Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6925
Gene name	Transcription factor 4
Gene symbol	TCF4
Synonyms (NCBI Gene)	CDG2TE2-2FCD2FECD3ITF-2ITF2PTHSSEF-2SEF2SEF2-1SEF2-1ASEF2-1BSEF2-1DTCF-4bHLHb19
Chromosome	18
Chromosome location	18q21.2
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 expresse

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121909120	G>A,T	Likely-pathogenic, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121909121	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121909122	G>A	Pathogenic	Stop gained, coding sequence variant
rs121909123	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs139876825	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs370160994	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs373434281	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant
rs398123560	C>T	Pathogenic	Coding sequence variant, stop gained
rs398123561	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs587784458	C>T	Pathogenic	Splice donor variant
rs587784459	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs587784460	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587784462	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs587784463	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587784464	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs587784465	C>A,T	Pathogenic	Splice donor variant
rs587784466	C>G	Pathogenic	Splice acceptor variant
rs587784468	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587784469	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant
rs587784470	T>C	Pathogenic	Splice acceptor variant
rs727504174	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504175	G>A	Pathogenic	Stop gained, coding sequence variant
rs727505396	G>A	Pathogenic	Stop gained, coding sequence variant
rs786200992	->T	Pathogenic	Frameshift variant, coding sequence variant
rs796053418	G>A	Pathogenic	Stop gained, coding sequence variant
rs796053424	->CT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs796053425	TCC>A	Pathogenic	Frameshift variant, coding sequence variant
rs796053427	ACACTCTGCCCCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs796053428	->GGCC	Pathogenic	Frameshift variant, coding sequence variant
rs796053429	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797045003	G>A	Pathogenic	Missense variant, coding sequence variant
rs797045072	C>A,T	Pathogenic	Missense variant, splice donor variant, coding sequence variant
rs797046033	G>A	Pathogenic	Stop gained, coding sequence variant
rs797046034	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs797046035	->G	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs797046036	->AC	Pathogenic	Splice donor variant
rs863223404	T>CC	Pathogenic	Frameshift variant, coding sequence variant
rs863224934	T>C	Likely-pathogenic	Missense variant, coding sequence variant, splice acceptor variant
rs878853149	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs886041248	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041578	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041910	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518339	G>C	Pathogenic	Stop gained, coding sequence variant
rs1057518848	->ATTG	Pathogenic	Frameshift variant, coding sequence variant
rs1057518864	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057519592	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057521070	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057524821	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795443	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796134	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796538	G>C	Pathogenic	Stop gained, coding sequence variant
rs1064796853	G>A	Pathogenic	Stop gained, coding sequence variant
rs1131691653	CCGAAGCA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1131691735	G>A	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1135401807	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555708227	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555710069	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555710127	AGGAGCTTGGTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555710171	GTCTGGGGCTTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555710416	GCCGA>AG	Likely-pathogenic	Inframe indel, coding sequence variant
