IL12RB1

interleukin 12 receptor subunit beta 1

Summary

The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Known Variants455 total

rsidPosition (GRCh37)AllelesClassClinVar
rs40473319:18,169,997A/T3 prime UTR variant—
rs374619019:18,170,384G/A—benign
rs18841551419:18,170,388G/A—uncertain significance
rs37235818819:18,170,418T/C—uncertain significance
rs93364526619:18,170,424C/T—uncertain significance
rs97065117619:18,170,435A/G—likely benign
rs1246131219:18,170,657C/A—benign
rs1788255519:18,170,680G/A—benign
rs137434085519:18,170,687C/T—likely benign
rs214605876719:18,170,688C/T—likely benign
rs75104673019:18,170,689A/G—likely benign
rs76160349719:18,170,694G/A—likely benign
rs121498232019:18,170,700G/A—uncertain significance
rs125359828219:18,170,711T/C—uncertain significance
rs56657660119:18,170,715A/G—uncertain significance
rs20210669919:18,170,727C/T—likely benign
rs19968642019:18,170,773A/G—conflicting classifications of pathogenicity
rs132780511619:18,170,775G/A—uncertain significance
rs214606082919:18,170,785C/T—likely benign
rs77234028219:18,170,790C/A—pathogenic
rs76942417819:18,170,791G/C—likely benign
rs14336741519:18,170,808C/T—likely benign
rs77294559219:18,170,809G/A—uncertain significance
rs76114580519:18,170,810C/T—uncertain significance
rs203400984719:18,170,820A/G—uncertain significance
rs76661613019:18,170,821G/C—conflicting classifications of pathogenicity
rs203401139519:18,170,831A/G—uncertain significance
rs251485179819:18,170,836C/T—likely benign
rs11166274019:18,170,852G/A—uncertain significance
rs147167253619:18,170,862C/T—uncertain significance
rs88605430019:18,170,869G/A—conflicting classifications of pathogenicity
rs14559079419:18,170,874C/A—likely benign
rs251485329819:18,170,896C/T—likely pathogenic
rs251485350719:18,170,907G/A—likely benign
rs74909103219:18,170,909G/T—likely benign
rs77030106619:18,170,913G/A—likely benign
rs187006319:18,170,962C/Tintron variantbenign
rs38348319:18,171,886G/A—benign
rs18266018919:18,171,923C/T—conflicting classifications of pathogenicity
rs251486659519:18,171,925T/A—likely benign
rs140566836519:18,171,929T/A—uncertain significance
rs55406368219:18,171,930A/Csplice region variantpathogenic
rs78146749019:18,171,931C/G—pathogenic
rs56705137819:18,171,937T/C—benign
rs37023889019:18,171,942C/T—benign
rs20184651119:18,171,953A/C—uncertain significance
rs18693502719:18,171,955T/A—uncertain significance
rs37624819919:18,171,958C/T—uncertain significance
rs36896925619:18,171,959G/A—conflicting classifications of pathogenicity
rs101179561119:18,171,973G/A—uncertain significance
rs203409279519:18,171,975G/A—uncertain significance
rs75983953419:18,171,977G/A—conflicting classifications of pathogenicity
rs77580068319:18,171,983C/T—likely benign
rs76349940919:18,171,984G/A—uncertain significance
rs37146136619:18,171,986C/T—conflicting classifications of pathogenicity
rs75165295719:18,171,987G/A—uncertain significance
rs53584484119:18,171,989G/A—likely benign
rs76764329719:18,171,999C/T—uncertain significance
rs124278620819:18,172,000G/A—uncertain significance
rs75061171919:18,172,003C/T—conflicting classifications of pathogenicity
rs1788510219:18,172,004G/A—likely benign
rs251486911719:18,172,013G/A—uncertain significance
rs103728874819:18,172,015G/A—likely benign
rs126674088719:18,172,020G/T—likely benign
rs96238676319:18,172,982G/A—likely benign
rs94843159319:18,173,015A/G—uncertain significance
rs140578712019:18,173,022C/T—uncertain significance
rs142081195219:18,173,023G/T—likely benign
rs36986136419:18,173,045C/T—uncertain significance
rs26760536019:18,173,050G/T—likely benign
rs76895873019:18,173,053G/A—likely benign
rs77475466419:18,173,055C/T—uncertain significance
rs203419329719:18,173,056G/A—conflicting classifications of pathogenicity
rs203419484819:18,173,079C/G—uncertain significance
rs37283350719:18,173,082G/Astop gainedpathogenic
rs52734545819:18,173,083C/A—likely benign
rs77693636319:18,173,085C/T—uncertain significance
rs251488850419:18,173,092G/C—uncertain significance
rs53011667719:18,173,093G/A—likely benign
rs76735107119:18,173,103G/A—likely benign
rs116852926919:18,173,104T/G—likely benign
rs214612090719:18,174,673C/T—likely benign
rs57448606719:18,174,675C/G—likely benign
rs143465455819:18,174,685C/A—likely pathogenic
rs77843023819:18,174,687G/A—uncertain significance
rs214612138319:18,174,688A/T—uncertain significance
rs251492390119:18,174,689T/G—uncertain significance
rs37473271819:18,174,697C/T—uncertain significance
rs37769596419:18,174,698G/A—uncertain significance
rs78147890319:18,174,716C/T—uncertain significance
rs14196877719:18,174,720C/T—benign
rs118144390019:18,174,729C/T—likely benign
rs1157593519:18,174,731C/T—likely benign
rs203436281419:18,174,740C/T—uncertain significance
rs99198166819:18,174,743G/A—pathogenic
rs91783898519:18,174,746C/A—uncertain significance
rs99365566519:18,174,748T/C—uncertain significance
rs76065773919:18,174,753C/T—likely benign
rs37257846919:18,174,754G/A—uncertain significance
rs251492871519:18,174,770C/T—uncertain significance

Showing 100 of 455 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.