IL2RA

interleukin 2 receptor subunit alpha

Summary

The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]

Known Variants298 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1272260910:6,052,644A/C—benign
rs88604707010:6,052,657A/T—uncertain significance
rs75710776810:6,052,691A/C—uncertain significance
rs54924503110:6,052,704T/C—uncertain significance
rs7489524610:6,052,727A/C—benign
rs56103274610:6,052,780A/G—uncertain significance
rs1272260810:6,052,841C/A—benign
rs1272272010:6,052,861G/A—uncertain significance
rs1272260710:6,052,955G/C—benign
rs7497393710:6,053,063T/G—likely benign
rs96118761410:6,053,069A/G—uncertain significance
rs1272260610:6,053,133G/A—benign
rs1272260510:6,053,163T/A3 prime UTR variantbenign
rs88604707110:6,053,185C/T—uncertain significance
rs183918643310:6,053,192G/T—uncertain significance
rs77362698910:6,053,216C/T—uncertain significance
rs88604707210:6,053,260C/T—uncertain significance
rs88604707310:6,053,261G/A—uncertain significance
rs1272260410:6,053,286A/G—benign
rs88604707410:6,053,296A/G—uncertain significance
rs89435857310:6,053,335A/G—uncertain significance
rs1224438010:6,053,374G/A—benign
rs88604707510:6,053,381T/C—uncertain significance
rs94669746810:6,053,392C/G—uncertain significance
rs158928769010:6,053,409C/T—uncertain significance
rs157053810:6,053,568T/C—benign
rs1272260310:6,053,649G/A—uncertain significance
rs130551235410:6,053,751G/A—uncertain significance
rs5588585310:6,053,774G/A—likely benign
rs57258968210:6,053,791A/G—uncertain significance
rs54281230810:6,053,793C/T—uncertain significance
rs14152474610:6,053,794G/A—uncertain significance
rs2836048410:6,053,809C/A—uncertain significance
rs1272271810:6,053,811C/T—benign
rs3416417210:6,053,827C/T—benign
rs1272260210:6,053,866T/C—benign
rs52758902410:6,053,872T/G—uncertain significance
rs158928797910:6,053,940A/T—uncertain significance
rs14766911610:6,053,946C/T—uncertain significance
rs1272271610:6,053,947G/A—likely benign
rs88604707610:6,053,951G/A—uncertain significance
rs14341654210:6,054,068G/A—uncertain significance
rs4129032910:6,054,083T/C—likely benign
rs1271991910:6,054,158C/T—benign
rs56619460610:6,054,159G/A—uncertain significance
rs88604707710:6,054,163T/C—uncertain significance
rs54160107010:6,054,236G/C—uncertain significance
rs183920330210:6,054,322A/G—uncertain significance
rs55311248510:6,054,364C/T—uncertain significance
rs1272260110:6,054,391A/T—uncertain significance
rs88604707810:6,054,421G/A—uncertain significance
rs178463910010:6,054,574T/C—uncertain significance
rs54294258410:6,054,652G/T—likely benign
rs1272271410:6,054,728G/A—likely benign
rs88604708010:6,054,732G/A—uncertain significance
rs88604708110:6,054,742C/T—uncertain significance
rs1272260010:6,054,765C/T—benign
rs1272271310:6,054,780A/G—benign
rs183921080910:6,054,836T/G—uncertain significance
rs1272271210:6,054,839A/G—uncertain significance
rs77598051310:6,054,841T/C—likely benign
rs148901826210:6,054,847T/C—likely benign
rs77453113010:6,054,848C/T—uncertain significance
rs213284068910:6,054,857C/T—uncertain significance
rs75028573410:6,054,866T/C—likely benign
rs54888943910:6,054,875A/G—likely benign
rs707610310:6,054,951C/T—benign
rs139432834310:6,060,000G/C—likely benign
rs213284805710:6,060,006C/G—likely benign
rs1272269910:6,060,015C/G—uncertain significance
rs53634494610:6,060,022C/T—conflicting classifications of pathogenicity
rs14008869110:6,060,023G/A—uncertain significance
rs55468086910:6,060,033G/T—conflicting classifications of pathogenicity
rs75379791810:6,060,037C/T—uncertain significance
rs75503481310:6,060,042C/T—likely benign
rs14355076610:6,060,053C/T—uncertain significance
rs11342857710:6,060,054G/A—likely benign
rs75119230410:6,060,055C/T—uncertain significance
rs1272269810:6,060,057G/A—benign
rs213284823910:6,060,063C/T—likely benign
rs76920609710:6,060,077C/T—uncertain significance
rs77940324410:6,060,078G/A—conflicting classifications of pathogenicity
rs137131419310:6,060,079G/A—uncertain significance
rs7416210010:6,060,081C/T—uncertain significance
rs7416209910:6,060,085G/A—uncertain significance
rs20195587710:6,060,090T/C—likely benign
rs76085032310:6,060,092G/C—likely benign
rs77662760010:6,060,094G/C—likely benign
rs213285027210:6,061,372A/G—likely benign
rs131221863710:6,061,381C/G—likely benign
rs74724432610:6,061,382C/T—likely benign
rs124700119710:6,061,394C/A—uncertain significance
rs77320057610:6,061,397C/G—uncertain significance
rs253964013110:6,061,404C/T—likely benign
rs1125635410:6,061,407T/C—likely benign
rs37575609110:6,061,418T/C—uncertain significance
rs76283753410:6,061,422C/T—likely benign
rs76365192610:6,061,423G/A—uncertain significance
rs13926675010:6,061,425C/T—conflicting classifications of pathogenicity
rs15006041510:6,061,427C/G—likely benign

Showing 100 of 298 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.