rs1555710523	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555710726	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555710757	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555710866	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555711245	T>C	Pathogenic	Splice acceptor variant
rs1555717982	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555718063	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555718354	->GACTACTG	Likely-pathogenic	Stop gained, coding sequence variant
rs1555718426	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555721921	A>C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs1555722023	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555763998	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555764170	CC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555764460	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555764839	A>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555775233	->GA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555778204	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555782724	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1555789019	ACCCAT>GGGAC	Pathogenic	Splice donor variant, coding sequence variant
rs1555789026	ATTATACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555796785	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555797231	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555797248	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555917396	C>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1568303086	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568303352	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568331766	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568471940	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568490874	T>C	Pathogenic	Intron variant
rs1568509890	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568523662	CCCGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568620706	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568620774	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1568622225	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569138023	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1599375711	CGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1599377405	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599570613	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1600275237	CACAACCTTGTAAATACACTAAAACACTTGAATTGTACACCTGAAATGGGCTCATCGTATGTTAAGTGAATTATATCTCAATAAAGCTGATTTTTTAAAAAACAGCAACAATAGTATCTATATCTGAAATTCTAACTCTATATGATAACTATAGAGTCTATAAATTTCATCACTTACCATGAGTGAATGTCTGTTGGCTGAAAGAAGGCCGGTTCCATACCCTGAGCCCAGACCACCCATGGCTCCATTATGAGA	Likely-pathogenic	Coding sequence variant, splice donor variant, splice acceptor variant, intron variant
rs1600285757	G>C	Pathogenic	Coding sequence variant, stop gained
rs1600290109	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600404016	->CA	Pathogenic	Coding sequence variant, frameshift variant
rs1600404795	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600504872	G>T	Pathogenic	Coding sequence variant, stop gained
rs1600578193	T>C	Pathogenic	Splice acceptor variant
rs1600861021	TGACTCACCCATT>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1600861681	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600865932	A>T	Pathogenic	Coding sequence variant, stop gained
rs1600866162	T>C	Pathogenic	Splice acceptor variant
rs1601258465	TAGCCTGGCG>GTCCCTATTGTAGTCGGC	Pathogenic	Coding sequence variant, inframe indel, 5 prime UTR variant, stop gained
rs1601260508	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, splice acceptor variant
rs1603282307	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603624808	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005846	hsa-miR-204-5p	Luciferase reporter assayMicroarrayqRT-PCR	21282569
