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	6910
Gene name	T-box transcription factor 5
Gene symbol	TBX5
Synonyms (NCBI Gene)	HOS
Chromosome	12
Chromosome location	12q24.21
Summary	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894377	C>A	Pathogenic	Coding sequence variant, stop gained
rs104894378	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894379	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs104894381	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894382	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894383	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894384	A>G	Pathogenic	Coding sequence variant, missense variant
rs115178276	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs147405081	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Missense variant, coding sequence variant
rs200461617	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs377649723	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs483353129	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs515726234	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs756049331	G>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs765204502	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs767197919	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs773397553	G>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs863223773	C>G	Pathogenic	Missense variant, coding sequence variant
rs863223776	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863223777	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs863223778	G>A	Pathogenic	Stop gained, coding sequence variant
rs863223782	GGCCAGGCATGGCGGGCTCAGCTTTGC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs863223783	GGTGGCGGGGGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223784	CAATGCGCCCCGGTGGCGGGGGA>TCCTGG	Pathogenic	Frameshift variant, coding sequence variant
rs863223785	TGAGCTTGAGTTTCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223786	->T	Pathogenic	Frameshift variant, coding sequence variant
rs863223788	G>A	Pathogenic	Stop gained, coding sequence variant
rs878853750	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041247	G>C,T	Pathogenic	Coding sequence variant, stop gained
rs886041606	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs903933027	G>C,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1057516042	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1057517833	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057518199	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519050	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520136	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060503154	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064794030	C>A	Pathogenic	Stop gained, coding sequence variant
rs1064794062	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064795870	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1131691460	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691932	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555223259	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555223294	TTC>CT,GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555225344	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555225989	->AACG	Pathogenic	Frameshift variant, coding sequence variant
rs1555226005	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555226301	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1555226305	TTGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555226315	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555226322	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555226412	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555226420	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555226575	C>A,T	Likely-pathogenic	Intron variant
