IL18BP

interleukin 18 binding protein

Summary

The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

Known Variants129 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs149440923	11:71,708,649	A/G	upstream gene variant	—
rs5743659	11:71,709,878	G/A	regulatory region variant	—
rs147614257	11:71,710,812	G/A	regulatory region variant	—
rs2495818285	11:71,711,037	A/G	—	uncertain significance
rs199757051	11:71,711,056	C/G	—	uncertain significance
rs756889830	11:71,711,064	C/T	—	uncertain significance
rs2495818922	11:71,711,067	T/A	—	uncertain significance
rs372798220	11:71,711,071	G/A	—	likely benign
rs1222095976	11:71,711,074	A/G	—	uncertain significance
rs28395797	11:71,711,076	G/A	—	likely benign
rs371872703	11:71,711,378	G/C	—	uncertain significance
rs2495826177	11:71,711,379	T/C	—	uncertain significance
rs755777463	11:71,711,393	T/A	—	likely benign
rs2495826556	11:71,711,394	C/G	—	uncertain significance
rs2495826634	11:71,711,398	C/T	—	likely benign
rs768254158	11:71,711,399	C/T	—	uncertain significance
rs2495826727	11:71,711,404	C/A	—	uncertain significance
rs748178291	11:71,711,409	T/C	—	uncertain significance
rs773148218	11:71,711,419	G/A	—	likely benign
rs138685890	11:71,711,422	C/A	—	likely benign
rs2495827088	11:71,711,430	C/T	—	uncertain significance
rs762907176	11:71,711,432	C/A	—	uncertain significance
rs199747659	11:71,711,434	C/T	—	likely benign
rs189514886	11:71,711,435	G/A	—	likely benign
rs373119758	11:71,711,437	C/T	—	uncertain significance
rs376290357	11:71,711,438	G/A	—	conflicting classifications of pathogenicity
rs753580227	11:71,711,444	C/T	—	uncertain significance
rs758420916	11:71,711,464	T/A	—	likely benign
rs141137180	11:71,711,469	C/T	—	likely benign
rs202132601	11:71,711,470	G/A	—	likely benign
rs749581926	11:71,711,474	A/G	—	uncertain significance
rs2495828009	11:71,711,476	C/G	—	uncertain significance
rs762260762	11:71,711,489	A/G	—	uncertain significance
rs1046220138	11:71,711,506	C/T	—	uncertain significance
rs1565171711	11:71,711,514	A/T	—	uncertain significance
rs369922984	11:71,711,533	C/T	—	likely benign
rs777818979	11:71,711,536	A/C	—	likely benign
rs746988216	11:71,711,537	G/C	—	uncertain significance
rs377406153	11:71,711,544	C/T	—	uncertain significance
rs199903534	11:71,711,546	G/T	—	uncertain significance
rs749402435	11:71,711,556	A/C	—	uncertain significance
rs201587167	11:71,711,558	T/G	—	uncertain significance
rs982505029	11:71,711,559	G/T	—	uncertain significance
rs1330928908	11:71,711,562	C/T	—	uncertain significance
rs1280364218	11:71,711,573	G/T	—	uncertain significance
rs374208102	11:71,711,600	C/G	—	likely benign
rs2495830001	11:71,711,601	T/A	—	uncertain significance
rs201662094	11:71,711,614	C/T	—	likely benign
rs781688498	11:71,711,620	T/G	—	likely benign
rs1892919	11:71,712,175	G/A	—	benign
rs771495036	11:71,712,237	G/T	—	likely benign
rs2495849979	11:71,712,241	C/T	—	likely benign
rs776816823	11:71,712,243	C/T	—	uncertain significance
rs1378894874	11:71,712,250	G/A	—	uncertain significance
rs770102511	11:71,712,253	C/T	—	uncertain significance
rs763628352	11:71,712,264	T/C	—	uncertain significance
rs761605330	11:71,712,272	G/A	—	likely benign
rs367559597	11:71,712,280	G/C	—	uncertain significance
rs779893942	11:71,712,282	C/T	—	uncertain significance
rs5743672	11:71,712,283	G/A	—	uncertain significance
rs1181085657	11:71,712,284	C/A	—	uncertain significance
rs2495851638	11:71,712,290	C/G	—	uncertain significance
rs751149001	11:71,712,315	G/A	—	uncertain significance
rs746417228	11:71,712,331	T/C	—	uncertain significance
rs1955213128	11:71,712,336	C/G	—	uncertain significance
rs1955213351	11:71,712,339	C/G	—	uncertain significance
rs556802831	11:71,712,349	G/A	—	uncertain significance
rs111625248	11:71,712,361	G/A	—	uncertain significance
rs1955215868	11:71,712,368	C/G	—	uncertain significance
rs200348567	11:71,712,379	C/T	—	benign
rs751773744	11:71,712,380	G/A	—	likely benign
rs757344159	11:71,712,381	C/T	—	uncertain significance
rs2495857946	11:71,712,433	C/G	—	uncertain significance
rs376598754	11:71,712,443	C/G	—	uncertain significance
rs2495858622	11:71,712,445	C/T	—	uncertain significance
rs1214776197	11:71,712,452	C/T	—	uncertain significance
rs5743673	11:71,712,453	G/A	—	benign
rs373214332	11:71,712,455	G/A	—	uncertain significance
rs771647889	11:71,712,458	C/T	—	uncertain significance
rs533526600	11:71,712,459	G/A	—	conflicting classifications of pathogenicity
rs200152431	11:71,712,474	C/T	—	uncertain significance
rs1359180883	11:71,712,479	C/G	—	uncertain significance
rs369842055	11:71,712,494	G/A	—	uncertain significance
rs531211831	11:71,712,511	C/T	—	likely benign
rs766633441	11:71,712,523	C/T	—	uncertain significance
rs80015617	11:71,712,531	A/G	—	benign
rs755558870	11:71,712,535	C/A	—	uncertain significance
rs781039402	11:71,712,538	C/G	—	uncertain significance
rs1955233923	11:71,712,539	T/C	—	uncertain significance
rs1040709556	11:71,712,540	G/A	—	uncertain significance
rs779290296	11:71,712,547	C/T	—	likely benign
rs200994634	11:71,712,548	G/A	—	uncertain significance
rs1955234925	11:71,712,550	G/A	—	uncertain significance
rs777264901	11:71,712,564	T/C	—	uncertain significance
rs746719113	11:71,712,565	T/C	—	likely benign
rs1332642049	11:71,712,572	C/T	—	uncertain significance
rs200480287	11:71,712,573	G/A	—	uncertain significance
rs769639355	11:71,712,577	C/T	—	likely benign
rs370464613	11:71,712,578	G/A	—	uncertain significance
rs762624625	11:71,712,580	C/T	—	likely benign

Showing 100 of 129 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.