MIRT020336	hsa-miR-130b-3p	Sequencing	20371350
MIRT031229	hsa-miR-19b-3p	Sequencing	20371350
MIRT051694	hsa-let-7e-5p	CLASH	23622248
MIRT053443	hsa-miR-203a-3p	Microarray	23807165
MIRT437782	hsa-miR-452-5p	A172	23695168
MIRT438192	hsa-miR-126-3p	Luciferase reporter assay	24190507
MIRT438192	hsa-miR-126-3p	Luciferase reporter assay	24190507
MIRT438192	hsa-miR-126-3p	Luciferase reporter assay	24190507
MIRT438192	hsa-miR-126-3p	Luciferase reporter assay	24190507
MIRT439479	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439480	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT439478	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439479	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439480	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT726345	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726344	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726343	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726342	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439478	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT053443	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	26493444
MIRT053443	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	26493444
MIRT439479	hsa-miR-106b-5p	Flow cytometryLuciferase reporter assayqRT-PCRWestern blotting	34278441
MIRT734697	hsa-miR-301b-3p	qRT-PCR	31484947
MIRT438192	hsa-miR-126-3p	RNA-seq	33398982
MIRT735872	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceqRT-PCRin vivo gain/loss-of-function experiments	32641995
MIRT735872	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceChIP-seqqRT-PCRIn situ hybridization	32641995
MIRT736691	hsa-miR-26b-5p	Luciferase reporter assayWestern blottingImmunofluorescence	32579400
MIRT755895	hsa-miR-369-3p	Luciferase reporter assayWestern blottingqRT-PCR	37969834
MIRT439480	hsa-miR-155-5p	Luciferase reporter assayWestern blottingqRT-PCRImmunofluorescenceIn situ hybridization	36069070
MIRT1416333	hsa-miR-105	CLIP-seq
MIRT1416334	hsa-miR-147	CLIP-seq
MIRT1416335	hsa-miR-219-2-3p	CLIP-seq
MIRT1416336	hsa-miR-323-3p	CLIP-seq
MIRT1416337	hsa-miR-3607-3p	CLIP-seq
MIRT1416338	hsa-miR-3911	CLIP-seq
MIRT1416339	hsa-miR-4474-3p	CLIP-seq
MIRT1416340	hsa-miR-4480	CLIP-seq
MIRT1416341	hsa-miR-4687-3p	CLIP-seq
MIRT1416342	hsa-miR-4699-3p	CLIP-seq
MIRT1416343	hsa-miR-4719	CLIP-seq
MIRT1416344	hsa-miR-513b	CLIP-seq
MIRT1416345	hsa-miR-644	CLIP-seq
MIRT1416346	hsa-miR-124	CLIP-seq
MIRT1416347	hsa-miR-128	CLIP-seq
MIRT1416348	hsa-miR-129-5p	CLIP-seq
MIRT1416349	hsa-miR-132	CLIP-seq
MIRT1416350	hsa-miR-2052	CLIP-seq
MIRT1416351	hsa-miR-2053	CLIP-seq
MIRT1416352	hsa-miR-212	CLIP-seq
MIRT1416353	hsa-miR-2276	CLIP-seq
MIRT1416354	hsa-miR-297	CLIP-seq
MIRT1416355	hsa-miR-298	CLIP-seq
MIRT1416356	hsa-miR-3143	CLIP-seq
MIRT1416357	hsa-miR-3149	CLIP-seq
MIRT1416358	hsa-miR-3202	CLIP-seq
MIRT1416359	hsa-miR-3647-3p	CLIP-seq
MIRT1416360	hsa-miR-4307	CLIP-seq
MIRT1416361	hsa-miR-4533	CLIP-seq
MIRT1416362	hsa-miR-455-3p	CLIP-seq
MIRT1416363	hsa-miR-4659a-3p	CLIP-seq
MIRT1416364	hsa-miR-4659b-3p	CLIP-seq
MIRT1416365	hsa-miR-4668-3p	CLIP-seq
MIRT1416366	hsa-miR-4686	CLIP-seq
MIRT1416367	hsa-miR-4698	CLIP-seq
MIRT1416368	hsa-miR-4703-3p	CLIP-seq
MIRT1416369	hsa-miR-4731-3p	CLIP-seq
MIRT1416370	hsa-miR-4772-3p	CLIP-seq
MIRT1416371	hsa-miR-4801	CLIP-seq
MIRT1416372	hsa-miR-506	CLIP-seq
MIRT1416373	hsa-miR-543	CLIP-seq
MIRT1416374	hsa-miR-567	CLIP-seq
MIRT1416375	hsa-miR-607	CLIP-seq
MIRT1416376	hsa-miR-767-5p	CLIP-seq
MIRT2124868	hsa-miR-1305	CLIP-seq
MIRT2124869	hsa-miR-186	CLIP-seq
MIRT2124870	hsa-miR-25	CLIP-seq
MIRT2124871	hsa-miR-3133	CLIP-seq
MIRT2124872	hsa-miR-32	CLIP-seq
MIRT2124873	hsa-miR-363	CLIP-seq
MIRT2124874	hsa-miR-367	CLIP-seq
MIRT2124875	hsa-miR-4328	CLIP-seq
MIRT1416368	hsa-miR-4703-3p	CLIP-seq
MIRT2124876	hsa-miR-4768-3p	CLIP-seq
MIRT2124877	hsa-miR-513a-3p	CLIP-seq
MIRT2124878	hsa-miR-593	CLIP-seq
MIRT2124879	hsa-miR-92a	CLIP-seq
MIRT2124880	hsa-miR-92b	CLIP-seq
MIRT2347279	hsa-miR-1252	CLIP-seq
