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This gene encodes a cytokine that belongs to the interferon family of signaling proteins, which are released as part of the innate immune response to pathogens. The protein encoded by this gene belongs to the type I class of interferons, which are important for defense against viral infections. In addition, type I interferons are involved in cell differentiation and anti-tumor defenses. Following secretion in response to a pathogen, type I interferons bind a homologous receptor complex and induce transcription of genes such as those encoding inflammatory cytokines and chemokines. Overactivation of type I interferon secretion is linked to autoimmune diseases. Mice deficient for this gene display several phenotypes including defects in B cell maturation and increased susceptibility to viral infection. [provided by RefSeq, Sep 2015]
IFNB1 (Interferon Beta 1) is a Protein Coding gene. Diseases associated with IFNB1 include Secondary Progressive Multiple Sclerosis and Primary Progressive Multiple Sclerosis. Among its related pathways are all-trans-Retinoic Acid Mediated Apoptosis and Tuberculosis. Gene Ontology (GO) annotations related to this gene include cytokine activity and type I interferon receptor binding. An important paralog of this gene is IFNA2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH09J021077 | Promoter/Enhancer | 0.8 | EPDnew Ensembl | 600.7 | -0.5 | -459 | 1.6 | CTCF SCRT2 SCRT1 ELF1 ZNF143 RAD21 SPI1 | IFNB1 HACD4 piR-61240-295 IFNW1 | |
GH09J021094 | Enhancer | 0.9 | FANTOM5 ENCODE | 0.4 | -18.1 | -18055 | 3.1 | IKZF2 SCRT2 CEBPB ARID3A DPF2 ZNF217 MAX EP300 IKZF1 GATA3 | HACD4 FOCAD piR-61240-295 IFNWP4 IFNB1 IFNW1 | |
GH09J021069 | Enhancer | 0.6 | ENCODE | 0.4 | +7.8 | 7785 | 1.3 | CTCF PRDM1 SP1 JUND JUN MAFF FOS MAFK EP300 FOSL2 | HACD4 IFNB1 IFNNP1 lnc-IFNB1-1 | |
GH09J021061 | Enhancer | 0.7 | Ensembl ENCODE | 0.4 | +16.8 | 16841 | 1 | IKZF2 RELB RUNX3 SPI1 MYC MAX IKZF1 | IFNNP1 lnc-IFNB1-1 HACD4 IFNB1 | |
GH09J021081 | Enhancer | 0.3 | ENCODE | 0.7 | -4.3 | -4255 | 0.2 | RUNX3 | IFNB1 piR-61240-295 IFNW1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005125 | cytokine activity | IDA | 19008854 |
GO:0005126 | cytokine receptor binding | IEA | -- |
GO:0005132 | type I interferon receptor binding | NAS | 2414376 |
GO:0008811 | chloramphenicol O-acetyltransferase activity | IMP | 19176627 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Toll-like Receptor Signaling Pathway |
.37
.34
|
|
2 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
3 | Immune response IFN alpha/beta signaling pathway |
Immune response IFN alpha/beta signaling pathway
.74
|
Cytokine Network
.30
|
4 | Measles |
.35
|
.33
|
5 | Human cytomegalovirus infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IBA | 21873635 |
GO:0002286 | T cell activation involved in immune response | IBA | 21873635 |
GO:0002312 | B cell activation involved in immune response | IMP | 12932356 |
GO:0002323 | natural killer cell activation involved in immune response | IBA | 21873635 |
GO:0006952 | defense response | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IFNB1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IFNB1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ifnb1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ifnb1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IFNB2 31 |
|
OneToMany | |
IL6 31 |
|
OneToMany | |||
IFNB3 31 |
|
OneToMany | |||
IFNB1 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | IFN1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IFN5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
717236 | Benign: not provided | 21,077,642(-) | G/A | SYNONYMOUS_VARIANT | |
718451 | Benign: not provided | 21,077,372(-) | T/C | MISSENSE_VARIANT | |
780797 | Benign: not provided | 21,077,690(-) | G/T | MISSENSE_VARIANT | |
788591 | Benign: not provided | 21,077,638(-) | A/G | SYNONYMOUS_VARIANT | |
VAR_036330 | A breast cancer sample | p.Trp164Cys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2764150 | CNV | gain+loss | 21179565 |
nsv1017312 | CNV | gain | 25217958 |
nsv1161847 | CNV | deletion | 26073780 |
nsv466294 | CNV | loss | 19166990 |
nsv613752 | CNV | loss | 21841781 |
nsv613753 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
secondary progressive multiple sclerosis |
|
|
primary progressive multiple sclerosis |
|
|
relapsing-remitting multiple sclerosis |
|
|
newcastle disease |
|
|
demyelinating disease |
|