ZEB2

zinc finger E-box binding homeobox 2

Summary

The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]

Known Variants1,018 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12991836	2:145,141,541	A/T	—	—
rs138683759	2:145,144,500	C/A	—	benign
rs199966315	2:145,144,631	C/T	—	likely benign
rs558354594	2:145,145,026	A/G	—	likely benign
rs79710863	2:145,145,053	T/C	3 prime UTR variant	—
rs1057522759	2:145,147,012	A/C	—	likely benign
rs199951665	2:145,147,023	T/C	—	likely benign
rs2549101536	2:145,147,025	C/A	—	uncertain significance
rs1266457259	2:145,147,038	T/C	—	uncertain significance
rs1224398411	2:145,147,049	T/C	—	likely benign
rs750844030	2:145,147,053	C/T	—	likely benign
rs758670673	2:145,147,055	G/A	—	uncertain significance
rs1273805127	2:145,147,064	T/C	—	uncertain significance
rs1257742591	2:145,147,068	T/A	—	uncertain significance
rs1445900102	2:145,147,072	C/T	—	likely benign
rs2549101559	2:145,147,079	T/G	—	uncertain significance
rs1057522691	2:145,147,081	C/T	—	likely benign
rs2549101566	2:145,147,085	C/G	—	uncertain significance
rs752093966	2:145,147,088	T/G	—	uncertain significance
rs1703125939	2:145,147,089	C/G	—	uncertain significance
rs2549101577	2:145,147,093	C/G	—	uncertain significance
rs1703126280	2:145,147,099	G/A	—	likely benign
rs730881181	2:145,147,100	T/C	—	likely benign
rs748213160	2:145,147,106	C/A	—	likely benign
rs1573707562	2:145,147,111	C/T	—	uncertain significance
rs786203991	2:145,147,119	—	—	pathogenic
rs2549101601	2:145,147,124	C/T	—	uncertain significance
rs756424812	2:145,147,125	G/C	—	uncertain significance
rs1238900874	2:145,147,127	A/T	—	uncertain significance
rs1360979536	2:145,147,128	T/C	—	conflicting classifications of pathogenicity
rs727504223	2:145,147,130	—	—	pathogenic
rs568337755	2:145,147,136	G/T	—	uncertain significance
rs771782846	2:145,147,141	C/T	—	likely benign
rs1553960736	2:145,147,150	A/G	—	likely benign
rs1349953899	2:145,147,151	C/T	—	uncertain significance
rs2149872446	2:145,147,160	T/G	—	uncertain significance
rs907774736	2:145,147,168	T/C	—	likely benign
rs2149872450	2:145,147,171	C/G	—	uncertain significance
rs1573707668	2:145,147,174	T/C	—	likely benign
rs1280059432	2:145,147,183	G/A	—	likely benign
rs149526010	2:145,147,192	G/A	—	benign
rs1573707719	2:145,147,194	C/T	—	uncertain significance
rs1703128016	2:145,147,196	C/G	—	uncertain significance
rs776351453	2:145,147,197	C/A	—	likely benign
rs761202423	2:145,147,200	C/T	—	uncertain significance
rs1573707737	2:145,147,204	T/C	—	likely benign
rs1480636573	2:145,147,209	C/G	—	uncertain significance
rs2549101656	2:145,147,210	C/T	—	likely benign
rs1553960747	2:145,147,211	A/G	—	likely benign
rs772764893	2:145,147,212	G/T	—	conflicting classifications of pathogenicity
rs762628069	2:145,147,218	C/T	—	uncertain significance
rs374141392	2:145,147,219	G/A	—	likely benign
rs2549101670	2:145,147,228	C/G	—	uncertain significance
rs768007761	2:145,147,231	G/A	—	likely benign
rs1703128782	2:145,147,233	C/T	—	uncertain significance
rs1703128972	2:145,147,243	G/A	—	likely benign
rs2549101687	2:145,147,253	T/C	—	uncertain significance
rs730881205	2:145,147,254	C/T	—	uncertain significance
rs1060500655	2:145,147,255	G/C	—	uncertain significance
rs777859470	2:145,147,261	G/A	—	likely benign
rs1703129364	2:145,147,263	C/T	—	uncertain significance
rs2149872522	2:145,147,279	C/G	—	likely benign
rs1703129681	2:145,147,285	C/T	—	likely benign
rs1703129730	2:145,147,288	C/T	—	likely benign
rs2549101722	2:145,147,298	G/C	—	uncertain significance
rs749500600	2:145,147,300	G/A	—	likely benign
rs1332911302	2:145,147,306	C/G	—	uncertain significance
rs137852983	2:145,147,307	T/C	missense variant	pathogenic
rs780004720	2:145,147,310	G/T	—	uncertain significance
rs2149872541	2:145,147,311	G/A	—	uncertain significance
rs1703130056	2:145,147,313	G/A	—	uncertain significance
rs1703130143	2:145,147,317	T/C	—	uncertain significance
rs1573707880	2:145,147,321	C/G	—	uncertain significance
rs2549101815	2:145,147,322	T/C	—	uncertain significance
rs730881204	2:145,147,326	A/T	—	conflicting classifications of pathogenicity
rs1346483037	2:145,147,334	C/T	—	uncertain significance
rs1288140327	2:145,147,336	G/T	—	benign
rs1389508177	2:145,147,345	C/A	—	likely benign
rs1403782189	2:145,147,351	G/A	—	likely benign
rs1703132097	2:145,147,352	G/A	—	likely benign
rs1385679012	2:145,147,355	G/T	—	uncertain significance
rs1338018838	2:145,147,356	G/T	—	uncertain significance
rs1553960767	2:145,147,359	C/T	—	likely benign
rs1703132365	2:145,147,363	G/A	—	likely benign
rs1703132438	2:145,147,364	T/C	—	uncertain significance
rs1573707949	2:145,147,365	G/A	—	uncertain significance
rs918037210	2:145,147,368	C/G	—	likely benign
rs2549101857	2:145,147,374	C/T	—	likely benign
rs1573707981	2:145,147,377	G/T	—	conflicting classifications of pathogenicity
rs201630448	2:145,147,378	C/T	—	benign
rs1560602125	2:145,147,380	C/T	—	uncertain significance
rs1703133016	2:145,147,383	C/T	—	uncertain significance
rs730881203	2:145,147,386	G/C	—	uncertain significance
rs2549101876	2:145,147,392	C/T	—	uncertain significance
rs1553960775	2:145,147,396	T/G	—	uncertain significance
rs774763773	2:145,147,399	C/T	—	likely benign
rs2549101882	2:145,147,407	C/G	—	uncertain significance
rs1560602156	2:145,147,420	G/T	—	pathogenic
rs2149872616	2:145,147,421	C/T	—	pathogenic
rs886044396	2:145,147,422	A/T	missense variant	pathogenic

Showing 100 of 1,018 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.