MIRT1416348	hsa-miR-129-5p	CLIP-seq
MIRT2347280	hsa-miR-1299	CLIP-seq
MIRT2347281	hsa-miR-3677-5p	CLIP-seq
MIRT2347282	hsa-miR-4276	CLIP-seq
MIRT2347283	hsa-miR-431	CLIP-seq
MIRT2347284	hsa-miR-4715-5p	CLIP-seq
MIRT2347285	hsa-miR-571	CLIP-seq
MIRT2347286	hsa-miR-614	CLIP-seq
MIRT2347287	hsa-miR-630	CLIP-seq
MIRT2347288	hsa-miR-646	CLIP-seq
MIRT2347289	hsa-miR-671-5p	CLIP-seq
MIRT2347290	hsa-miR-875-3p	CLIP-seq
MIRT2347281	hsa-miR-3677-5p	CLIP-seq
MIRT2347282	hsa-miR-4276	CLIP-seq
MIRT2347288	hsa-miR-646	CLIP-seq
MIRT2640092	hsa-miR-106a	CLIP-seq
MIRT2640093	hsa-miR-106b	CLIP-seq
MIRT2640094	hsa-miR-1227	CLIP-seq
MIRT2640095	hsa-miR-1246	CLIP-seq
MIRT2640096	hsa-miR-1256	CLIP-seq
MIRT2640097	hsa-miR-1272	CLIP-seq
MIRT2640098	hsa-miR-1284	CLIP-seq
MIRT2640099	hsa-miR-1290	CLIP-seq
MIRT1416348	hsa-miR-129-5p	CLIP-seq
MIRT2640100	hsa-miR-1301	CLIP-seq
MIRT2640101	hsa-miR-130a	CLIP-seq
MIRT2640102	hsa-miR-130b	CLIP-seq
MIRT739369	hsa-miR-137	CLIP-seq
MIRT2640103	hsa-miR-140-3p	CLIP-seq
MIRT2640104	hsa-miR-141	CLIP-seq
MIRT2640105	hsa-miR-142-5p	CLIP-seq
MIRT2640106	hsa-miR-148a	CLIP-seq
MIRT2640107	hsa-miR-148b	CLIP-seq
MIRT2640108	hsa-miR-152	CLIP-seq
MIRT2640109	hsa-miR-155	CLIP-seq
MIRT2640110	hsa-miR-17	CLIP-seq
MIRT2640111	hsa-miR-183	CLIP-seq
MIRT2640112	hsa-miR-200a	CLIP-seq
MIRT2640113	hsa-miR-200b	CLIP-seq
MIRT2640114	hsa-miR-200c	CLIP-seq
MIRT2640115	hsa-miR-20a	CLIP-seq
MIRT2640116	hsa-miR-20b	CLIP-seq
MIRT2640117	hsa-miR-216b	CLIP-seq
MIRT2640118	hsa-miR-217	CLIP-seq
MIRT739367	hsa-miR-221	CLIP-seq
MIRT739368	hsa-miR-222	CLIP-seq
MIRT2640119	hsa-miR-28-5p	CLIP-seq
MIRT2640120	hsa-miR-299-3p	CLIP-seq
MIRT2640121	hsa-miR-301a	CLIP-seq
MIRT2640122	hsa-miR-301b	CLIP-seq
MIRT2640123	hsa-miR-302f	CLIP-seq
MIRT2640124	hsa-miR-3117-3p	CLIP-seq
MIRT2640125	hsa-miR-3139	CLIP-seq
MIRT2640126	hsa-miR-3140-3p	CLIP-seq
MIRT2640127	hsa-miR-3148	CLIP-seq
MIRT2640128	hsa-miR-3153	CLIP-seq
MIRT2640129	hsa-miR-3163	CLIP-seq
MIRT2640130	hsa-miR-3165	CLIP-seq
MIRT2640131	hsa-miR-3167	CLIP-seq
MIRT2640132	hsa-miR-3169	CLIP-seq
MIRT2640133	hsa-miR-3173-3p	CLIP-seq
MIRT2640134	hsa-miR-3200-5p	CLIP-seq
MIRT2640135	hsa-miR-330-3p	CLIP-seq
MIRT2640136	hsa-miR-340	CLIP-seq
MIRT2640137	hsa-miR-3545-3p	CLIP-seq
MIRT2640138	hsa-miR-3545-5p	CLIP-seq
MIRT2640139	hsa-miR-3591-5p	CLIP-seq
MIRT2640140	hsa-miR-3613-3p	CLIP-seq
MIRT2640141	hsa-miR-3658	CLIP-seq
MIRT2640142	hsa-miR-3666	CLIP-seq
MIRT2640143	hsa-miR-3672	CLIP-seq
MIRT2640144	hsa-miR-3682-3p	CLIP-seq
MIRT2640145	hsa-miR-3684	CLIP-seq
MIRT2640146	hsa-miR-3688-5p	CLIP-seq
MIRT2640147	hsa-miR-3689d	CLIP-seq
MIRT755895	hsa-miR-369-3p	CLIP-seq
MIRT2640148	hsa-miR-371b-5p	CLIP-seq
MIRT2640149	hsa-miR-374a	CLIP-seq
MIRT2640150	hsa-miR-374b	CLIP-seq
MIRT2640151	hsa-miR-374c	CLIP-seq
MIRT2640152	hsa-miR-3908	CLIP-seq
MIRT2640153	hsa-miR-3919	CLIP-seq
MIRT2640154	hsa-miR-3942-3p	CLIP-seq
MIRT2640155	hsa-miR-412	CLIP-seq
MIRT2640156	hsa-miR-4255	CLIP-seq
MIRT2640157	hsa-miR-4256	CLIP-seq
MIRT2640158	hsa-miR-4261	CLIP-seq
MIRT2640159	hsa-miR-4282	CLIP-seq
MIRT2640160	hsa-miR-429	CLIP-seq
MIRT2640161	hsa-miR-4295	CLIP-seq
MIRT2640162	hsa-miR-4326	CLIP-seq
MIRT2124875	hsa-miR-4328	CLIP-seq
MIRT2640163	hsa-miR-4418	CLIP-seq
MIRT2640164	hsa-miR-4428	CLIP-seq
MIRT2640165	hsa-miR-4434	CLIP-seq
MIRT2640166	hsa-miR-4435	CLIP-seq
MIRT2640167	hsa-miR-4453	CLIP-seq
MIRT2640168	hsa-miR-4470	CLIP-seq
MIRT2640169	hsa-miR-4477b	CLIP-seq
MIRT2640170	hsa-miR-448	CLIP-seq
MIRT2640171	hsa-miR-4491	CLIP-seq
MIRT2640172	hsa-miR-4494	CLIP-seq
MIRT2640173	hsa-miR-4502	CLIP-seq
MIRT2640174	hsa-miR-4516	CLIP-seq
MIRT2640175	hsa-miR-4528	CLIP-seq
MIRT2640176	hsa-miR-4535	CLIP-seq
MIRT2640177	hsa-miR-4538	CLIP-seq
MIRT2640178	hsa-miR-454	CLIP-seq
MIRT2640179	hsa-miR-4642	CLIP-seq
MIRT2640180	hsa-miR-4645-3p	CLIP-seq
MIRT2640181	hsa-miR-4657	CLIP-seq
MIRT2640182	hsa-miR-4660	CLIP-seq
MIRT2640183	hsa-miR-4662a-3p	CLIP-seq
MIRT2640184	hsa-miR-4666-3p	CLIP-seq
MIRT2640185	hsa-miR-4667-3p	CLIP-seq
MIRT2640186	hsa-miR-4668-5p	CLIP-seq
MIRT2640187	hsa-miR-4672	CLIP-seq
MIRT1416342	hsa-miR-4699-3p	CLIP-seq
