IRF4 Chromosome 6
Interferon regulatory factor 4
Upload your DNA to see your personal genotypes for variants in IRF4.
What This Gene Does
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]
Gene Info
Gene Group
Interferon regulatory factors
Locus Type
gene with protein product
Location
6p25.3
Ensembl
ENSG00000137265
Associated Conditions (4)
Immunodeficiency 131
Skin/hair/eye pigmentation
variation in
8
Key Variants
RS139858073
Conflicting classifications of pathogenicity
Health Risk
RS139884486
Conflicting classifications of pathogenicity
Health Risk
RS140099868
Conflicting classifications of pathogenicity
Health Risk
RS144593192
Conflicting classifications of pathogenicity
Health Risk
RS745876631
Conflicting classifications of pathogenicity
Health Risk
RS2480811054
Pathogenic
Immunodeficiency 131, Immunodeficiency 131
Health Risk
RS2480826321
Pathogenic
Immunodeficiency 131, Immunodeficiency 131
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139858073 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139884486 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140099868 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144593192 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745876631 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2480811054 | Health Risk | Pathogenic | Immunodeficiency 131, Immunodeficiency 131 |
| RS2480826321 | Health Risk | Pathogenic | Immunodeficiency 131, Immunodeficiency 131 |
| RS12203592 | Trait | Affects | Skin/hair/eye pigmentation, variation in, 8 |