TGIF1 (TGFB induced factor homeobox 1)

Gene

• Entrez ID: 7050
• Gene name: TGFB induced factor homeobox 1
• Gene symbol: TGIF1
• Synonyms (NCBI Gene): HPE4, TGIF
• Chromosome: 18
• Chromosome location: 18p11.31
• 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 charact

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939693	A>G,T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs121909066	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909067	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909068	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121909069	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909070	C>G	Pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs202123354	G>A	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs886041249	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517835	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555650923	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555651112	->T	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004287	hsa-miR-21-5p	Western blot	19906824
MIRT641082	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT641081	hsa-miR-6507-5p	HITS-CLIP	23824327
MIRT641080	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT483883	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT641079	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT641078	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT641077	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT641076	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT641075	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT483875	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT117352	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT117353	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT117361	hsa-miR-5692a	PAR-CLIP	21572407
MIRT117356	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT533834	hsa-miR-5700	PAR-CLIP	21572407
MIRT117357	hsa-miR-3163	PAR-CLIP	21572407
MIRT553661	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT117359	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT117352	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT117353	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT117356	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT533834	hsa-miR-5700	PAR-CLIP	22012620
MIRT533833	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT533832	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT533831	hsa-miR-3908	PAR-CLIP	22012620
MIRT533830	hsa-miR-374b-3p	PAR-CLIP	22012620
MIRT080071	hsa-miR-4717-3p	PAR-CLIP	22012620
MIRT533829	hsa-miR-520f-5p	PAR-CLIP	22012620
MIRT117362	hsa-miR-1253	PAR-CLIP	22012620
MIRT533828	hsa-miR-6770-5p	PAR-CLIP	22012620
MIRT080073	hsa-miR-6716-5p	PAR-CLIP	22012620
MIRT080057	hsa-miR-597-3p	PAR-CLIP	22012620
MIRT080059	hsa-miR-2117	PAR-CLIP	22012620
MIRT533827	hsa-miR-4684-5p	PAR-CLIP	22012620
MIRT080069	hsa-miR-3692-3p	PAR-CLIP	22012620
MIRT483889	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT483888	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT483887	hsa-miR-5688	PAR-CLIP	23592263
MIRT483886	hsa-miR-7-1-3p	PAR-CLIP	23592263
MIRT483885	hsa-miR-7-2-3p	PAR-CLIP	23592263
MIRT483884	hsa-miR-9500	PAR-CLIP	23592263
MIRT483883	hsa-miR-3613-3p	PAR-CLIP	23592263
MIRT080071	hsa-miR-4717-3p	PAR-CLIP	23592263
MIRT483882	hsa-miR-3179	PAR-CLIP	23592263
MIRT117365	hsa-miR-3148	PAR-CLIP	23592263
MIRT483881	hsa-miR-3202	PAR-CLIP	23592263