MIRT2640188	hsa-miR-4705	CLIP-seq
MIRT739370	hsa-miR-4729	CLIP-seq
MIRT2640189	hsa-miR-4759	CLIP-seq
MIRT2124876	hsa-miR-4768-3p	CLIP-seq
MIRT2640190	hsa-miR-4773	CLIP-seq
MIRT2640191	hsa-miR-4776-5p	CLIP-seq
MIRT2640192	hsa-miR-4777-5p	CLIP-seq
MIRT2640193	hsa-miR-4778-5p	CLIP-seq
MIRT2640194	hsa-miR-4785	CLIP-seq
MIRT2640195	hsa-miR-4789-3p	CLIP-seq
MIRT2640196	hsa-miR-4789-5p	CLIP-seq
MIRT2640197	hsa-miR-4793-3p	CLIP-seq
MIRT2640198	hsa-miR-4795-5p	CLIP-seq
MIRT2640199	hsa-miR-4802-3p	CLIP-seq
MIRT2640200	hsa-miR-485-3p	CLIP-seq
MIRT2640201	hsa-miR-499a-5p	CLIP-seq
MIRT2640202	hsa-miR-502-5p	CLIP-seq
MIRT2640203	hsa-miR-5047	CLIP-seq
MIRT2640204	hsa-miR-509-3-5p	CLIP-seq
MIRT2640205	hsa-miR-509-5p	CLIP-seq
MIRT2640206	hsa-miR-510	CLIP-seq
MIRT2640207	hsa-miR-511	CLIP-seq
MIRT2640208	hsa-miR-512-3p	CLIP-seq
MIRT2640209	hsa-miR-512-5p	CLIP-seq
MIRT2124877	hsa-miR-513a-3p	CLIP-seq
MIRT2640210	hsa-miR-518d-5p	CLIP-seq
MIRT2640211	hsa-miR-519a	CLIP-seq
MIRT2640212	hsa-miR-519b-3p	CLIP-seq
MIRT2640213	hsa-miR-519b-5p	CLIP-seq
MIRT2640214	hsa-miR-519c-3p	CLIP-seq
MIRT2640215	hsa-miR-519c-5p	CLIP-seq
MIRT2640216	hsa-miR-519d	CLIP-seq
MIRT2640217	hsa-miR-520c-5p	CLIP-seq
MIRT2640218	hsa-miR-520d-5p	CLIP-seq
MIRT2640219	hsa-miR-522	CLIP-seq
MIRT2640220	hsa-miR-524-5p	CLIP-seq
MIRT2640221	hsa-miR-526a	CLIP-seq
MIRT2640222	hsa-miR-539	CLIP-seq
MIRT2640223	hsa-miR-544	CLIP-seq
MIRT2640224	hsa-miR-548ae	CLIP-seq
MIRT2640225	hsa-miR-548aj	CLIP-seq
MIRT2640226	hsa-miR-548am	CLIP-seq
MIRT2640227	hsa-miR-548c-3p	CLIP-seq
MIRT2640228	hsa-miR-548t	CLIP-seq
MIRT739366	hsa-miR-548v	CLIP-seq
MIRT2640229	hsa-miR-548x	CLIP-seq
MIRT2640230	hsa-miR-568	CLIP-seq
MIRT2640231	hsa-miR-579	CLIP-seq
MIRT2640232	hsa-miR-591	CLIP-seq
MIRT2640233	hsa-miR-606	CLIP-seq
MIRT2347286	hsa-miR-614	CLIP-seq
MIRT2640234	hsa-miR-617	CLIP-seq
MIRT2640235	hsa-miR-629	CLIP-seq
MIRT2347287	hsa-miR-630	CLIP-seq
MIRT2640236	hsa-miR-651	CLIP-seq
MIRT2640237	hsa-miR-655	CLIP-seq
MIRT2640238	hsa-miR-656	CLIP-seq
MIRT2640239	hsa-miR-659	CLIP-seq
MIRT2640240	hsa-miR-664	CLIP-seq
MIRT2640241	hsa-miR-708	CLIP-seq
MIRT2640242	hsa-miR-711	CLIP-seq
MIRT2640243	hsa-miR-876-5p	CLIP-seq
MIRT2640244	hsa-miR-890	CLIP-seq
MIRT2640245	hsa-miR-891b	CLIP-seq
MIRT2640246	hsa-miR-93	CLIP-seq
MIRT2640133	hsa-miR-3173-3p	CLIP-seq
MIRT2640144	hsa-miR-3682-3p	CLIP-seq
MIRT2640171	hsa-miR-4491	CLIP-seq
MIRT2640181	hsa-miR-4657	CLIP-seq
MIRT2640206	hsa-miR-510	CLIP-seq
MIRT2640209	hsa-miR-512-5p	CLIP-seq
MIRT2640227	hsa-miR-548c-3p	CLIP-seq
MIRT2640233	hsa-miR-606	CLIP-seq
MIRT2640111	hsa-miR-183	CLIP-seq
MIRT2640133	hsa-miR-3173-3p	CLIP-seq
MIRT2640136	hsa-miR-340	CLIP-seq
MIRT2640206	hsa-miR-510	CLIP-seq
MIRT2640209	hsa-miR-512-5p	CLIP-seq
MIRT2640227	hsa-miR-548c-3p	CLIP-seq
MIRT2640233	hsa-miR-606	CLIP-seq
MIRT2640092	hsa-miR-106a	CLIP-seq
MIRT2640093	hsa-miR-106b	CLIP-seq
MIRT2640094	hsa-miR-1227	CLIP-seq
MIRT2640095	hsa-miR-1246	CLIP-seq
MIRT2640096	hsa-miR-1256	CLIP-seq
MIRT2640097	hsa-miR-1272	CLIP-seq
MIRT2640098	hsa-miR-1284	CLIP-seq
MIRT2640099	hsa-miR-1290	CLIP-seq
MIRT1416348	hsa-miR-129-5p	CLIP-seq
MIRT2640100	hsa-miR-1301	CLIP-seq
MIRT2640101	hsa-miR-130a	CLIP-seq
MIRT2640102	hsa-miR-130b	CLIP-seq
MIRT739369	hsa-miR-137	CLIP-seq
MIRT2640104	hsa-miR-141	CLIP-seq
MIRT2640105	hsa-miR-142-5p	CLIP-seq
MIRT2640106	hsa-miR-148a	CLIP-seq
MIRT2640107	hsa-miR-148b	CLIP-seq
MIRT2640108	hsa-miR-152	CLIP-seq
MIRT2640109	hsa-miR-155	CLIP-seq
MIRT2640110	hsa-miR-17	CLIP-seq
MIRT2640111	hsa-miR-183	CLIP-seq
MIRT2640112	hsa-miR-200a	CLIP-seq
MIRT2640115	hsa-miR-20a	CLIP-seq
MIRT2640116	hsa-miR-20b	CLIP-seq
MIRT2640117	hsa-miR-216b	CLIP-seq
MIRT2640118	hsa-miR-217	CLIP-seq
MIRT739367	hsa-miR-221	CLIP-seq
MIRT739368	hsa-miR-222	CLIP-seq
MIRT2640119	hsa-miR-28-5p	CLIP-seq
MIRT2640120	hsa-miR-299-3p	CLIP-seq
MIRT2640121	hsa-miR-301a	CLIP-seq
MIRT2640122	hsa-miR-301b	CLIP-seq
MIRT2640124	hsa-miR-3117-3p	CLIP-seq
MIRT2640125	hsa-miR-3139	CLIP-seq
MIRT2640126	hsa-miR-3140-3p	CLIP-seq
MIRT2640127	hsa-miR-3148	CLIP-seq
MIRT2640128	hsa-miR-3153	CLIP-seq
MIRT2640129	hsa-miR-3163	CLIP-seq