rs1555226584	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555226588	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565923835	G>C	Pathogenic	Stop gained, coding sequence variant
rs1565923887	C>A	Pathogenic	Stop gained, coding sequence variant
rs1565927645	G>A	Pathogenic	Stop gained, coding sequence variant
rs1565927664	G>C	Pathogenic	Stop gained, coding sequence variant
rs1565927740	A>T	Pathogenic	Stop gained, coding sequence variant
rs1565927747	G>A	Pathogenic	Stop gained, coding sequence variant
rs1565927794	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565927906	C>G	Pathogenic	Splice acceptor variant
rs1565935314	A>G	Likely-pathogenic	Splice donor variant
rs1565935397	C>A	Pathogenic	Stop gained, coding sequence variant
rs1565935410	AATC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565935426	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565935432	A>C	Pathogenic	Stop gained, coding sequence variant
rs1565935458	T>C	Likely-pathogenic	Splice acceptor variant
rs1565939303	->TTTTCATCCGCTTT	Pathogenic	Frameshift variant, coding sequence variant
rs1565939337	G>T	Pathogenic	Stop gained, coding sequence variant
rs1565940841	C>A	Likely-pathogenic	Splice donor variant
rs1565941046	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565941072	T>C	Likely-pathogenic	Splice acceptor variant
rs1565941422	G>T	Pathogenic	Stop gained, coding sequence variant
rs1565941529	T>A	Pathogenic	Stop gained, coding sequence variant
rs1565941579	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1565941587	ATCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565942511	T>C	Likely-pathogenic	Splice acceptor variant
rs1565943328	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1593836748	->CG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1593847163	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593876058	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593880204	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593881162	A>G	Pathogenic	Splice donor variant
rs1593883930	AACACTTTGA>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018791	hsa-miR-335-5p	Microarray	18185580
MIRT1415302	hsa-miR-2355-3p	CLIP-seq
MIRT1415303	hsa-miR-3119	CLIP-seq
MIRT1415304	hsa-miR-342-3p	CLIP-seq
MIRT1415305	hsa-miR-4639-3p	CLIP-seq
MIRT1415306	hsa-miR-4646-3p	CLIP-seq
MIRT1415307	hsa-miR-520d-5p	CLIP-seq
MIRT1415308	hsa-miR-524-5p	CLIP-seq
MIRT1415309	hsa-miR-603	CLIP-seq
MIRT1415310	hsa-miR-1208	CLIP-seq
MIRT1415311	hsa-miR-128	CLIP-seq
MIRT1415312	hsa-miR-1910	CLIP-seq
MIRT1415313	hsa-miR-27a	CLIP-seq
MIRT1415314	hsa-miR-27b	CLIP-seq
MIRT1415315	hsa-miR-4722-3p	CLIP-seq
MIRT2440929	hsa-miR-4434	CLIP-seq
MIRT2440930	hsa-miR-4516	CLIP-seq
MIRT1415310	hsa-miR-1208	CLIP-seq
MIRT1415311	hsa-miR-128	CLIP-seq
MIRT1415312	hsa-miR-1910	CLIP-seq
MIRT1415313	hsa-miR-27a	CLIP-seq
MIRT1415314	hsa-miR-27b	CLIP-seq
MIRT2461215	hsa-miR-4282	CLIP-seq
MIRT1415315	hsa-miR-4722-3p	CLIP-seq
MIRT2461216	hsa-miR-873	CLIP-seq
MIRT2639556	hsa-miR-1207-3p	CLIP-seq
MIRT1415310	hsa-miR-1208	CLIP-seq
MIRT2639557	hsa-miR-1252	CLIP-seq
MIRT2639558	hsa-miR-1256	CLIP-seq
MIRT2639559	hsa-miR-1257	CLIP-seq
MIRT2639560	hsa-miR-1265	CLIP-seq
MIRT2639561	hsa-miR-1268	CLIP-seq
MIRT2639562	hsa-miR-1268b	CLIP-seq
MIRT2639563	hsa-miR-1273g	CLIP-seq
MIRT2639564	hsa-miR-1275	CLIP-seq
MIRT1415311	hsa-miR-128	CLIP-seq
MIRT2639565	hsa-miR-1323	CLIP-seq
MIRT2639566	hsa-miR-1827	CLIP-seq
MIRT1415312	hsa-miR-1910	CLIP-seq
MIRT2639567	hsa-miR-200b	CLIP-seq
MIRT2639568	hsa-miR-200c	CLIP-seq
MIRT2639569	hsa-miR-2113	CLIP-seq