MIRT483880	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT483878	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483879	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT483877	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT483876	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT483875	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT641082	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT641081	hsa-miR-6507-5p	HITS-CLIP	23824327
MIRT641080	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT483883	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT641079	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT641078	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT641077	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT641076	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT641075	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT483875	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT117352	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT117353	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT117361	hsa-miR-5692a	PAR-CLIP	21572407
MIRT117356	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT533834	hsa-miR-5700	PAR-CLIP	21572407
MIRT117357	hsa-miR-3163	PAR-CLIP	21572407
MIRT553661	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT117359	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT117352	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT117353	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT117356	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT533834	hsa-miR-5700	PAR-CLIP	22012620
MIRT533833	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT533832	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT533831	hsa-miR-3908	PAR-CLIP	22012620
MIRT533830	hsa-miR-374b-3p	PAR-CLIP	22012620
MIRT080071	hsa-miR-4717-3p	PAR-CLIP	22012620
MIRT533829	hsa-miR-520f-5p	PAR-CLIP	22012620
MIRT117362	hsa-miR-1253	PAR-CLIP	22012620
MIRT533828	hsa-miR-6770-5p	PAR-CLIP	22012620
MIRT080073	hsa-miR-6716-5p	PAR-CLIP	22012620
MIRT080057	hsa-miR-597-3p	PAR-CLIP	22012620
MIRT080059	hsa-miR-2117	PAR-CLIP	22012620
MIRT533827	hsa-miR-4684-5p	PAR-CLIP	22012620
MIRT080069	hsa-miR-3692-3p	PAR-CLIP	22012620
MIRT483889	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT483888	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT483887	hsa-miR-5688	PAR-CLIP	23592263
MIRT483886	hsa-miR-7-1-3p	PAR-CLIP	23592263
MIRT483885	hsa-miR-7-2-3p	PAR-CLIP	23592263
MIRT483884	hsa-miR-9500	PAR-CLIP	23592263
MIRT483883	hsa-miR-3613-3p	PAR-CLIP	23592263
MIRT080071	hsa-miR-4717-3p	PAR-CLIP	23592263
MIRT483882	hsa-miR-3179	PAR-CLIP	23592263
MIRT117365	hsa-miR-3148	PAR-CLIP	23592263
MIRT483881	hsa-miR-3202	PAR-CLIP	23592263
MIRT483880	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT483878	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483879	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT483877	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT483876	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT483875	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT755939	hsa-miR-299-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), Flow cytometry, RNA pull down assay	38067260
MIRT1421559	hsa-miR-1	CLIP-seq
MIRT1421560	hsa-miR-101	CLIP-seq
MIRT1421561	hsa-miR-1292	CLIP-seq
MIRT1421562	hsa-miR-139-5p	CLIP-seq
MIRT1421563	hsa-miR-144	CLIP-seq
MIRT1421564	hsa-miR-146a	CLIP-seq
MIRT1421565	hsa-miR-146b-5p	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421567	hsa-miR-19a	CLIP-seq