MIRT2640131	hsa-miR-3167	CLIP-seq
MIRT2640132	hsa-miR-3169	CLIP-seq
MIRT2640133	hsa-miR-3173-3p	CLIP-seq
MIRT2640134	hsa-miR-3200-5p	CLIP-seq
MIRT2692837	hsa-miR-320e	CLIP-seq
MIRT2640135	hsa-miR-330-3p	CLIP-seq
MIRT2640136	hsa-miR-340	CLIP-seq
MIRT2640137	hsa-miR-3545-3p	CLIP-seq
MIRT2640138	hsa-miR-3545-5p	CLIP-seq
MIRT2640139	hsa-miR-3591-5p	CLIP-seq
MIRT2640140	hsa-miR-3613-3p	CLIP-seq
MIRT2640141	hsa-miR-3658	CLIP-seq
MIRT2640142	hsa-miR-3666	CLIP-seq
MIRT2640144	hsa-miR-3682-3p	CLIP-seq
MIRT2640145	hsa-miR-3684	CLIP-seq
MIRT2640146	hsa-miR-3688-5p	CLIP-seq
MIRT2640147	hsa-miR-3689d	CLIP-seq
MIRT755895	hsa-miR-369-3p	CLIP-seq
MIRT2640148	hsa-miR-371b-5p	CLIP-seq
MIRT2640149	hsa-miR-374a	CLIP-seq
MIRT2640150	hsa-miR-374b	CLIP-seq
MIRT2640151	hsa-miR-374c	CLIP-seq
MIRT2640152	hsa-miR-3908	CLIP-seq
MIRT2640156	hsa-miR-4255	CLIP-seq
MIRT2640157	hsa-miR-4256	CLIP-seq
MIRT2640158	hsa-miR-4261	CLIP-seq
MIRT2640159	hsa-miR-4282	CLIP-seq
MIRT2640161	hsa-miR-4295	CLIP-seq
MIRT1416360	hsa-miR-4307	CLIP-seq
MIRT2347283	hsa-miR-431	CLIP-seq
MIRT2640162	hsa-miR-4326	CLIP-seq
MIRT2640163	hsa-miR-4418	CLIP-seq
MIRT2640164	hsa-miR-4428	CLIP-seq
MIRT2640165	hsa-miR-4434	CLIP-seq
MIRT2640166	hsa-miR-4435	CLIP-seq
MIRT2640167	hsa-miR-4453	CLIP-seq
MIRT2640168	hsa-miR-4470	CLIP-seq
MIRT2640169	hsa-miR-4477b	CLIP-seq
MIRT2640170	hsa-miR-448	CLIP-seq
MIRT2640171	hsa-miR-4491	CLIP-seq
MIRT2640172	hsa-miR-4494	CLIP-seq
MIRT2640173	hsa-miR-4502	CLIP-seq
MIRT2640174	hsa-miR-4516	CLIP-seq
MIRT2640175	hsa-miR-4528	CLIP-seq
MIRT2640177	hsa-miR-4538	CLIP-seq
MIRT2640178	hsa-miR-454	CLIP-seq
MIRT2692838	hsa-miR-4635	CLIP-seq
MIRT2640180	hsa-miR-4645-3p	CLIP-seq
MIRT2640181	hsa-miR-4657	CLIP-seq
MIRT2640182	hsa-miR-4660	CLIP-seq
MIRT2640183	hsa-miR-4662a-3p	CLIP-seq
MIRT2640184	hsa-miR-4666-3p	CLIP-seq
MIRT2640185	hsa-miR-4667-3p	CLIP-seq
MIRT2640186	hsa-miR-4668-5p	CLIP-seq
MIRT2640187	hsa-miR-4672	CLIP-seq
MIRT1416342	hsa-miR-4699-3p	CLIP-seq
MIRT2640188	hsa-miR-4705	CLIP-seq
MIRT739370	hsa-miR-4729	CLIP-seq
MIRT2640189	hsa-miR-4759	CLIP-seq
MIRT2124876	hsa-miR-4768-3p	CLIP-seq
MIRT2640190	hsa-miR-4773	CLIP-seq
MIRT2640192	hsa-miR-4777-5p	CLIP-seq
MIRT2640193	hsa-miR-4778-5p	CLIP-seq
MIRT2640194	hsa-miR-4785	CLIP-seq
MIRT2640195	hsa-miR-4789-3p	CLIP-seq
MIRT2640196	hsa-miR-4789-5p	CLIP-seq
MIRT2640197	hsa-miR-4793-3p	CLIP-seq
MIRT2640198	hsa-miR-4795-5p	CLIP-seq
MIRT2640199	hsa-miR-4802-3p	CLIP-seq
MIRT2640201	hsa-miR-499a-5p	CLIP-seq
MIRT2640202	hsa-miR-502-5p	CLIP-seq
MIRT2640203	hsa-miR-5047	CLIP-seq
MIRT2640204	hsa-miR-509-3-5p	CLIP-seq
MIRT2640205	hsa-miR-509-5p	CLIP-seq
MIRT2640206	hsa-miR-510	CLIP-seq
MIRT2640207	hsa-miR-511	CLIP-seq
MIRT2640208	hsa-miR-512-3p	CLIP-seq
MIRT2640209	hsa-miR-512-5p	CLIP-seq
MIRT2124877	hsa-miR-513a-3p	CLIP-seq
MIRT2640210	hsa-miR-518d-5p	CLIP-seq
MIRT2640211	hsa-miR-519a	CLIP-seq
MIRT2640212	hsa-miR-519b-3p	CLIP-seq
MIRT2640213	hsa-miR-519b-5p	CLIP-seq
MIRT2640214	hsa-miR-519c-3p	CLIP-seq
MIRT2640215	hsa-miR-519c-5p	CLIP-seq
MIRT2640216	hsa-miR-519d	CLIP-seq
MIRT2640217	hsa-miR-520c-5p	CLIP-seq
MIRT2640218	hsa-miR-520d-5p	CLIP-seq
MIRT2640219	hsa-miR-522	CLIP-seq
MIRT2640220	hsa-miR-524-5p	CLIP-seq
MIRT2640221	hsa-miR-526a	CLIP-seq
MIRT2640223	hsa-miR-544	CLIP-seq
MIRT2640224	hsa-miR-548ae	CLIP-seq
MIRT2640225	hsa-miR-548aj	CLIP-seq
MIRT2640226	hsa-miR-548am	CLIP-seq
MIRT2640227	hsa-miR-548c-3p	CLIP-seq
MIRT2640228	hsa-miR-548t	CLIP-seq
MIRT739366	hsa-miR-548v	CLIP-seq
MIRT2640229	hsa-miR-548x	CLIP-seq
MIRT2640230	hsa-miR-568	CLIP-seq
MIRT2640231	hsa-miR-579	CLIP-seq
MIRT2640232	hsa-miR-591	CLIP-seq
MIRT2640233	hsa-miR-606	CLIP-seq
MIRT2347286	hsa-miR-614	CLIP-seq
MIRT2640234	hsa-miR-617	CLIP-seq
MIRT2640235	hsa-miR-629	CLIP-seq
MIRT2347287	hsa-miR-630	CLIP-seq
MIRT2640236	hsa-miR-651	CLIP-seq
MIRT2640237	hsa-miR-655	CLIP-seq
MIRT2640238	hsa-miR-656	CLIP-seq
MIRT2640239	hsa-miR-659	CLIP-seq
MIRT2640240	hsa-miR-664	CLIP-seq
MIRT2640241	hsa-miR-708	CLIP-seq
MIRT2640243	hsa-miR-876-5p	CLIP-seq
MIRT2640245	hsa-miR-891b	CLIP-seq
MIRT2640246	hsa-miR-93	CLIP-seq

