CTLA4

cytotoxic T-lymphocyte associated protein 4

Summary

This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]

Known Variants195 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11571315	2:204,730,901	T/C	upstream gene variant	—
rs733618	2:204,730,944	T/C	upstream gene variant	—
rs4553808	2:204,731,005	A/T	—	—
rs11571316	2:204,731,089	G/A	upstream gene variant	—
rs16840252	2:204,731,519	C/T	upstream gene variant	benign
rs11571317	2:204,732,008	C/T	upstream gene variant	—
rs231774	2:204,732,223	T/A	—	benign
rs5742909	2:204,732,347	C/T	upstream gene variant	benign
rs1581571778	2:204,732,662	A/G	—	uncertain significance
rs767352102	2:204,732,669	G/T	—	uncertain significance
rs201778935	2:204,732,687	C/T	—	uncertain significance
rs138279736	2:204,732,688	G/T	—	uncertain significance
rs1688657524	2:204,732,695	G/A	—	likely benign
rs376591332	2:204,732,707	C/T	—	likely benign
rs231775	2:204,732,714	A/G	missense variant	risk factor
rs1484109503	2:204,732,715	C/T	—	uncertain significance
rs1323841915	2:204,732,721	C/T	—	uncertain significance
rs886041906	2:204,732,725	G/A	stop gained	pathogenic
rs1041117695	2:204,732,727	C/G	—	uncertain significance
rs1290173158	2:204,732,728	C/T	—	likely benign
rs1365829864	2:204,732,733	C/T	—	uncertain significance
rs16840275	2:204,732,740	G/C	—	benign
rs606231418	2:204,732,740	—	—	pathogenic
rs1159147215	2:204,732,746	T/C	—	likely benign
rs1361361278	2:204,732,749	T/C	—	likely benign
rs145950656	2:204,732,752	C/T	—	likely benign
rs1315404501	2:204,732,758	C/T	—	likely benign
rs369567630	2:204,732,759	C/T	—	uncertain significance
rs2105772910	2:204,732,762	G/A	—	uncertain significance
rs606231420	2:204,732,770	C/A	stop gained	pathogenic
rs606231421	2:204,732,775	G/T	—	pathogenic
rs231776	2:204,732,850	A/G	intron variant	benign
rs231777	2:204,733,588	T/A	—	—
rs231778	2:204,733,821	G/C	—	—
rs35219727	2:204,734,049	G/A	intron variant	—
rs231779	2:204,734,487	C/T	intron variant	—
rs1231531519	2:204,735,293	G/T	—	likely benign
rs200180357	2:204,735,302	A/T	—	likely benign
rs767100685	2:204,735,305	C/G	—	likely benign
rs773279316	2:204,735,306	T/C	—	uncertain significance
rs2469719131	2:204,735,308	G/A	—	likely pathogenic
rs760446668	2:204,735,316	C/T	—	likely benign
rs1553657378	2:204,735,317	G/A	—	conflicting classifications of pathogenicity
rs1581573640	2:204,735,326	C/G	—	conflicting classifications of pathogenicity
rs766143912	2:204,735,335	G/A	—	uncertain significance
rs2105775135	2:204,735,336	T/C	—	uncertain significance
rs776726776	2:204,735,340	G/A	—	likely benign
rs2469719171	2:204,735,342	C/A	—	uncertain significance
rs606231417	2:204,735,350	C/T	stop gained	pathogenic
rs1216841973	2:204,735,353	G/A	—	uncertain significance
rs1688712533	2:204,735,354	G/A	—	uncertain significance
rs765325921	2:204,735,358	C/T	—	likely benign
rs1553657387	2:204,735,359	G/C	—	pathogenic
rs1688712684	2:204,735,363	G/A	—	uncertain significance
rs373393185	2:204,735,370	G/A	—	likely benign
rs1581573671	2:204,735,372	G/C	—	uncertain significance
rs1581573676	2:204,735,376	G/A	—	likely benign
rs2469719218	2:204,735,379	T/C	—	likely benign
rs1688713089	2:204,735,387	C/T	—	uncertain significance
rs1688713262	2:204,735,393	A/G	—	uncertain significance
rs979522213	2:204,735,397	C/A	—	likely benign
rs557116456	2:204,735,404	G/A	—	uncertain significance
rs606231422	2:204,735,407	C/T	missense variant	pathogenic
rs1581573705	2:204,735,408	G/A	—	likely pathogenic
rs1347670398	2:204,735,410	G/T	—	uncertain significance
rs1688713996	2:204,735,412	G/C	—	likely benign
rs1206369281	2:204,735,413	A/C	—	uncertain significance
rs199943943	2:204,735,415	A/G	—	likely benign
rs866679318	2:204,735,418	G/C	—	likely benign
rs1688714312	2:204,735,422	C/T	—	pathogenic
rs1196646336	2:204,735,423	G/A	—	uncertain significance
rs1688714490	2:204,735,425	C/T	—	pathogenic
rs2469719303	2:204,735,427	G/C	—	uncertain significance
rs1378866958	2:204,735,428	G/A	—	uncertain significance
rs1688714703	2:204,735,437	C/T	—	pathogenic
rs139154557	2:204,735,445	T/C	—	likely benign
rs1422926559	2:204,735,449	G/A	—	uncertain significance
rs2105775283	2:204,735,453	G/A	—	uncertain significance
rs1688715115	2:204,735,454	T/G	—	uncertain significance
rs376038796	2:204,735,456	C/G	—	uncertain significance
rs771695723	2:204,735,457	G/A	—	likely benign
rs1688715376	2:204,735,462	C/A	—	uncertain significance
rs1403336336	2:204,735,464	T/C	—	uncertain significance
rs1559591751	2:204,735,465	A/G	—	uncertain significance
rs370443546	2:204,735,467	A/G	—	uncertain significance
rs1065442	2:204,735,471	T/G	—	uncertain significance
rs2469719409	2:204,735,487	C/T	—	likely benign
rs2105775364	2:204,735,494	G/C	—	uncertain significance
rs1233838269	2:204,735,499	T/C	—	likely benign
rs896360225	2:204,735,503	A/G	—	uncertain significance
rs2469719437	2:204,735,507	G/A	—	uncertain significance
rs1291592984	2:204,735,508	C/T	—	likely benign
rs759232662	2:204,735,510	C/T	—	uncertain significance
rs770065318	2:204,735,511	G/A	—	uncertain significance
rs949253264	2:204,735,514	C/T	—	likely benign
rs2105775407	2:204,735,524	G/A	—	uncertain significance
rs144988077	2:204,735,525	G/A	—	conflicting classifications of pathogenicity
rs2469719492	2:204,735,543	C/T	—	uncertain significance
rs2105775415	2:204,735,544	T/C	—	likely benign
rs2469719496	2:204,735,546	T/A	—	uncertain significance

Showing 100 of 195 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.