LRRFIP2

LRR binding FLII interacting protein 2

Summary

The protein encoded by this gene, along with MYD88, binds to the cytosolic tail of toll-like receptor 4 (TLR4), which results in activation of nuclear factor kappa B signaling. The ubiquitin-like protein FAT10 prevents the interaction of the encoded protein and TLR4, thereby inactivating the nuclear factor kappa B signaling pathway. In addition, this protein can downregulate the NLRP3 inflammasome by recruiting the caspase-1 inhibitor Flightless-I to the inflammasome complex. [provided by RefSeq, Jan 2017]

Known Variants41 total

rsidPosition (GRCh37)AllelesClassClinVar
rs108493:37,095,070C/Tdownstream gene variantbenign
rs7683625153:37,095,347G/Cuncertain significance
rs2017859203:37,095,391C/Tuncertain significance
rs3765222153:37,095,999C/Tuncertain significance
rs10518383763:37,096,597T/Cuncertain significance
rs21101943:37,097,087C/Tdownstream gene variant
rs24718045473:37,100,351C/Auncertain significance
rs7626771723:37,100,352C/Tuncertain significance
rs589702543:37,100,359A/Cbenign
rs1391518903:37,100,367C/Tuncertain significance
rs14687133:37,106,115A/Gintron variant
rs9833414613:37,107,357G/Cuncertain significance
rs3733093503:37,107,396T/Cuncertain significance
rs3746826763:37,107,797T/Cuncertain significance
rs65504483:37,108,896T/Adownstream gene variant
rs1486481073:37,118,345G/Aintron variant
rs7760079463:37,132,996C/Tuncertain significance
rs5324558063:37,132,999C/Tuncertain significance
rs1463757653:37,136,284C/Tuncertain significance
rs7532054113:37,138,112T/Guncertain significance
rs759683723:37,144,422A/Gbenign
rs7656764983:37,144,492C/Auncertain significance
rs9576627543:37,146,959C/Tlikely benign
rs9264290013:37,146,980G/Cuncertain significance
rs3682058313:37,149,566C/Tuncertain significance
rs12239795763:37,149,577C/Tuncertain significance
rs7584121913:37,149,581C/Auncertain significance
rs1449970183:37,150,162T/Clikely benign
rs7733356263:37,151,161T/Cuncertain significance
rs7626115103:37,152,542A/Cuncertain significance
rs13782757293:37,154,437T/Guncertain significance
rs20946046063:37,154,452G/Cuncertain significance
rs13004518703:37,162,994C/Guncertain significance
rs7503352623:37,163,137G/Auncertain significance
rs15599408023:37,163,148G/Auncertain significance
rs1395826273:37,163,155G/Auncertain significance
rs1996047713:37,163,175G/Auncertain significance
rs7792359523:37,169,134A/Guncertain significance
rs24749840173:37,169,153C/Guncertain significance
rs24749841763:37,169,154A/Cuncertain significance
rs3863523873:37,190,384C/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.