Show/Hide all (8)

Transcription factor	Regulation	Reference
EGR1	Activation	18798221
HOXB1	Repression	15126340
HOXB13	Repression	15928669
LEF1	Unknown	19174556
RUNX3	Activation	24447505
TP63	Activation	22232078
VHL	Unknown	16407833
ZIC2	Repression	21908606

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	21880741
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12651860
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	8978694
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	8978694
GO:0001093	Function	TFIIB-class transcription factor binding	ISS	8978694
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	8978694
GO:0003677	Function	DNA binding	IDA	1681116
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	2105528, 11802795
GO:0005515	Function	Protein binding	IPI	9824680, 10903890, 16549780, 17318191, 17983804, 19534813, 21103407, 21743491, 21988832, 25402006, 25416956, 25466284, 25609649, 25910212, 26871637, 28051067, 28514442, 29361949, 29892012, 31515488, 32296183, 32814053, 33961781, 35140242, 36217029, 37207277
GO:0005634	Component	Nucleus	IDA	1681116, 21828274
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	ISS	8978694
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0008013	Function	Beta-catenin binding	IPI	29739711
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	10903890, 25609649
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	2105528, 12651860
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	8978694
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0065004	Process	Protein-DNA complex assembly	ISS	8978694
GO:0070369	Component	Beta-catenin-TCF7L2 complex	IDA	12651860
GO:0070888	Function	E-box binding	ISS	8978694
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990907	Component	Beta-catenin-TCF complex	IPI