MIRT1421568	hsa-miR-19b	CLIP-seq
MIRT1421569	hsa-miR-2052	CLIP-seq
MIRT1421570	hsa-miR-206	CLIP-seq
MIRT1421571	hsa-miR-23a	CLIP-seq
MIRT1421572	hsa-miR-23b	CLIP-seq
MIRT1421573	hsa-miR-23c	CLIP-seq
MIRT1421574	hsa-miR-25	CLIP-seq
MIRT755939	hsa-miR-299-3p	CLIP-seq
MIRT1421575	hsa-miR-3145-3p	CLIP-seq
MIRT1421576	hsa-miR-3168	CLIP-seq
MIRT1421577	hsa-miR-32	CLIP-seq
MIRT1421578	hsa-miR-342-3p	CLIP-seq
MIRT1421579	hsa-miR-3617	CLIP-seq
MIRT1421580	hsa-miR-363	CLIP-seq
MIRT1421581	hsa-miR-3647-3p	CLIP-seq
MIRT1421582	hsa-miR-367	CLIP-seq
MIRT1421583	hsa-miR-3673	CLIP-seq
MIRT1421584	hsa-miR-3692	CLIP-seq
MIRT1421585	hsa-miR-3945	CLIP-seq
MIRT1421586	hsa-miR-412	CLIP-seq
MIRT1421587	hsa-miR-4251	CLIP-seq
MIRT1421588	hsa-miR-4253	CLIP-seq
MIRT1421589	hsa-miR-4264	CLIP-seq
MIRT1421590	hsa-miR-4265	CLIP-seq
MIRT1421591	hsa-miR-4296	CLIP-seq
MIRT1421592	hsa-miR-4297	CLIP-seq
MIRT1421593	hsa-miR-4303	CLIP-seq
MIRT1421594	hsa-miR-432	CLIP-seq
MIRT1421595	hsa-miR-4322	CLIP-seq
MIRT1421596	hsa-miR-4329	CLIP-seq
MIRT1421597	hsa-miR-4417	CLIP-seq
MIRT1421598	hsa-miR-4471	CLIP-seq
MIRT1421599	hsa-miR-4477a	CLIP-seq
MIRT1421600	hsa-miR-4491	CLIP-seq
MIRT1421601	hsa-miR-452	CLIP-seq
MIRT1421602	hsa-miR-4645-3p	CLIP-seq
MIRT1421603	hsa-miR-4657	CLIP-seq
MIRT1421604	hsa-miR-4676-3p	CLIP-seq
MIRT1421605	hsa-miR-4707-5p	CLIP-seq
MIRT1421606	hsa-miR-4709-3p	CLIP-seq
MIRT1421607	hsa-miR-4742-3p	CLIP-seq
MIRT1421608	hsa-miR-4760-3p	CLIP-seq
MIRT1421609	hsa-miR-4762-3p	CLIP-seq
MIRT1421610	hsa-miR-4766-3p	CLIP-seq
MIRT1421611	hsa-miR-4766-5p	CLIP-seq
MIRT1421612	hsa-miR-4793-5p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT1421614	hsa-miR-589	CLIP-seq
MIRT1421615	hsa-miR-613	CLIP-seq
MIRT1421616	hsa-miR-622	CLIP-seq
MIRT1421617	hsa-miR-630	CLIP-seq
MIRT1421618	hsa-miR-641	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq
MIRT1421620	hsa-miR-92a	CLIP-seq
MIRT1421621	hsa-miR-92b	CLIP-seq
MIRT1421622	hsa-miR-943	CLIP-seq
MIRT1421559	hsa-miR-1	CLIP-seq
MIRT1421561	hsa-miR-1292	CLIP-seq
MIRT1421563	hsa-miR-144	CLIP-seq
MIRT1421564	hsa-miR-146a	CLIP-seq
MIRT1421565	hsa-miR-146b-5p	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421569	hsa-miR-2052	CLIP-seq
MIRT1421570	hsa-miR-206	CLIP-seq
MIRT1421574	hsa-miR-25	CLIP-seq
MIRT755939	hsa-miR-299-3p	CLIP-seq
MIRT1421575	hsa-miR-3145-3p	CLIP-seq
MIRT1421577	hsa-miR-32	CLIP-seq
MIRT1421579	hsa-miR-3617	CLIP-seq
MIRT1421580	hsa-miR-363	CLIP-seq
MIRT1421582	hsa-miR-367	CLIP-seq
MIRT1421583	hsa-miR-3673	CLIP-seq
MIRT1421584	hsa-miR-3692	CLIP-seq
MIRT1421585	hsa-miR-3945	CLIP-seq
MIRT1421586	hsa-miR-412	CLIP-seq
MIRT1421587	hsa-miR-4251	CLIP-seq
MIRT1421588	hsa-miR-4253	CLIP-seq
MIRT1421589	hsa-miR-4264	CLIP-seq
MIRT1421590	hsa-miR-4265	CLIP-seq
MIRT1421591	hsa-miR-4296	CLIP-seq
MIRT1421592	hsa-miR-4297	CLIP-seq
MIRT1421593	hsa-miR-4303	CLIP-seq
MIRT1421595	hsa-miR-4322	CLIP-seq
MIRT1421596	hsa-miR-4329	CLIP-seq
MIRT1421597	hsa-miR-4417	CLIP-seq
MIRT1421598	hsa-miR-4471	CLIP-seq
MIRT1421599	hsa-miR-4477a	CLIP-seq
MIRT1421600	hsa-miR-4491	CLIP-seq
MIRT1421601	hsa-miR-452	CLIP-seq
MIRT1421602	hsa-miR-4645-3p	CLIP-seq
MIRT1421603	hsa-miR-4657	CLIP-seq
MIRT1421604	hsa-miR-4676-3p	CLIP-seq
MIRT1421605	hsa-miR-4707-5p	CLIP-seq
MIRT1421606	hsa-miR-4709-3p	CLIP-seq
MIRT1421607	hsa-miR-4742-3p	CLIP-seq
MIRT1421608	hsa-miR-4760-3p	CLIP-seq
MIRT1421609	hsa-miR-4762-3p	CLIP-seq
MIRT1421610	hsa-miR-4766-3p	CLIP-seq
MIRT1421611	hsa-miR-4766-5p	CLIP-seq
