NFKB2

nuclear factor kappa B subunit 2

Summary

This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Known Variants590 total

rsidPosition (GRCh37)AllelesClassClinVar
rs100504410:104,152,143C/Aregulatory region variant—
rs1276931610:104,152,751G/Aupstream gene variant—
rs54980809110:104,155,172G/A—benign
rs57456577010:104,155,394C/A—benign
rs74874172310:104,155,707G/T—likely benign
rs206110166710:104,155,720G/A—uncertain significance
rs74811484410:104,155,725T/C—likely benign
rs145562222210:104,155,729T/G—uncertain significance
rs20036119210:104,155,730A/G—uncertain significance
rs19951388310:104,155,750G/A—likely benign
rs131852725110:104,155,752C/T—likely benign
rs75955182410:104,155,755C/T—likely benign
rs146767537710:104,155,992A/T—likely benign
rs77274185210:104,155,995C/G—likely benign
rs117593175910:104,156,003A/G—likely benign
rs92247502710:104,156,010G/C—uncertain significance
rs77004226210:104,156,015G/A—likely benign
rs206111028510:104,156,016G/A—uncertain significance
rs116740284110:104,156,017A/G—uncertain significance
rs254457506810:104,156,022A/G—uncertain significance
rs4558193610:104,156,028G/A—benign
rs76459586610:104,156,033T/C—likely benign
rs77473435410:104,156,036T/G—uncertain significance
rs76244210410:104,156,039T/C—likely benign
rs57719024010:104,156,050A/G—uncertain significance
rs75085961310:104,156,054C/T—likely benign
rs137913374810:104,156,062T/C—uncertain significance
rs206111230010:104,156,073G/C—uncertain significance
rs125166759310:104,156,101T/C—likely benign
rs206111634310:104,156,205G/C—likely pathogenic
rs213542889110:104,156,208G/A—uncertain significance
rs254457593410:104,156,216C/T—likely benign
rs36870864810:104,156,220C/T—likely benign
rs75591674310:104,156,245A/C—uncertain significance
rs134304419610:104,156,263G/C—likely benign
rs52900464510:104,156,467C/T—likely benign
rs206112210710:104,156,476C/T—uncertain significance
rs213542939410:104,156,477T/G—likely benign
rs37492429110:104,156,478T/G—likely benign
rs254457716710:104,156,479C/T—uncertain significance
rs254457717810:104,156,483G/C—uncertain significance
rs213542941410:104,156,492G/A—uncertain significance
rs75371420510:104,156,496T/C—likely benign
rs104525971810:104,156,514C/T—likely benign
rs77806130810:104,156,535C/T—likely benign
rs213542948410:104,156,545A/T—uncertain significance
rs36955127610:104,156,553G/A—likely benign
rs146863566310:104,156,556C/T—likely benign
rs77480209810:104,156,558G/A—uncertain significance
rs213542953510:104,156,568T/C—likely benign
rs54704450010:104,156,583G/A—uncertain significance
rs133141292310:104,156,586C/G—uncertain significance
rs37181336210:104,156,600G/C—benign
rs37001511610:104,156,650G/T—likely benign
rs137318007410:104,156,656C/T—likely benign
rs76635920610:104,156,672C/T—likely benign
rs20036941310:104,156,673G/A—uncertain significance
rs76214527510:104,156,690C/T—likely benign
rs131385684010:104,156,696G/A—likely benign
rs206112621610:104,156,702G/C—likely benign
rs158985960410:104,156,709C/A—uncertain significance
rs213542974910:104,156,712A/T—uncertain significance
rs141317469210:104,156,724C/T—uncertain significance
rs254457793010:104,156,732T/C—likely benign
rs132712830010:104,156,738C/T—likely benign
rs11817892510:104,156,742C/T—likely benign
rs75876362210:104,156,761C/T—uncertain significance
rs54850211110:104,156,762G/A—likely benign
rs74713731510:104,156,774C/A—likely benign
rs37336749410:104,156,777C/T—likely benign
rs78173894010:104,156,778G/A—uncertain significance
rs133560828410:104,156,781G/A—uncertain significance
rs254457818410:104,156,822C/T—likely benign
rs74776718310:104,156,827C/T—likely benign
rs19104191010:104,156,828G/A—likely benign
rs1277237410:104,156,911A/G—benign
rs131873619410:104,157,040T/G—likely benign
rs36877577610:104,157,043G/A—likely benign
rs254457913810:104,157,050T/C—likely benign
rs37397141510:104,157,054C/T—likely benign
rs181569336810:104,157,065C/T—likely benign
rs142215598910:104,157,077C/A—likely benign
rs78037283710:104,157,078C/T—likely benign
rs213543034910:104,157,083T/C—likely benign
rs254457926910:104,157,091A/G—uncertain significance
rs37748013510:104,157,101G/A—uncertain significance
rs213543039610:104,157,116A/G—uncertain significance
rs77045687110:104,157,134G/A—likely benign
rs77607570510:104,157,135C/T—uncertain significance
rs105606453110:104,157,136G/A—uncertain significance
rs75948970310:104,157,137G/C—likely benign
rs77537908110:104,157,142G/A—uncertain significance
rs134814198110:104,157,145C/T—uncertain significance
rs76434632210:104,157,161T/C—likely benign
rs4558693510:104,157,164G/A—uncertain significance
rs76760364210:104,157,171G/A—uncertain significance
rs18321850810:104,157,174G/A—likely benign
rs156520571910:104,157,176A/G—likely benign
rs78056882410:104,157,180G/A—likely benign
rs88911778910:104,157,181G/T—likely benign

Showing 100 of 590 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.