IRF4 Chromosome 6

Interferon regulatory factor 4
8 variants 7 Health Risk 1 Trait

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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
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
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