NFKBIZ

NFKB inhibitor zeta

Summary

This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants43 total

rsidPosition (GRCh37)AllelesClassClinVar
rs173476443:101,547,733C/G
rs6457813:101,562,980G/C
rs7481156133:101,568,512G/Cuncertain significance
rs1893920973:101,568,645C/Tuncertain significance
rs13018031613:101,568,647G/Auncertain significance
rs7492416993:101,568,714C/Tlikely benign
rs7554214823:101,568,717T/Cuncertain significance
rs7791171013:101,568,755C/Alikely benign
rs6165973:101,569,726A/G
rs6007183:101,570,375A/C
rs7813164863:101,571,015C/Tuncertain significance
rs1451633863:101,571,028A/Guncertain significance
rs7561613683:101,571,741A/Guncertain significance
rs12770178603:101,571,792C/Auncertain significance
rs2017261563:101,571,959G/Auncertain significance
rs3701412853:101,571,963A/Guncertain significance
rs1500915283:101,572,097G/Auncertain significance
rs2011782993:101,572,121G/Auncertain significance
rs1383594793:101,572,167C/Tuncertain significance
rs13129132553:101,572,194G/Cuncertain significance
rs1462108193:101,572,221C/Tuncertain significance
rs7492582013:101,572,230A/Guncertain significance
rs1999808453:101,572,310C/Tlikely benign
rs7809132823:101,572,311C/Guncertain significance
rs1463557203:101,572,317C/Guncertain significance
rs24720857503:101,572,372T/Guncertain significance
rs3714734383:101,572,392T/Clikely benign
rs7778896013:101,572,431C/Guncertain significance
rs2009899953:101,572,544T/Guncertain significance
rs24720861863:101,572,547G/Tuncertain significance
rs24720863483:101,572,656T/Cuncertain significance
rs10388285023:101,572,662A/Guncertain significance
rs2010228503:101,572,682C/Guncertain significance
rs7762739583:101,573,432A/Guncertain significance
rs6770113:101,574,503G/Aregulatory region variant
rs7810013723:101,574,696G/Auncertain significance
rs7781590313:101,574,733C/Tuncertain significance
rs1400778563:101,575,921G/Auncertain significance
rs19430604283:101,575,939C/Tuncertain significance
rs24720922083:101,575,961A/Cuncertain significance
rs7717854303:101,575,972A/Tuncertain significance
rs3732410263:101,576,011C/Guncertain significance
rs3743274663:101,578,169G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.