IFNA2 Gene (Interferon Alpha 2): Function, Disease Associations, and Clinical Significance
A comprehensive biomedical overview of the IFNA2 gene, including genomic context, protein function, expression patterns, disease links, and mutation landscape.
Gene Information Card
| Symbol | IFNA2 |
|---|---|
| Full Name | Interferon Alpha 2 |
| Gene Type | protein coding |
| Chromosomal Location | 9p21.3 |
| NCBI Gene ID | 3440 ncbi.nlm.nih.gov/gene/3440 |
| Ensembl ID | ENSG00000188379 |
| UniProt ID | P01563 |
| OMIM ID | 147562 |
| HGNC ID | 5393 |
| Aliases | IFNA, IFN-alphaA, IFNA2B, INFA2, MGC12530, MGC12531 |
Description
IFNA2 encodes interferon alpha 2, a type I interferon cytokine that plays a critical role in innate immunity, antiviral defense, and modulation of immune responses. It is produced primarily by plasmacytoid dendritic cells and leukocytes in response to viral infection. IFNA2 binds to the type I interferon receptor (IFNAR1/IFNAR2) and activates the JAK-STAT signaling pathway, leading to the expression of interferon-stimulated genes (ISGs) that inhibit viral replication and promote immune cell activation. Clinically, recombinant IFNA2 (e.g., interferon alfa-2a and alfa-2b) is used to treat hepatitis B/C, certain leukemias, and melanoma. Mutations or dysregulation of IFNA2 are associated with autoimmune diseases and viral susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatitis C | IFNA2 is used therapeutically; host genetic variants may influence response to therapy. | ClinVar; PMID: 21782229 |
| Hepatitis B | IFNA2 therapy is standard; viral clearance is influenced by IFNA2 signaling. | ClinVar; PMID: 21782229 |
| Autoimmune diseases (e.g., systemic lupus erythematosus) | Altered IFNA2 expression and signaling contribute to immune dysregulation. | OMIM; PMID: 25642633 |
| Viral infections (e.g., influenza, SARS-CoV-2) | IFNA2 is critical for antiviral response; deficiency increases susceptibility. | PMID: 32408338 |
| Cancers (e.g., melanoma, hairy cell leukemia) | IFNA2 has antiproliferative effects; used as therapeutic agent. | COSMIC; PMID: 21782229 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 0.0 | Not detected |
| Lymph node | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Blood | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed in unstimulated cells; inducible by viral infection |
| K-562 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
| THP-1 | 0.0 | Not expressed; inducible by LPS or virus |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2069705 | SNP (promoter) | Allele frequency varies by population | May affect IFNA2 expression and response to viral infection |
| rs1061237 | SNP (coding, synonymous) | Minor allele frequency ~0.2 | No known functional effect |
| rs121909244 | Missense (p.Arg121Trp) | Rare | Reported in association with increased susceptibility to viral infections (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IFNA2 are rare and may impair antiviral responses, leading to increased susceptibility to viral infections. However, no well-characterized pathogenic loss-of-function variants have been extensively documented in ClinVar.
Gain of Function (GOF)
Gain-of-function mutations are not commonly reported for IFNA2. Overexpression of IFNA2 is associated with autoimmune pathology, but this is typically due to dysregulation rather than mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for IFNA2.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity | • type I interferon receptor binding |
| • immune response | • defense response to virus |
| • JAK-STAT cascade | • positive regulation of cell proliferation |
| • negative regulation of cell proliferation | • signal transduction |
Pathways
• Interferon alpha/beta signaling (Reactome: R-HSA-909733)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• JAK-STAT signaling pathway (KEGG: hsa04630)
• Influenza A (KEGG: hsa05164)
• Hepatitis C (KEGG: hsa05160)
Protein Summary
IFNA2 is a 165-amino acid protein (mature form) with a molecular weight of approximately 19.5 kDa. It belongs to the type I interferon family and shares structural homology with other interferons. The protein contains five alpha-helices and is stabilized by two disulfide bonds. IFNA2 binds to the IFNAR1/IFNAR2 receptor complex, triggering phosphorylation of STAT1 and STAT2, which form a complex with IRF9 to induce ISG transcription. Post-translational modifications include glycosylation at Asn80, which is not required for activity. Recombinant IFNA2 is used clinically as an antiviral and anticancer agent.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFNA2 Knockout HEK293 Cell Line | EDJ-KQ470 | Human | 3440 | Details Get a Quote |
| IFNA21 Knockout HEK293 Cell Line | EDJ-KQ50383 | Human | 3452 | Details Get a Quote |
| IFNA2 Knockout HeLa Cell Line | EDJ-KQ53607 | Human | 3440 | Details Get a Quote |
| IFNA21 Knockout HeLa Cell Line | EDJ-KQ53618 | Human | 3452 | Details Get a Quote |
| IFNA2 Knockout A-549 Cell Line | EDJ-KQ62077 | Human | 3440 | Details Get a Quote |
| IFNA21 Knockout A-549 Cell Line | EDJ-KQ62088 | Human | 3452 | Details Get a Quote |
| IFNA2 Knockout HCT 116 Cell Line | EDJ-KQ70561 | Human | 3440 | Details Get a Quote |
| IFNA21 Knockout HCT 116 Cell Line | EDJ-KQ70572 | Human | 3452 | Details Get a Quote |
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