TJP2

tight junction protein 2

Summary

This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Known Variants595 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7034179	9:71,746,838	C/T	regulatory region variant	—
rs11145461	9:71,766,119	C/A	—	—
rs11145465	9:71,766,593	C/A	5 prime UTR variant	—
rs374563251	9:71,766,687	G/A	—	uncertain significance
rs12340435	9:71,788,750	G/A	—	likely benign
rs113137067	9:71,788,907	G/A	—	benign
rs561839422	9:71,788,931	C/T	—	likely benign
rs7860124	9:71,788,949	C/A	—	benign
rs62567129	9:71,789,104	G/A	—	benign
rs13301644	9:71,789,156	C/T	—	benign
rs147729271	9:71,789,263	G/A	—	likely benign
rs199557806	9:71,789,273	G/T	—	likely benign
rs1021636166	9:71,789,284	C/T	—	uncertain significance
rs886044200	9:71,789,307	C/T	—	uncertain significance
rs373291069	9:71,789,311	G/C	—	uncertain significance
rs141127141	9:71,789,325	C/T	—	uncertain significance
rs1824901947	9:71,789,337	G/C	—	uncertain significance
rs377762494	9:71,789,343	C/T	—	benign
rs1824904655	9:71,789,355	G/C	—	likely benign
rs10870017	9:71,819,663	G/T	—	benign
rs73649624	9:71,819,772	T/C	—	benign
rs2498440	9:71,820,008	G/A	—	benign
rs117931408	9:71,820,048	G/A	—	likely benign
rs1563906183	9:71,820,073	A/C	—	uncertain significance
rs1563906272	9:71,820,105	A/T	—	uncertain significance
rs73450853	9:71,820,120	G/C	—	likely benign
rs151117327	9:71,820,123	A/G	—	uncertain significance
rs371868876	9:71,820,145	G/C	—	uncertain significance
rs4493966	9:71,820,148	A/G	—	benign
rs1240349749	9:71,820,156	C/A	—	uncertain significance
rs566121116	9:71,820,171	C/G	—	uncertain significance
rs896087137	9:71,820,197	A/G	—	uncertain significance
rs141726498	9:71,820,492	G/C	—	likely benign
rs114628921	9:71,820,535	A/G	—	likely benign
rs56207218	9:71,827,135	T/C	intron variant	—
rs111648575	9:71,827,163	T/C	—	likely benign
rs755087942	9:71,827,457	A/G	—	likely benign
rs200415824	9:71,827,458	A/T	—	conflicting classifications of pathogenicity
rs541933921	9:71,827,467	C/G	—	uncertain significance
rs145628692	9:71,827,482	C/G	—	uncertain significance
rs779704888	9:71,827,484	G/A	—	likely benign
rs530470555	9:71,827,488	T/C	—	uncertain significance
rs34883177	9:71,827,618	T/C	—	benign
rs144127357	9:71,829,595	C/T	intron variant	—
rs79422901	9:71,830,951	G/A	—	likely benign
rs3750549	9:71,831,026	C/A	—	benign
rs72709078	9:71,831,161	T/G	—	benign
rs1563919728	9:71,831,245	T/C	—	uncertain significance
rs1563919731	9:71,831,248	T/C	—	uncertain significance
rs1588080674	9:71,831,253	A/C	—	pathogenic
rs1588080680	9:71,831,254	G/A	—	pathogenic
rs1554659207	9:71,831,262	A/G	—	uncertain significance
rs769217430	9:71,831,282	G/A	—	uncertain significance
rs121918299	9:71,831,283	T/C	missense variant	pathogenic
rs773181762	9:71,831,287	C/T	—	likely benign
rs138241615	9:71,831,325	C/T	—	conflicting classifications of pathogenicity
rs1400260492	9:71,831,330	A/G	—	uncertain significance
rs1317511668	9:71,831,334	T/C	—	uncertain significance
rs200422718	9:71,831,345	G/A	—	uncertain significance
rs142847960	9:71,831,352	C/T	—	conflicting classifications of pathogenicity
rs780781603	9:71,831,353	G/A	—	uncertain significance
rs747848974	9:71,831,355	G/C	—	uncertain significance
rs2538413653	9:71,831,360	C/T	—	uncertain significance
rs1563919994	9:71,831,369	G/A	—	uncertain significance
rs1588081022	9:71,831,376	T/G	—	likely pathogenic
rs749237210	9:71,831,380	G/A	—	pathogenic
rs774438583	9:71,831,391	C/G	—	likely benign
rs190537310	9:71,831,395	C/T	—	likely benign
rs2498417	9:71,831,398	T/C	—	benign
rs191289272	9:71,832,942	C/T	—	likely benign
rs530810462	9:71,833,191	C/T	—	conflicting classifications of pathogenicity
rs1563921627	9:71,833,207	C/G	—	uncertain significance
rs1412902003	9:71,833,210	A/G	—	uncertain significance
rs2133251607	9:71,833,221	G/A	—	likely benign
rs72709079	9:71,833,230	G/A	—	benign
rs756808587	9:71,833,236	A/G	—	likely benign
rs727504668	9:71,833,255	A/T	—	uncertain significance
rs1428978435	9:71,833,266	C/T	—	uncertain significance
rs144396411	9:71,833,267	G/A	—	conflicting classifications of pathogenicity
rs7027812	9:71,833,287	G/T	—	benign
rs1486710959	9:71,833,291	G/A	—	likely benign
rs78266220	9:71,833,377	C/T	—	benign
rs148364966	9:71,833,386	C/T	—	likely benign
rs7853480	9:71,835,686	T/C	—	likely benign
rs41305541	9:71,835,775	G/A	—	benign
rs779815648	9:71,835,799	A/G	—	uncertain significance
rs2538445078	9:71,835,815	C/A	—	uncertain significance
rs1381055371	9:71,835,816	C/A	—	uncertain significance
rs753087955	9:71,835,817	C/T	—	likely benign
rs181450555	9:71,835,835	C/T	—	likely benign
rs1204229288	9:71,835,837	C/T	—	uncertain significance
rs41305539	9:71,835,842	C/A	—	benign
rs141496493	9:71,835,855	C/G	—	conflicting classifications of pathogenicity
rs2538445673	9:71,835,869	G/A	—	uncertain significance
rs886043413	9:71,835,870	A/T	—	uncertain significance
rs761129648	9:71,835,872	C/T	—	uncertain significance
rs764394462	9:71,835,873	G/A	—	uncertain significance
rs1011824757	9:71,835,888	T/C	—	uncertain significance
rs765961360	9:71,835,892	C/G	—	uncertain significance
rs751419583	9:71,835,900	A/G	—	uncertain significance

Showing 100 of 595 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.