TCF4

transcription factor 4

Summary

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]

Known Variants870 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs555807846	18:52,889,763	A/G	—	benign
rs772957987	18:52,889,786	C/T	—	uncertain significance
rs2046007931	18:52,889,787	C/T	—	uncertain significance
rs1275093791	18:52,889,809	A/C	—	uncertain significance
rs886053938	18:52,889,848	A/G	—	uncertain significance
rs886053939	18:52,889,855	C/T	—	uncertain significance
rs886053941	18:52,889,883	A/G	—	uncertain significance
rs553489380	18:52,889,896	C/T	—	uncertain significance
rs75090842	18:52,889,897	G/A	—	benign
rs2046029800	18:52,889,927	T/C	—	uncertain significance
rs886053942	18:52,889,947	T/C	—	uncertain significance
rs1261085	18:52,889,967	C/T	—	benign
rs576298143	18:52,890,026	A/G	—	uncertain significance
rs2046058572	18:52,890,142	C/A	—	uncertain significance
rs1261084	18:52,890,160	G/A	—	benign
rs140368699	18:52,890,247	A/G	—	benign
rs937224140	18:52,890,359	C/G	—	uncertain significance
rs540894858	18:52,890,433	T/C	—	uncertain significance
rs935844555	18:52,890,477	C/T	—	uncertain significance
rs557952790	18:52,890,514	T/C	—	uncertain significance
rs1055588578	18:52,890,643	T/A	—	uncertain significance
rs562495030	18:52,890,717	G/C	—	benign
rs576157069	18:52,890,789	T/G	—	uncertain significance
rs61524834	18:52,890,829	C/G	—	benign
rs1272363	18:52,890,941	T/C	—	uncertain significance
rs867671676	18:52,890,946	T/C	—	uncertain significance
rs2046223434	18:52,891,020	C/A	—	uncertain significance
rs182171482	18:52,891,178	A/G	—	benign
rs186817281	18:52,891,328	C/T	—	benign
rs886053949	18:52,891,510	T/C	—	uncertain significance
rs1002989362	18:52,891,703	T/G	—	uncertain significance
rs571044249	18:52,891,737	A/T	—	uncertain significance
rs185402957	18:52,891,775	G/A	—	benign
rs550785276	18:52,891,862	C/G	—	likely benign
rs111302418	18:52,891,869	A/T	—	likely benign
rs1026588171	18:52,891,880	T/A	—	uncertain significance
rs563445247	18:52,891,917	G/T	—	uncertain significance
rs2046362357	18:52,891,928	T/C	—	uncertain significance
rs192850080	18:52,891,997	A/T	—	benign
rs767515404	18:52,892,057	T/G	—	uncertain significance
rs777322827	18:52,892,136	G/A	—	uncertain significance
rs886053950	18:52,892,150	G/A	—	uncertain significance
rs543261219	18:52,892,208	G/A	—	benign
rs756835904	18:52,892,252	G/C	—	uncertain significance
rs76640061	18:52,892,315	C/T	—	benign
rs1256019327	18:52,892,348	T/C	—	uncertain significance
rs150131510	18:52,892,409	G/A	—	uncertain significance
rs886053951	18:52,892,444	C/T	—	uncertain significance
rs188623567	18:52,892,578	T/C	—	benign
rs140356463	18:52,892,606	T/C	—	benign
rs886053952	18:52,892,701	A/G	—	uncertain significance
rs117874302	18:52,892,713	G/A	—	benign
rs747532079	18:52,892,760	C/T	—	uncertain significance
rs191924864	18:52,892,853	C/T	—	benign
rs577771150	18:52,892,912	T/C	—	uncertain significance
rs902372212	18:52,892,966	C/T	—	uncertain significance
rs1034717910	18:52,892,984	G/A	—	uncertain significance
rs201139617	18:52,893,265	C/A	—	benign
rs1429748165	18:52,893,283	A/G	—	uncertain significance
rs1385687901	18:52,893,307	C/T	—	uncertain significance
rs898174800	18:52,893,335	C/T	—	uncertain significance
rs567164792	18:52,893,352	G/T	—	uncertain significance
rs886053955	18:52,893,354	T/C	—	uncertain significance
rs117913194	18:52,893,363	C/T	—	benign
rs180957404	18:52,893,377	A/C	—	benign
rs753580131	18:52,893,411	C/T	—	uncertain significance
rs886053956	18:52,893,439	G/A	—	uncertain significance
rs187063308	18:52,893,467	C/G	—	benign
rs556687934	18:52,893,503	G/T	—	conflicting classifications of pathogenicity
rs1374369209	18:52,893,519	A/C	—	uncertain significance
rs1160844011	18:52,893,527	C/T	—	uncertain significance
rs190738599	18:52,893,690	A/G	—	benign
rs893759854	18:52,893,823	G/T	—	uncertain significance
rs1175824864	18:52,893,861	A/C	—	uncertain significance
rs541953475	18:52,894,065	G/A	—	likely benign
rs562137658	18:52,894,166	A/G	—	uncertain significance
rs1433430873	18:52,894,249	C/A	—	uncertain significance
rs143242430	18:52,894,357	C/T	—	benign
rs181670668	18:52,894,434	C/A	—	benign
rs1220541873	18:52,894,447	T/C	—	uncertain significance
rs199626082	18:52,894,478	C/A	—	uncertain significance
rs886053958	18:52,894,512	C/A	—	uncertain significance
rs781564405	18:52,894,540	A/G	—	uncertain significance
rs186018055	18:52,894,558	A/T	—	benign
rs544619058	18:52,894,704	G/A	—	uncertain significance
rs148367822	18:52,894,717	C/T	—	benign
rs1031033510	18:52,894,718	G/A	—	uncertain significance
rs1013538438	18:52,894,745	C/G	—	uncertain significance
rs541527476	18:52,894,814	A/C	—	conflicting classifications of pathogenicity
rs115039389	18:52,894,815	T/C	—	benign
rs886053959	18:52,894,910	T/C	—	uncertain significance
rs1181653084	18:52,894,971	C/T	—	uncertain significance
rs771124381	18:52,894,972	G/A	—	uncertain significance
rs775288331	18:52,894,994	C/A	—	uncertain significance
rs1171200199	18:52,895,000	G/C	—	likely benign
rs2046802180	18:52,895,088	G/A	—	likely pathogenic
rs899287073	18:52,895,128	C/T	—	uncertain significance
rs111947783	18:52,895,213	T/G	—	likely benign
rs182372608	18:52,895,244	C/T	—	benign
rs1599336148	18:52,895,256	T/C	—	uncertain significance

Showing 100 of 870 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.