IL4R

interleukin 4 receptor

Summary

This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

Known Variants91 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2107356	16:27,323,404	C/T	upstream gene variant	—
rs12927172	16:27,325,021	A/G	regulatory region variant	—
rs8060025	16:27,327,214	T/C	—	—
rs4787951	16:27,343,963	T/C	intron variant	—
rs143021546	16:27,348,484	G/C	intron variant	—
rs17548704	16:27,353,479	C/T	—	benign
rs1051167644	16:27,353,504	G/A	—	uncertain significance
rs2506949151	16:27,353,505	A/G	—	uncertain significance
rs200293983	16:27,353,540	G/A	—	uncertain significance
rs191774649	16:27,353,546	C/T	—	uncertain significance
rs141204698	16:27,353,589	G/C	—	benign
rs1805010	16:27,356,203	A/G	missense variant	uncertain significance
rs145184963	16:27,356,217	C/T	—	benign
rs144651842	16:27,356,224	G/A	—	benign
rs750194290	16:27,356,225	C/T	—	likely benign
rs112497527	16:27,356,271	T/C	—	benign
rs141903283	16:27,356,335	G/A	—	uncertain significance
rs1298315319	16:27,357,796	A/G	—	uncertain significance
rs139150588	16:27,357,863	C/T	—	uncertain significance
rs2506982742	16:27,357,922	G/C	—	uncertain significance
rs2234895	16:27,357,927	C/T	synonymous variant	—
rs145986476	16:27,359,515	C/A	intron variant	—
rs3024585	16:27,359,844	G/A	intron variant	—
rs2085914263	16:27,363,867	A/G	—	likely benign
rs2085917222	16:27,363,942	G/A	—	uncertain significance
rs987774304	16:27,363,948	G/A	—	uncertain significance
rs2507018064	16:27,363,995	C/A	—	uncertain significance
rs151096314	16:27,365,278	A/G	regulatory region variant	—
rs3024622	16:27,365,453	C/A	—	—
rs3024632	16:27,366,296	T/C	intron variant	—
rs758556524	16:27,367,145	C/G	—	likely benign
rs1485455611	16:27,367,146	G/A	—	uncertain significance
rs3024638	16:27,367,226	C/G	—	benign
rs55988941	16:27,370,278	G/A	—	benign
rs776533558	16:27,370,283	C/T	—	uncertain significance
rs766606481	16:27,370,284	G/A	—	likely benign
rs2234896	16:27,370,288	C/G	—	benign
rs1278403331	16:27,370,298	A/G	—	likely benign
rs1596538104	16:27,370,325	G/C	—	likely benign
rs3024664	16:27,371,424	T/A	—	—
rs551180670	16:27,372,078	G/C	—	likely benign
rs143309296	16:27,372,112	G/A	—	uncertain significance
rs2086322563	16:27,373,602	T/C	—	uncertain significance
rs200815396	16:27,373,641	A/T	—	uncertain significance
rs372264723	16:27,373,745	G/A	—	uncertain significance
rs141632606	16:27,373,773	C/A	—	likely benign
rs2507085274	16:27,373,792	G/C	—	uncertain significance
rs6413500	16:27,373,833	C/T	—	conflicting classifications of pathogenicity
rs2507085795	16:27,373,851	A/T	—	uncertain significance
rs1805011	16:27,373,872	A/G	missense variant	benign
rs2234898	16:27,373,915	G/T	—	benign
rs2086338655	16:27,373,954	G/T	—	uncertain significance
rs1805012	16:27,373,964	T/C	missense variant	benign
rs2234900	16:27,373,972	T/C	—	benign
rs1805013	16:27,373,980	C/G	missense variant	—
rs142800677	16:27,374,052	G/T	—	uncertain significance
rs143884629	16:27,374,098	G/A	—	likely benign
rs1048483997	16:27,374,112	A/G	—	uncertain significance
rs35606110	16:27,374,147	G/A	—	benign
rs34727572	16:27,374,148	C/T	—	likely benign
rs1805015	16:27,374,180	T/C	missense variant	not provided
rs139725604	16:27,374,238	A/G	—	uncertain significance
rs201209601	16:27,374,336	C/T	—	uncertain significance
rs145421275	16:27,374,348	C/G	—	uncertain significance
rs149213624	16:27,374,374	C/T	—	likely benign
rs1801275	16:27,374,400	A/G	missense variant	benign
rs3024677	16:27,374,408	G/A	—	benign
rs369069251	16:27,374,431	C/T	—	likely benign
rs1177757261	16:27,374,433	C/T	—	likely benign
rs138392496	16:27,374,447	G/T	—	uncertain significance
rs111360541	16:27,374,513	G/A	—	uncertain significance
rs2507096140	16:27,374,586	T/C	—	likely benign
rs372491173	16:27,374,667	C/T	—	uncertain significance
rs555008702	16:27,374,699	G/C	—	uncertain significance
rs746246484	16:27,374,721	G/A	—	uncertain significance
rs138531957	16:27,374,730	T/C	—	uncertain significance
rs2086378487	16:27,374,750	C/T	—	uncertain significance
rs779044214	16:27,374,780	C/G	—	uncertain significance
rs2086380689	16:27,374,801	G/A	—	uncertain significance
rs750480828	16:27,374,921	G/A	—	uncertain significance
rs541468767	16:27,374,922	A/G	—	uncertain significance
rs1805016	16:27,374,927	T/G	missense variant	—
rs142940261	16:27,375,022	G/A	—	likely benign
rs2507102257	16:27,375,023	G/A	—	uncertain significance
rs1805014	16:27,375,029	T/C	—	benign
rs2507103072	16:27,375,086	T/G	—	uncertain significance
rs1200865336	16:27,375,098	C/T	—	uncertain significance
rs147700319	16:27,375,116	G/A	—	uncertain significance
rs2074570	16:27,375,157	T/C	—	benign
rs8832	16:27,375,787	A/G	regulatory region variant	—
rs1029489	16:27,376,217	A/G	regulatory region variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.