense. Mutations and altered expression of IRF2 have been linked to various cancers and immune-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Loss of IRF2 expression leads to increased cell proliferation and reduced apoptosis, contributing to tumorigenesis. | PMID: 23285164 |
| Gastric cancer | IRF2 downregulation is associated with poor prognosis and increased metastasis, possibly via activation of oncogenic pathways. | PMID: 28348937 |
| Chronic myeloid leukemia | IRF2 is involved in the regulation of BCR-ABL oncogene expression; altered IRF2 levels may affect disease progression. | PMID: 15644421 |
| Viral infections | IRF2 represses interferon-stimulated genes, modulating antiviral responses; dysregulation can lead to enhanced viral replication. | PMID: 21880743 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 11.8 | Medium |
| Bone marrow | 10.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Brain | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 10.1 | Moderate expression |
| A549 (lung cancer) | 7.8 | Low expression |
| HepG2 (liver cancer) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Ter) | Nonsense | Rare | Loss of function; truncated protein lacking DNA-binding domain |
| c.245A>G (p.Asn82Ser) | Missense | Rare | Altered DNA-binding affinity; potential loss of repressor function |
| c.367G>A (p.Gly123Arg) | Missense | Rare | Impaired protein stability; reduced transcriptional repression |
Mutation functional classification
Loss of Function (LOF)
Mutations that result in truncated or unstable IRF2 protein, leading to loss of transcriptional repression and increased cell proliferation.
Gain of Function (GOF)
No clear gain-of-function mutations reported; IRF2 primarily acts as a repressor, and gain-of-function would be unusual.
Dominant Negative (DN)
Some missense mutations may produce a protein that interferes with wild-type IRF2 function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • DNA-binding transcription factor activity |
| • RNA polymerase II cis-regulatory region sequence-specific DNA binding | • transcription corepressor activity |
| • protein binding | • nucleus |
| • regulation of transcription by RNA polymerase II | • negative regulation of transcription by RNA polymerase II |
| • immune response | • type I interferon signaling pathway |
| • cell population proliferation | • apoptotic process |
Pathways
• Interferon Signaling
• Cytokine Signaling in Immune system
• Immune System
• Innate Immune System
• Toll-like Receptor Signaling Pathway
• RIG-I-like receptor signaling pathway
Protein Summary
IRF2 is a 349-amino acid protein with a conserved N-terminal DNA-binding domain and a C-terminal regulatory domain. It functions as a transcriptional repressor of interferon-stimulated genes by binding to interferon response elements (ISRE) and recruiting corepressors. IRF2 also interacts with other transcription factors and chromatin modifiers to regulate gene expression. Its role in cell cycle control and apoptosis underscores its tumor suppressor function. Post-translational modifications, such as phosphorylation, can modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRF2 Knockout HEK293 Cell Line | EDJ-KQ1668 | Human | 3660 | Details Get a Quote |
| IRF2BPL Knockout HEK293 Cell Line | EDJ-KQ1893 | Human | 64207 | Details Get a Quote |
| IRF2BP1 Knockout HEK293 Cell Line | EDJ-KQ8431 | Human | 26145 | Details Get a Quote |
| IRF2BP2 Knockout HEK293 Cell Line | EDJ-KQ13862 | Human | 359948 | Details Get a Quote |
| IRF2BPL Knockout HCT 116 Cell Line | EDJ-KQ20496 | Human | 64207 | Details Get a Quote |
| IRF2BPL Knockout A-549 Cell Line | EDJ-KQ21797 | Human | 64207 | Details Get a Quote |
| IRF2BPL Knockout HeLa Cell Line | EDJ-KQ21798 | Human | 64207 | Details Get a Quote |
| IRF2 Knockout A-549 Cell Line | EDJ-KQ22761 | Human | 3660 | Details Get a Quote |
| IRF2 Knockout HCT 116 Cell Line | EDJ-KQ22762 | Human | 3660 | Details Get a Quote |
| IRF2 Knockout HeLa Cell Line | EDJ-KQ22763 | Human | 3660 | Details Get a Quote |
| IRF2BP1 Knockout A-549 Cell Line | EDJ-KQ34539 | Human | 26145 | Details Get a Quote |
| IRF2BP1 Knockout HCT 116 Cell Line | EDJ-KQ34540 | Human | 26145 | Details Get a Quote |
| IRF2BP1 Knockout HeLa Cell Line | EDJ-KQ34541 | Human | 26145 | 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 |
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