IL1RL1

interleukin 1 receptor like 1

Summary

The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Known Variants100 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12470864	2:102,926,362	G/A	upstream gene variant	—
rs11685424	2:102,926,981	G/T	—	—
rs11685480	2:102,927,086	G/A	upstream gene variant	—
rs6543116	2:102,927,726	A/G	upstream gene variant	—
rs192784165	2:102,928,178	A/G	intron variant	—
rs72823628	2:102,928,617	G/T	—	—
rs12712135	2:102,930,948	A/G	—	association
rs72823635	2:102,931,612	T/A	—	—
rs12996505	2:102,931,802	A/G	intron variant	—
rs950881	2:102,932,512	G/A	—	—
rs950880	2:102,932,562	C/A	regulatory region variant	—
rs72823641	2:102,936,159	T/A	intron variant	—
rs13001325	2:102,939,036	C/T	intron variant	—
rs142325623	2:102,940,953	G/A	intron variant	—
rs11679889	2:102,941,009	G/A	intron variant	—
rs10865050	2:102,941,311	G/A	intron variant	—
rs188596020	2:102,941,445	A/G	regulatory region variant	—
rs12053422	2:102,942,537	C/A	—	—
rs58933240	2:102,942,920	A/C	intron variant	—
rs12725988	2:102,943,386	G/A	—	—
rs76886731	2:102,945,416	A/T	intron variant	—
rs1420104	2:102,948,470	G/C	—	—
rs1420103	2:102,948,632	A/C	intron variant	—
rs12479210	2:102,949,161	C/A	—	—
rs17639215	2:102,953,444	G/A	regulatory region variant	—
rs3771180	2:102,953,617	G/A	—	—
rs59247511	2:102,954,190	T/C	regulatory region variant	—
rs13431828	2:102,954,653	C/T	regulatory region variant	—
rs142516188	2:102,954,743	G/T	—	conflicting classifications of pathogenicity
rs13408661	2:102,955,082	G/A	intron variant	—
rs572486682	2:102,955,369	C/A	—	uncertain significance
rs1677434137	2:102,955,376	T/C	—	likely benign
rs267598806	2:102,955,416	G/A	—	likely benign
rs202037442	2:102,955,425	C/T	—	uncertain significance
rs1041973	2:102,955,468	C/A	missense variant	—
rs887811769	2:102,955,480	C/G	—	uncertain significance
rs873022	2:102,955,683	G/T	intron variant	—
rs3771177	2:102,955,860	G/T	intron variant	—
rs754229436	2:102,956,583	G/A	—	uncertain significance
rs371207219	2:102,956,652	T/A	—	uncertain significance
rs140675864	2:102,956,654	T/C	—	benign
rs1466038000	2:102,956,688	A/G	—	uncertain significance
rs146214043	2:102,956,830	T/C	intron variant	—
rs114797672	2:102,957,136	C/T	—	benign
rs189627011	2:102,957,164	C/A	—	uncertain significance
rs34225180	2:102,957,204	G/A	—	benign
rs1285094341	2:102,957,207	G/A	—	uncertain significance
rs148867750	2:102,957,244	G/T	—	uncertain significance
rs201973706	2:102,957,262	C/T	—	uncertain significance
rs137964169	2:102,957,279	A/G	—	uncertain significance
rs201621624	2:102,957,281	G/T	—	likely benign
rs1165298976	2:102,957,286	A/G	—	uncertain significance
rs13029918	2:102,957,291	A/G	splice region variant	—
rs1420101	2:102,957,716	C/T	intron variant	—
rs751353110	2:102,958,696	T/G	—	uncertain significance
rs111970215	2:102,958,718	G/A	—	likely benign
rs75779188	2:102,959,504	G/A	—	likely benign
rs1457500224	2:102,959,634	A/G	—	uncertain significance
rs768009306	2:102,959,747	C/A	—	uncertain significance
rs35298562	2:102,959,778	C/T	—	benign
rs756672386	2:102,959,779	G/A	—	uncertain significance
rs373664545	2:102,959,796	A/T	—	uncertain significance
rs150347157	2:102,959,809	G/A	—	uncertain significance
rs3771175	2:102,960,210	T/A	intron variant	—
rs3821204	2:102,960,281	C/G	—	association
rs13001714	2:102,960,485	A/T	—	—
rs2160203	2:102,960,824	A/C	—	—
rs2529270690	2:102,964,409	T/G	—	uncertain significance
rs112595294	2:102,964,419	A/G	—	likely benign
rs369445462	2:102,964,489	T/C	—	likely benign
rs13017455	2:102,964,742	C/T	intron variant	—
rs17027006	2:102,965,332	G/T	—	—
rs12999542	2:102,965,392	A/C	intron variant	—
rs781184119	2:102,965,551	A/G	—	uncertain significance
rs765093237	2:102,965,579	C/G	—	uncertain significance
rs200737120	2:102,965,607	C/T	—	uncertain significance
rs138892317	2:102,965,608	G/A	—	likely benign
rs201555383	2:102,965,676	A/G	—	uncertain significance
rs1921622	2:102,966,067	G/A	intron variant	association
rs10208293	2:102,966,310	G/A	intron variant	—
rs10197862	2:102,966,549	A/G	intron variant	—
rs1861246	2:102,966,783	T/A	—	—
rs1861245	2:102,966,906	C/T	—	—
rs13424006	2:102,967,236	T/C	intron variant	—
rs6751967	2:102,967,413	T/C	—	association
rs1559609161	2:102,968,013	G/A	—	uncertain significance
rs780040866	2:102,968,038	G/A	—	uncertain significance
rs111942110	2:102,968,039	G/A	—	benign
rs4988957	2:102,968,075	T/A	missense variant	—
rs2529276223	2:102,968,101	T/C	—	uncertain significance
rs145303895	2:102,968,124	C/A	—	uncertain significance
rs151022743	2:102,968,159	G/C	—	likely benign
rs10204137	2:102,968,212	A/G	missense variant	—
rs113360315	2:102,968,243	G/A	—	likely benign
rs1573166470	2:102,968,267	T/C	—	likely benign
rs4988958	2:102,968,285	T/C	—	association
rs373778810	2:102,968,301	G/T	—	uncertain significance
rs764221654	2:102,968,335	C/T	—	uncertain significance
rs267598808	2:102,968,350	G/C	—	uncertain significance
rs112099741	2:102,968,707	C/T	downstream gene variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.