MIRT1421612	hsa-miR-4793-5p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT1421623	hsa-miR-495	CLIP-seq
MIRT1421614	hsa-miR-589	CLIP-seq
MIRT1421615	hsa-miR-613	CLIP-seq
MIRT1421616	hsa-miR-622	CLIP-seq
MIRT1421617	hsa-miR-630	CLIP-seq
MIRT1421618	hsa-miR-641	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq
MIRT1421620	hsa-miR-92a	CLIP-seq
MIRT1421621	hsa-miR-92b	CLIP-seq
MIRT1421622	hsa-miR-943	CLIP-seq
MIRT1421559	hsa-miR-1	CLIP-seq
MIRT1421563	hsa-miR-144	CLIP-seq
MIRT1421564	hsa-miR-146a	CLIP-seq
MIRT1421565	hsa-miR-146b-5p	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421567	hsa-miR-19a	CLIP-seq
MIRT1421568	hsa-miR-19b	CLIP-seq
MIRT1421569	hsa-miR-2052	CLIP-seq
MIRT1421570	hsa-miR-206	CLIP-seq
MIRT1421576	hsa-miR-3168	CLIP-seq
MIRT1421579	hsa-miR-3617	CLIP-seq
MIRT1421581	hsa-miR-3647-3p	CLIP-seq
MIRT1421583	hsa-miR-3673	CLIP-seq
MIRT1421584	hsa-miR-3692	CLIP-seq
MIRT1421585	hsa-miR-3945	CLIP-seq
MIRT1421587	hsa-miR-4251	CLIP-seq
MIRT1421588	hsa-miR-4253	CLIP-seq
MIRT1421589	hsa-miR-4264	CLIP-seq
MIRT1421593	hsa-miR-4303	CLIP-seq
MIRT1421594	hsa-miR-432	CLIP-seq
MIRT1421596	hsa-miR-4329	CLIP-seq
MIRT1421601	hsa-miR-452	CLIP-seq
MIRT1421604	hsa-miR-4676-3p	CLIP-seq
MIRT1421606	hsa-miR-4709-3p	CLIP-seq
MIRT1421607	hsa-miR-4742-3p	CLIP-seq
MIRT1421609	hsa-miR-4762-3p	CLIP-seq
MIRT1421610	hsa-miR-4766-3p	CLIP-seq
MIRT1421612	hsa-miR-4793-5p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT1421614	hsa-miR-589	CLIP-seq
MIRT1421615	hsa-miR-613	CLIP-seq
MIRT1421617	hsa-miR-630	CLIP-seq
MIRT1421618	hsa-miR-641	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq
MIRT1421622	hsa-miR-943	CLIP-seq
MIRT1421559	hsa-miR-1	CLIP-seq
MIRT1421561	hsa-miR-1292	CLIP-seq
MIRT1421563	hsa-miR-144	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421570	hsa-miR-206	CLIP-seq
MIRT1421571	hsa-miR-23a	CLIP-seq
MIRT1421572	hsa-miR-23b	CLIP-seq
MIRT1421573	hsa-miR-23c	CLIP-seq
MIRT1421574	hsa-miR-25	CLIP-seq
MIRT2348463	hsa-miR-28-3p	CLIP-seq
MIRT755939	hsa-miR-299-3p	CLIP-seq
MIRT1421575	hsa-miR-3145-3p	CLIP-seq
MIRT1421577	hsa-miR-32	CLIP-seq
MIRT1421578	hsa-miR-342-3p	CLIP-seq
MIRT1421579	hsa-miR-3617	CLIP-seq
MIRT1421580	hsa-miR-363	CLIP-seq
MIRT1421582	hsa-miR-367	CLIP-seq
MIRT1421583	hsa-miR-3673	CLIP-seq
MIRT1421584	hsa-miR-3692	CLIP-seq
MIRT2348464	hsa-miR-3910	CLIP-seq
MIRT1421585	hsa-miR-3945	CLIP-seq
MIRT1421586	hsa-miR-412	CLIP-seq
MIRT1421588	hsa-miR-4253	CLIP-seq
MIRT1421589	hsa-miR-4264	CLIP-seq
MIRT1421590	hsa-miR-4265	CLIP-seq
MIRT1421591	hsa-miR-4296	CLIP-seq
MIRT1421592	hsa-miR-4297	CLIP-seq
MIRT1421594	hsa-miR-432	CLIP-seq
MIRT1421595	hsa-miR-4322	CLIP-seq
MIRT1421597	hsa-miR-4417	CLIP-seq
MIRT1421598	hsa-miR-4471	CLIP-seq
MIRT1421600	hsa-miR-4491	CLIP-seq
MIRT1421602	hsa-miR-4645-3p	CLIP-seq
MIRT1421603	hsa-miR-4657	CLIP-seq
MIRT1421605	hsa-miR-4707-5p	CLIP-seq
MIRT1421606	hsa-miR-4709-3p	CLIP-seq
MIRT1421607	hsa-miR-4742-3p	CLIP-seq
MIRT1421611	hsa-miR-4766-5p	CLIP-seq
MIRT1421612	hsa-miR-4793-5p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT2348465	hsa-miR-548an	CLIP-seq
MIRT1421615	hsa-miR-613	CLIP-seq
MIRT1421616	hsa-miR-622	CLIP-seq
MIRT1421617	hsa-miR-630	CLIP-seq
MIRT1421618	hsa-miR-641	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq
MIRT1421620	hsa-miR-92a	CLIP-seq
MIRT1421621	hsa-miR-92b	CLIP-seq
MIRT1421622	hsa-miR-943	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421610	hsa-miR-4766-3p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC4	Activation	17610967

