TGIF1

TGFB induced factor homeobox 1

Summary

The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]

Known Variants127 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12457997	18:3,415,831	C/T	downstream gene variant	—
rs8087619	18:3,441,167	C/A	—	—
rs238544	18:3,443,119	C/G	—	—
rs238137	18:3,447,725	C/T	—	benign
rs113866405	18:3,447,825	C/G	—	likely benign
rs151472	18:3,447,871	C/T	—	benign
rs80144693	18:3,447,961	A/G	—	benign
rs182953695	18:3,448,073	G/C	—	benign
rs2238538	18:3,449,775	A/G	—	benign
rs142599245	18:3,449,777	G/C	—	benign
rs2238537	18:3,449,792	G/T	—	benign
rs238133	18:3,449,877	A/G	—	likely benign
rs7233448	18:3,450,204	A/T	—	benign
rs1057523111	18:3,450,450	A/G	—	likely benign
rs238132	18:3,450,455	C/A	—	benign
rs770843707	18:3,450,512	G/A	—	likely benign
rs373881756	18:3,450,513	C/T	—	likely benign
rs879781590	18:3,450,514	C/G	—	likely benign
rs746063172	18:3,450,517	G/A	—	likely benign
rs539858187	18:3,451,630	G/C	—	likely benign
rs238533	18:3,451,762	T/C	—	benign
rs1016147904	18:3,451,771	T/G	—	uncertain significance
rs11571508	18:3,451,896	G/A	—	benign
rs200056810	18:3,451,976	G/A	—	likely benign
rs148390122	18:3,452,002	T/C	—	conflicting classifications of pathogenicity
rs111896914	18:3,452,030	C/T	—	benign
rs144435321	18:3,452,031	G/A	—	benign
rs202123354	18:3,452,067	G/A	—	conflicting classifications of pathogenicity
rs2510031133	18:3,452,081	C/A	—	uncertain significance
rs114378990	18:3,452,135	C/T	—	likely benign
rs1387503723	18:3,452,145	T/C	—	likely benign
rs121909070	18:3,452,154	C/G	stop gained	pathogenic
rs557543525	18:3,452,223	T/C	—	benign
rs1002110854	18:3,452,226	T/C	—	likely benign
rs8098291	18:3,452,262	C/T	—	benign
rs199536188	18:3,452,291	G/A	—	likely benign
rs747833883	18:3,452,304	G/T	—	likely benign
rs764152878	18:3,452,332	G/A	—	uncertain significance
rs397515501	18:3,452,348	C/T	—	benign
rs116309641	18:3,452,564	T/C	—	benign
rs145607180	18:3,452,913	C/T	regulatory region variant	—
rs74669006	18:3,456,087	A/T	—	benign
rs1598910605	18:3,456,377	G/A	—	likely benign
rs148926036	18:3,456,383	G/A	—	benign
rs145725785	18:3,456,395	C/T	—	benign
rs121909066	18:3,456,418	C/G	missense variant	pathogenic
rs760906198	18:3,456,425	C/T	—	likely benign
rs1350856461	18:3,456,457	A/G	—	uncertain significance
rs138292737	18:3,456,458	C/T	—	conflicting classifications of pathogenicity
rs1226289428	18:3,456,459	C/T	—	likely benign
rs1568053676	18:3,456,460	T/A	—	uncertain significance
rs1064796876	18:3,456,474	G/A	—	uncertain significance
rs531797910	18:3,456,509	T/A	—	benign
rs121909067	18:3,456,523	C/G	missense variant	pathogenic
rs201903763	18:3,456,553	A/G	—	uncertain significance
rs142830828	18:3,456,560	A/G	—	likely benign
rs146127624	18:3,456,563	C/A	—	benign
rs2143407769	18:3,456,577	A/G	—	uncertain significance
rs2143407851	18:3,456,581	A/G	—	uncertain significance
rs73377620	18:3,457,094	G/T	—	benign
rs11661340	18:3,457,185	G/T	—	benign
rs451488	18:3,457,244	G/C	—	benign
rs114478561	18:3,457,257	T/G	—	likely benign
rs764633361	18:3,457,344	C/T	—	likely benign
rs372034652	18:3,457,350	G/A	—	likely benign
rs375583740	18:3,457,383	C/T	—	likely benign
rs1555650923	18:3,457,387	C/T	—	likely pathogenic
rs1057517835	18:3,457,388	G/A	missense variant	pathogenic
rs1315861554	18:3,457,390	C/T	—	uncertain significance
rs921452393	18:3,457,391	G/A	—	uncertain significance
rs2143416759	18:3,457,407	C/T	—	likely benign
rs369440102	18:3,457,408	A/G	—	uncertain significance
rs2510046072	18:3,457,410	G/A	—	uncertain significance
rs749817664	18:3,457,418	A/G	—	uncertain significance
rs2510046143	18:3,457,438	C/T	—	likely pathogenic
rs28939693	18:3,457,439	A/T	missense variant	likely benign
rs371759253	18:3,457,446	A/T	—	likely benign
rs775078421	18:3,457,456	C/T	—	uncertain significance
rs373874366	18:3,457,457	G/A	—	uncertain significance
rs757123252	18:3,457,478	C/T	—	uncertain significance
rs368355194	18:3,457,495	G/A	—	uncertain significance
rs199580307	18:3,457,496	T/C	—	benign
rs2510046334	18:3,457,499	T/C	—	uncertain significance
rs1259445305	18:3,457,515	C/G	—	uncertain significance
rs772528947	18:3,457,527	A/G	—	likely benign
rs375158323	18:3,457,528	G/A	—	uncertain significance
rs769260397	18:3,457,535	C/A	—	uncertain significance
rs2229337	18:3,457,539	A/G	—	likely benign
rs948759075	18:3,457,545	T/A	—	uncertain significance
rs121909068	18:3,457,570	A/G	missense variant	likely benign
rs1241114721	18:3,457,571	C/T	—	uncertain significance
rs2049399407	18:3,457,579	A/G	—	uncertain significance
rs2049399544	18:3,457,582	C/T	—	uncertain significance
rs1232226883	18:3,457,584	A/G	—	likely benign
rs121909069	18:3,457,604	C/T	missense variant	uncertain significance
rs4468717	18:3,457,606	C/T	—	likely benign
rs2229333	18:3,457,607	T/C	—	uncertain significance
rs2229334	18:3,457,608	G/A	—	benign
rs372737398	18:3,457,615	G/A	—	uncertain significance
rs768311015	18:3,457,625	G/A	—	uncertain significance

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.