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The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]
IRF4 (Interferon Regulatory Factor 4) is a Protein Coding gene. Diseases associated with IRF4 include Skin/Hair/Eye Pigmentation, Variation In, 8 and Marginal Zone B-Cell Lymphoma. Among its related pathways are Apoptosis Modulation and Signaling and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is IRF8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 12374808 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 12374808 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA,NAS | 12374808 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000788 | nuclear nucleosome | IEA | -- |
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IC | 12374808 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytokine Signaling in Immune system | ||
2 | Interferon gamma signaling | ||
3 | NF-kappaB Signaling | ||
4 | Th17 cell differentiation | ||
5 | Dendritic Cells Developmental Lineage Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0019221 | cytokine-mediated signaling pathway | TAS | -- |
GO:0034122 | negative regulation of toll-like receptor signaling pathway | IEA | -- |
GO:0042110 | T cell activation | NAS | 12374808 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IRF4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IRF4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IRF4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Irf4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Irf4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IRF4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IRF4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IRF-4 31 |
|
OneToOne | |
IRF4 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | IRF4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | irf4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | irf4a 30 31 |
|
OneToMany | |
irf4b 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715875 | Likely Benign: not provided | 401,464(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
787537 | Benign: not provided | 401,641(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
792028 | Benign: not provided | 395,889(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs12203592 | Affects: Skin/hair/eye pigmentation, variation in, 8 | 396,321(+) | C/T | INTRON_VARIANT | |
rs901736609 | Uncertain Significance: Skin/hair/eye pigmentation, variation in, 1 | 401,767(+) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10261n54 | CNV | loss | 21841781 |
dgv5869n100 | CNV | gain | 25217958 |
dgv5872n100 | CNV | gain | 25217958 |
dgv5884n100 | CNV | gain | 25217958 |
dgv736n27 | CNV | loss | 19166990 |
dgv990n67 | CNV | gain | 20364138 |
esv2472692 | CNV | deletion | 19546169 |
esv2671956 | CNV | deletion | 23128226 |
esv2759401 | CNV | gain+loss | 17122850 |
esv3607835 | CNV | loss | 21293372 |
esv3607852 | CNV | loss | 21293372 |
nsv1028946 | CNV | gain | 25217958 |
nsv428134 | CNV | gain | 18775914 |
nsv462608 | CNV | loss | 19166990 |
nsv509115 | CNV | insertion | 20534489 |
nsv600779 | CNV | loss | 21841781 |
nsv600780 | CNV | loss | 21841781 |
nsv600781 | CNV | gain | 21841781 |
nsv820552 | CNV | duplication | 20802225 |
nsv821644 | CNV | gain | 15273396 |
nsv823390 | CNV | gain | 20364138 |
nsv830568 | CNV | gain+loss | 17160897 |
nsv830569 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
skin/hair/eye pigmentation, variation in, 8 |
|
|
marginal zone b-cell lymphoma |
|
|
lymphatic system cancer |
|
|
lymphatic system disease |
|
|
mature b-cell neoplasm |
|
|