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10764806
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	10764806
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	10764806
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	10764806
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP	10764806
GO:0001843	Process	Neural tube closure	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8537382
GO:0005515	Function	Protein binding	IPI	16189514, 18511908, 21516116, 25416956, 25873176, 25910212, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010470	Process	Regulation of gastrulation	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0035881	Process	Amacrine cell differentiation	IEA
GO:0038092	Process	Nodal signaling pathway	IEA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048387	Process	Negative regulation of retinoic acid receptor signaling pathway	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0070410	Function	Co-SMAD binding	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:1902871	Process	Positive regulation of amacrine cell differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 602630
• HGNC: 11776
• e!Ensembl: ENSG00000177426

Protein

• UniProt ID: Q15583
• Protein name: Homeobox protein TGIF1 (5'-TG-3'-interacting factor 1)
• Protein function: Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. A
• PDB: 2LK2, 6FQP, 6FQQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05920	Homeobox_KN	182 → 221	Homeobox KN domain	Family

• Sequence:

  MVLAQSRVSAGVGSPHCSGSGGGGSDSFPWPASHPGNPQCSFSTAFLASPRLSRGTLAYL
  PPAPWSSLATPSALLGSSCAPPPPPARCPQPRALSPELGTKAGPRRPHRWELPRSPSQGA
  QGPAPRRRLLETMKGIVAASGSETEDEDSMDIPLDLSSSAGSGKRRRRGNLPKESVQILR
  DWLYEHRYNAYPSEQEKALLSQQTHLSTLQVCNWFINARRRLLPDMLRKDGKDPNQFTIS
  RRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKPSSPGSVLARPS
  VICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPEDTCKSGPSTNTQSG
  LFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLTA

• Sequence length: 401

Pathways

KEGG:

TGF-beta signaling pathway

Reactome:

Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Holoprosencephaly 4	Pathogenic; Likely pathogenic	rs121909067, rs121909070, rs2510043843, rs2510045920, rs2510032473, rs1555650923	RCV000007395 RCV000007398 RCV003333665 RCV003455849 RCV003881687 RCV000640538	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly sequence	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROFORM HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TGIF1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	CTD_human_DG	16705179		★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31109321, 31268604		★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	CTD_human_DG	16705179		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	24709693	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36614150	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	34391399	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34391399	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12593671	Associate	★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	BEFREE	28970529		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26278570		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	30808659		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	29050273		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29986714	Associate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	34440302	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	21940735, 22310223		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	12756169		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes insipidus	Pubtator	34440302	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36978091	Stimulate	★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26278570		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34878149	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32857719, 35569122	Stimulate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	33539429	Stimulate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	11479728, 11810641, 12522553, 12756169, 15221788, 15831469, 16475235, 16962354, 17001669, 17158784, 17998248, 20066439, 20104616, 21995818, 22310223, 22383895, 26278570, 27924807, 28640243, 29355528, 29391420, 29749689, 7485158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	LHGDN	11810641, 12522553, 16962354, 17825514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	16199538, 19431187, 20531442, 21940735, 21995818, 22310223, 23276570, 26278930, 34440302, 34884456, 7485158	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CTD_human_DG	16705179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY 4 (disorder)	Holoprosencephaly	UNIPROT_DG	10835638, 15221788		★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 4 (disorder)	Holoprosencephaly	CLINVAR_DG	11810641, 16962354		★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 4 (disorder)	Holoprosencephaly	GENOMICS_ENGLAND_DG	23476075		★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 4 (disorder)	Holoprosencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 5	Holoprosencephaly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	23877856	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	23877856		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	34440302	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	17001671		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26278570		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	30808659		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	19524896	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36753372	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25349154		★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	CTD_human_DG	16705179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	29703138		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29703138	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20849603	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31109321		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26104768, 31109321, 31268604		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	26278570		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth neoplasm	Pubtator	21237437	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	16475235		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	16475235		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	17048038		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23911286, 31268604		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	21940735		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	21940735	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26104768, 29050273		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	17440433		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	28970529		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31109321		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31109321, 31268604		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	18178536		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	17440433		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rachischisis	Rachischisis	BEFREE	21940735		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	16192631		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16192631		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	CTD_human_DG	16705179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	BEFREE	15223781, 17048038, 19060265, 24215395		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	21940735		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21237437, 24119525	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26464633, 32196592	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24577895	Associate	★☆☆☆☆ Found in Text Mining only