IFNB1 Gene: Interferon Beta 1 - Function, Disease Associations, and Expression
Comprehensive resource on IFNB1 (Interferon Beta 1), including genomic data, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | IFNB1 |
|---|---|
| Full Name | Interferon Beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p21.3 |
| NCBI Gene ID | 3456 ncbi.nlm.nih.gov/gene/3456 |
| Ensembl ID | ENSG00000171855 |
| UniProt ID | P01574 |
| OMIM ID | 147640 |
| HGNC ID | 5434 |
| Aliases | IFB, IFF, IFN-beta, IFNB |
Description
IFNB1 encodes interferon beta, a type I interferon cytokine critical for innate immune responses. It is produced in response to viral infection and other stimuli, inducing antiviral, antiproliferative, and immunomodulatory effects. Recombinant IFN beta is used therapeutically for multiple sclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Sclerosis | IFN beta modulates immune response, reducing inflammation and relapses; recombinant protein used as therapy. | ClinVar, literature |
| Viral Infections | IFN beta inhibits viral replication by inducing antiviral proteins; deficiency increases susceptibility. | UniProt, literature |
| Systemic Lupus Erythematosus | Altered IFN beta signaling contributes to autoimmune pathology; elevated IFN signature observed. | OMIM, literature |
| Cancer | IFN beta has antiproliferative effects; dysregulation may affect tumor surveillance. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 0.4 | Low |
| Lung | 0.3 | Low |
| Liver | 0.2 | Low |
| Blood | 0.1 | Low |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Induced upon viral infection |
| A549 | 0.0 | Induced by poly(I:C) |
| THP-1 | 0.0 | Induced by LPS or virus |
| MCF7 | 0.0 | Low basal; inducible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1061947 | SNP (5' UTR) | Minor allele frequency ~0.1 | May affect gene expression; associated with altered IFN beta levels |
| rs17860117 | Missense (p.Val10Met) | Rare | Potential impact on protein function; clinical significance uncertain |
| rs1051922 | Synonymous (p.Leu120Leu) | Common | No known functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IFNB1 are rare; they may impair antiviral responses, but no well-characterized pathogenic variants are documented.
Gain of Function (GOF)
Gain-of-function mutations are not reported; overexpression is seen in some autoimmune conditions but not due to mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for IFNB1.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity | • type I interferon receptor binding |
| • immune response | • defense response to virus |
| • positive regulation of cell death | • regulation of innate immune response |
Pathways
• Cytokine-cytokine receptor interaction
• RIG-I-like receptor signaling pathway
• Toll-like receptor signaling pathway
• Cytosolic DNA-sensing pathway
• Influenza A
• Hepatitis C
Protein Summary
Interferon beta (IFN beta) is a secreted cytokine of 187 amino acids (mature form 166 aa) with a molecular weight of ~22 kDa. It binds to the type I interferon receptor (IFNAR1/IFNAR2) to activate JAK-STAT signaling, leading to expression of interferon-stimulated genes. It exhibits antiviral, antiproliferative, and immunomodulatory activities. Recombinant IFN beta-1a and -1b are used to treat relapsing forms of multiple sclerosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFNB1 Knockout HEK293 Cell Line | EDJ-KQ473 | Human | 3456 | Details Get a Quote |
| IFNB1 Knockout HeLa Cell Line | EDJ-KQ53620 | Human | 3456 | Details Get a Quote |
| IFNB1 Knockout A-549 Cell Line | EDJ-KQ62090 | Human | 3456 | Details Get a Quote |
| IFNB1 Knockout HCT 116 Cell Line | EDJ-KQ70574 | Human | 3456 | Details Get a Quote |
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