IRF4

interferon regulatory factor 4

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]

Known Variants249 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1474300426:392,364A/Gregulatory region variant—
rs95019986:392,783G/A—benign
rs793242286:392,866A/G—benign
rs13846143736:393,154T/G—likely benign
rs21274360446:393,158C/T—likely benign
rs9704128996:393,159C/T—likely benign
rs5649414136:393,166G/A—uncertain significance
rs12966463776:393,168G/C—uncertain significance
rs7696959466:393,172G/A—uncertain significance
rs1398844866:393,175G/A—conflicting classifications of pathogenicity
rs7661415806:393,179C/T—likely benign
rs5469564886:393,188C/G—uncertain significance
rs9894302466:393,191C/T—likely benign
rs12650682056:393,193T/C—uncertain significance
rs10006987476:393,205G/C—uncertain significance
rs9452357166:393,218G/A—likely benign
rs21274360916:393,225C/G—uncertain significance
rs5667567786:393,227C/T—likely benign
rs17611650926:393,238T/G—uncertain significance
rs24808061436:393,243C/G—uncertain significance
rs3696881406:393,264C/T—likely benign
rs1440202406:393,272G/A—likely benign
rs7641591536:393,281G/A—likely benign
rs9340996066:393,285G/C—uncertain significance
rs7481949466:393,317G/A—likely benign
rs1143212766:393,323G/T—likely benign
rs21274361456:393,335C/G—uncertain significance
rs747468126:393,359G/A—likely benign
rs7591826466:393,375G/A—likely benign
rs24808066976:393,377C/T—likely benign
rs11809005126:393,388G/T—likely benign
rs26714286:394,643C/T—benign
rs27973086:394,711T/A—benign
rs10357471826:394,801T/G—likely benign
rs7456227416:394,802C/T—likely benign
rs13389396306:394,823T/G—likely benign
rs13563650526:394,838A/G—likely benign
rs13023275196:394,848C/T—uncertain significance
rs13773174536:394,849G/A—uncertain significance
rs1445931926:394,866C/G—conflicting classifications of pathogenicity
rs2021243836:394,867C/A—likely benign
rs12083327766:394,868G/A—likely benign
rs1166099636:394,880C/G—likely benign
rs24808110546:394,888C/G—pathogenic
rs1454785586:394,889G/A—likely benign
rs24808110706:394,891G/C—uncertain significance
rs11850061296:394,898G/T—likely benign
rs17612133836:394,901C/G—uncertain significance
rs17612135196:394,913G/T—uncertain significance
rs3745887856:394,932C/A—uncertain significance
rs7538427326:394,941C/T—uncertain significance
rs9443816206:394,942G/A—uncertain significance
rs1128964286:394,958C/T—likely benign
rs7787122896:394,967G/A—likely benign
rs24808112796:394,969A/G—uncertain significance
rs24808112876:394,977T/C—uncertain significance
rs7458766316:394,981G/A—conflicting classifications of pathogenicity
rs24808112916:394,982G/T—uncertain significance
rs24808114006:395,007G/A—uncertain significance
rs2005042366:395,009T/C—uncertain significance
rs17612155086:395,011G/C—uncertain significance
rs3696234606:395,016T/G—likely benign
rs7683991446:395,020C/T—likely benign
rs24808114536:395,025T/C—likely benign
rs69306356:395,634C/T—benign
rs7502633286:395,834C/T—likely benign
rs24808134196:395,838A/T—likely benign
rs7584435576:395,850C/T—uncertain significance
rs7806947416:395,863C/G—likely benign
rs115574936:395,864C/G—uncertain significance
rs7728069546:395,875G/A—likely benign
rs1156131126:395,881G/A—uncertain significance
rs737170716:395,889G/A—benign
rs7760196766:395,890C/T—likely benign
rs2011855286:395,891C/T—uncertain significance
rs7610276286:395,902C/G—likely benign
rs7554606156:395,910C/T—likely benign
rs7651933566:395,911G/T—likely benign
rs24808136656:395,912C/T—uncertain significance
rs1480224066:395,923G/A—likely benign
rs17612411926:395,926C/G—likely benign
rs13360484526:395,946G/A—likely benign
rs38233056:396,121G/C—benign
rs122035926:396,321C/Tintron variantaffects
rs126623026:397,013G/A—benign
rs5486652676:397,101C/T—benign
rs24808165456:397,103T/G—likely benign
rs17612846096:397,104T/G—likely benign
rs3752689816:397,105T/C—benign
rs2006111696:397,115A/G—uncertain significance
rs7671667886:397,116C/G—uncertain significance
rs7525125086:397,122C/T—likely benign
rs7559052426:397,127T/C—uncertain significance
rs24808166396:397,132C/A—uncertain significance
rs3757263896:397,137C/T—likely benign
rs14619306926:397,138G/T—uncertain significance
rs9999456566:397,142G/A—uncertain significance
rs8665166676:397,156T/C—benign
rs7474371806:397,157A/G—uncertain significance
rs5580616526:397,158C/T—likely benign

Showing 100 of 249 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.