MIM	HGNC	e!Ensembl
602272	11634	ENSG00000196628

P15884

Protein name

Transcription factor 4 (TCF-4) (Class B basic helix-loop-helix protein 19) (bHLHb19) (Immunoglobulin transcription factor 2) (ITF-2) (SL3-3 enhancer factor 2) (SEF-2)

Protein function

Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostati

PDB

2KWF , 6OD3 , 6OD4 , 6OD5 , 8OSB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	565 → 618	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.

Sequence

MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWG
NGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQG
CHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGL
PSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAG
MLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPA
NGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTA
VWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ
SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKD
IKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKP
QTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA
SNHMGQM

Sequence length

667

Interactions

View interactions

	Reactome
			Myogenesis

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)

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs587784464	RCV003313939	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral hypoplasia	Pathogenic	rs1057518848	RCV000415111	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal dystrophy, Fuchs endothelial, 3	Pathogenic; Likely pathogenic	rs121909122, rs878853149, rs2512664352, rs2512226967, rs2512666940, rs1568622225, rs1568305976, rs1600404795, rs121909123	RCV001249620 RCV003224231 RCV003445349 RCV003883361 RCV003883370 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental disorder	Pathogenic	rs2511499685	RCV003127256	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs2144406630, rs1057518848, rs2511633571	RCV002463815 RCV000415111 RCV001255403	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 4	Likely pathogenic	rs2512178559	RCV003314498	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs878853149, rs1599375711, rs398123561	RCV000224478 RCV000851504 RCV000224701	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs121909121	RCV005887337	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma SHH activated	Pathogenic	rs1057521070	RCV006254053	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs1555710223, rs121909123	RCV001252686 RCV001003999	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs398123561	RCV001374933	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pitt-Hopkins syndrome	Likely pathogenic; Pathogenic	rs2047107163, rs2145681074, rs2146265987, rs2144596313, rs1555718410, rs1555764797, rs2146144310, rs2144403104, rs2146147977, rs2144674947, rs2145955178, rs2145503179, rs2146265828, rs2145729217, rs2144676461 View all (147 more)	RCV001337348 RCV001379512 RCV001377381 RCV001381770 RCV001384784 View all (162 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual deficiency	Pathogenic	rs121909120	RCV000415008	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TCF4-related disorder	Likely pathogenic; Pathogenic	rs1555710813, rs2511498290, rs2512111219, rs1057521070, rs121909123	RCV003393002 RCV003402161 RCV003399861 RCV003422397 RCV003398670	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (72)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF ADRENAL GLAND	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL EDEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS LEISHMANIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia	Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS' ENDOTHELIAL DYSTROPHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculomotor apraxia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Epilepsies, Partial	Epilepsy	BEFREE	28951272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	25853498		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	25853498		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	28934497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	16936105, 19608540, 22341973, 27864929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	19608540		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	20811064, 22321803	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemimegalencephaly	Hemimegalencephaly	BEFREE	25194490, 30762606, 31444548		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	Mental retardation	BEFREE	28934497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	27566410		★★★★★ ★☆☆☆☆ Found in Text Mining only

TCF4 (transcription factor 4)