IL12RB2

interleukin 12 receptor subunit beta 2

Summary

The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]

Known Variants426 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3762315	1:67,772,011	A/G	upstream gene variant	—
rs3762316	1:67,772,023	A/G	upstream gene variant	—
rs11810249	1:67,772,810	C/G	—	—
rs192123185	1:67,775,050	C/G	intron variant	—
rs2066446	1:67,781,117	A/G	intron variant	—
rs2525811873	1:67,786,055	G/A	—	uncertain significance
rs1186384271	1:67,786,057	A/G	—	likely benign
rs2100587472	1:67,786,060	T/C	—	likely benign
rs142841707	1:67,786,061	A/G	—	conflicting classifications of pathogenicity
rs200712678	1:67,786,066	T/A	—	uncertain significance
rs2525812337	1:67,786,072	A/T	—	uncertain significance
rs770452160	1:67,786,074	G/A	—	uncertain significance
rs149711274	1:67,786,076	T/C	—	likely benign
rs375777947	1:67,786,085	T/C	—	conflicting classifications of pathogenicity
rs17129772	1:67,786,088	A/G	—	benign
rs2525812857	1:67,786,090	G/A	—	uncertain significance
rs200115195	1:67,786,101	C/T	—	conflicting classifications of pathogenicity
rs143667776	1:67,786,102	G/A	—	likely benign
rs751550346	1:67,786,103	T/G	—	uncertain significance
rs1209423630	1:67,786,111	G/A	—	likely benign
rs2525813644	1:67,786,126	A/G	—	uncertain significance
rs1292686164	1:67,786,128	G/T	—	uncertain significance
rs757519323	1:67,786,129	T/G	—	uncertain significance
rs200381625	1:67,786,139	C/T	—	likely benign
rs1475427173	1:67,787,265	G/T	—	likely benign
rs2525832407	1:67,787,273	A/G	—	likely benign
rs2307147	1:67,787,286	T/C	—	benign
rs746456201	1:67,787,288	C/T	—	uncertain significance
rs571957942	1:67,787,289	G/A	—	likely benign
rs149390309	1:67,787,301	C/T	—	benign
rs775778071	1:67,787,302	G/A	—	uncertain significance
rs1656542046	1:67,787,305	G/A	—	uncertain significance
rs17129777	1:67,787,322	C/G	—	benign
rs761834276	1:67,787,324	A/G	—	uncertain significance
rs201942133	1:67,787,326	G/A	—	uncertain significance
rs750730739	1:67,787,329	A/G	—	uncertain significance
rs374199491	1:67,787,338	G/T	—	uncertain significance
rs139104582	1:67,787,353	A/G	—	uncertain significance
rs964657546	1:67,787,393	A/G	—	uncertain significance
rs149868445	1:67,787,396	C/T	—	uncertain significance
rs140166116	1:67,787,401	C/T	—	uncertain significance
rs766661899	1:67,787,402	G/A	—	uncertain significance
rs142497181	1:67,787,405	A/G	—	uncertain significance
rs372100914	1:67,787,406	C/G	—	uncertain significance
rs142405829	1:67,787,416	C/T	—	likely benign
rs201325852	1:67,787,418	G/C	—	likely benign
rs200341672	1:67,787,420	A/G	—	uncertain significance
rs543310183	1:67,787,421	C/T	—	likely benign
rs1443513017	1:67,787,426	T/G	—	uncertain significance
rs201695193	1:67,787,428	G/T	—	uncertain significance
rs140508175	1:67,787,434	A/G	—	uncertain significance
rs918393269	1:67,787,441	A/G	—	uncertain significance
rs1329605499	1:67,787,455	C/T	—	uncertain significance
rs1281862412	1:67,787,461	C/T	—	uncertain significance
rs1259770827	1:67,787,466	T/C	—	likely benign
rs113388194	1:67,787,477	C/T	—	uncertain significance
rs1384659236	1:67,787,498	C/A	—	uncertain significance
rs2525838000	1:67,787,499	C/T	—	likely benign
rs772589936	1:67,787,500	T/C	—	likely benign
rs2525838398	1:67,787,522	G/C	—	uncertain significance
rs2525838769	1:67,787,538	A/G	—	likely benign
rs2100601890	1:67,787,546	T/C	—	uncertain significance
rs371858288	1:67,787,548	T/G	—	uncertain significance
rs917629107	1:67,787,554	G/A	—	uncertain significance
rs2525839133	1:67,787,562	C/A	—	likely benign
rs763813144	1:67,787,566	G/A	—	uncertain significance
rs761690932	1:67,787,577	G/A	—	uncertain significance
rs765844976	1:67,787,578	C/G	—	uncertain significance
rs1656591233	1:67,787,580	T/C	—	likely benign
rs1656591669	1:67,787,589	G/A	—	likely benign
rs5022165	1:67,788,352	A/G	—	—
rs17129789	1:67,790,598	T/C	intron variant	—
rs1275522856	1:67,792,404	T/C	—	likely benign
rs758668666	1:67,792,421	C/T	—	conflicting classifications of pathogenicity
rs2525899155	1:67,792,424	C/T	—	uncertain significance
rs368112959	1:67,792,426	G/C	—	uncertain significance
rs2100645775	1:67,792,439	A/G	—	uncertain significance
rs776798545	1:67,792,442	T/C	—	uncertain significance
rs746086306	1:67,792,444	T/G	—	uncertain significance
rs1395263520	1:67,792,451	T/C	—	uncertain significance
rs1327713550	1:67,792,455	G/A	—	likely benign
rs1440150111	1:67,792,465	C/T	—	uncertain significance
rs774040234	1:67,792,467	G/C	—	uncertain significance
rs201364780	1:67,792,471	A/T	—	uncertain significance
rs2525900293	1:67,792,477	G/C	—	uncertain significance
rs2525900335	1:67,792,479	C/T	—	likely benign
rs1204575816	1:67,792,484	C/T	—	uncertain significance
rs17129792	1:67,792,499	G/A	—	benign
rs374877909	1:67,792,509	C/T	—	likely benign
rs747390356	1:67,792,513	T/C	—	uncertain significance
rs200724371	1:67,792,515	C/T	—	likely benign
rs778269908	1:67,792,516	A/G	—	uncertain significance
rs1460665919	1:67,792,517	C/T	—	uncertain significance
rs2525901008	1:67,792,518	T/A	—	likely benign
rs757776580	1:67,792,521	G/C	—	uncertain significance
rs2525901147	1:67,792,525	A/G	—	uncertain significance
rs201483147	1:67,792,527	T/A	—	likely benign
rs1216895844	1:67,792,537	G/A	—	uncertain significance
rs760637182	1:67,792,543	G/T	—	likely benign
rs373462111	1:67,792,547	G/C	—	likely benign

Showing 100 of 426 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.