IRF4 interferon regulatory factor 4
Gene ID: 3662, updated on 3-Apr-2024Gene type: protein coding
Also known as: MUM1; LSIRF; SHEP8; NF-EM5
- See all available tests in GTR for this gene
- Go to complete Gene record for IRF4
- Go to Variation Viewer for IRF4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. GeneReviews: Not available | |
| A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. GeneReviews: Not available | |
| Genetic determinants of hair, eye and skin pigmentation in Europeans. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. GeneReviews: Not available | |
| Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Genome-wide association study of serum albumin:globulin ratio in Korean populations. GeneReviews: Not available | |
| Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available | |
| Skin/hair/eye pigmentation, variation in, 8 | See labs |
| Web-based, participant-driven studies yield novel genetic associations for common traits. GeneReviews: Not available |
Genomic context
- Location:
- 6p25.3
- Sequence:
- Chromosome: 6; NC_000006.12 (391752..411443)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IRF4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IRF4 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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