MIRT2639570	hsa-miR-224	CLIP-seq
MIRT2639571	hsa-miR-2392	CLIP-seq
MIRT2639572	hsa-miR-23a	CLIP-seq
MIRT2639573	hsa-miR-23b	CLIP-seq
MIRT2639574	hsa-miR-23c	CLIP-seq
MIRT1415313	hsa-miR-27a	CLIP-seq
MIRT1415314	hsa-miR-27b	CLIP-seq
MIRT2639575	hsa-miR-30a	CLIP-seq
MIRT2639576	hsa-miR-30b	CLIP-seq
MIRT2639577	hsa-miR-30c	CLIP-seq
MIRT2639578	hsa-miR-30d	CLIP-seq
MIRT2639579	hsa-miR-30e	CLIP-seq
MIRT2639580	hsa-miR-31	CLIP-seq
MIRT2639581	hsa-miR-3128	CLIP-seq
MIRT2639582	hsa-miR-3145-5p	CLIP-seq
MIRT2639583	hsa-miR-3148	CLIP-seq
MIRT2639584	hsa-miR-3150a-3p	CLIP-seq
MIRT2639585	hsa-miR-3158-3p	CLIP-seq
MIRT2639586	hsa-miR-3175	CLIP-seq
MIRT2639587	hsa-miR-3183	CLIP-seq
MIRT2639588	hsa-miR-329	CLIP-seq
MIRT2639589	hsa-miR-345	CLIP-seq
MIRT2639590	hsa-miR-362-3p	CLIP-seq
MIRT2639591	hsa-miR-3650	CLIP-seq
MIRT2639592	hsa-miR-3652	CLIP-seq
MIRT2639593	hsa-miR-3663-3p	CLIP-seq
MIRT2639594	hsa-miR-374c	CLIP-seq
MIRT2639595	hsa-miR-3920	CLIP-seq
MIRT2639596	hsa-miR-3941	CLIP-seq
MIRT2639597	hsa-miR-3978	CLIP-seq
MIRT2639598	hsa-miR-4265	CLIP-seq
MIRT2639599	hsa-miR-4270	CLIP-seq
MIRT2639600	hsa-miR-4271	CLIP-seq
MIRT2639601	hsa-miR-4279	CLIP-seq
MIRT2461215	hsa-miR-4282	CLIP-seq
MIRT2639602	hsa-miR-429	CLIP-seq
MIRT2639603	hsa-miR-4296	CLIP-seq
MIRT2639604	hsa-miR-4302	CLIP-seq
MIRT2639605	hsa-miR-4310	CLIP-seq
MIRT2639606	hsa-miR-4322	CLIP-seq
MIRT2639607	hsa-miR-4328	CLIP-seq
MIRT2639608	hsa-miR-4417	CLIP-seq
MIRT2639609	hsa-miR-4426	CLIP-seq
MIRT2639610	hsa-miR-4427	CLIP-seq
MIRT2639611	hsa-miR-4430	CLIP-seq
MIRT2639612	hsa-miR-4441	CLIP-seq
MIRT2639613	hsa-miR-4446-3p	CLIP-seq
MIRT2639614	hsa-miR-4455	CLIP-seq
MIRT2639615	hsa-miR-4474-3p	CLIP-seq
MIRT2639616	hsa-miR-4487	CLIP-seq
MIRT2639617	hsa-miR-4505	CLIP-seq
MIRT2639618	hsa-miR-452	CLIP-seq
MIRT2639619	hsa-miR-4525	CLIP-seq
MIRT2639620	hsa-miR-4642	CLIP-seq
MIRT2639621	hsa-miR-4647	CLIP-seq
MIRT2639622	hsa-miR-4656	CLIP-seq
MIRT2639623	hsa-miR-4658	CLIP-seq
MIRT2639624	hsa-miR-466	CLIP-seq
MIRT2639625	hsa-miR-4662a-3p	CLIP-seq
MIRT2639626	hsa-miR-4662b	CLIP-seq
MIRT2639627	hsa-miR-4665-5p	CLIP-seq
MIRT2639628	hsa-miR-4666-5p	CLIP-seq
MIRT2639629	hsa-miR-4667-5p	CLIP-seq
MIRT2639630	hsa-miR-4668-5p	CLIP-seq
MIRT2639631	hsa-miR-4670-5p	CLIP-seq
MIRT2639632	hsa-miR-4672	CLIP-seq
MIRT2639633	hsa-miR-4676-3p	CLIP-seq
MIRT2639634	hsa-miR-4696	CLIP-seq
MIRT2639635	hsa-miR-4697-3p	CLIP-seq
MIRT2639636	hsa-miR-4700-5p	CLIP-seq
MIRT1415315	hsa-miR-4722-3p	CLIP-seq
MIRT2639637	hsa-miR-4723-3p	CLIP-seq
MIRT2639638	hsa-miR-4723-5p	CLIP-seq
MIRT2639639	hsa-miR-4725-3p	CLIP-seq
MIRT2639640	hsa-miR-4738-5p	CLIP-seq
MIRT2639641	hsa-miR-4753-3p	CLIP-seq
MIRT2639642	hsa-miR-4755-3p	CLIP-seq
MIRT2639643	hsa-miR-4758-5p	CLIP-seq
MIRT2639644	hsa-miR-4768-5p	CLIP-seq
MIRT2639645	hsa-miR-4777-5p	CLIP-seq
MIRT2639646	hsa-miR-498	CLIP-seq
MIRT2639647	hsa-miR-518d-5p	CLIP-seq
MIRT2639648	hsa-miR-519b-5p	CLIP-seq
MIRT2639649	hsa-miR-519c-5p	CLIP-seq
MIRT2639650	hsa-miR-520c-5p	CLIP-seq
MIRT2639651	hsa-miR-521	CLIP-seq
MIRT2639652	hsa-miR-526a	CLIP-seq
MIRT2639653	hsa-miR-548a-3p	CLIP-seq
MIRT2639654	hsa-miR-548e	CLIP-seq
MIRT2639655	hsa-miR-548f	CLIP-seq
MIRT2639656	hsa-miR-548o	CLIP-seq
MIRT2639657	hsa-miR-555	CLIP-seq
MIRT2639658	hsa-miR-562	CLIP-seq
MIRT2639659	hsa-miR-563	CLIP-seq
MIRT2639660	hsa-miR-585	CLIP-seq
MIRT2639661	hsa-miR-599	CLIP-seq
MIRT1415309	hsa-miR-603	CLIP-seq
MIRT2639662	hsa-miR-609	CLIP-seq
MIRT2639663	hsa-miR-625	CLIP-seq
MIRT2639664	hsa-miR-637	CLIP-seq
MIRT2639665	hsa-miR-655	CLIP-seq
MIRT2639666	hsa-miR-875-3p	CLIP-seq
MIRT2639667	hsa-miR-9	CLIP-seq
MIRT2639668	hsa-miR-939	CLIP-seq
MIRT2639556	hsa-miR-1207-3p	CLIP-seq
MIRT1415310	hsa-miR-1208	CLIP-seq
MIRT2692744	hsa-miR-1237	CLIP-seq
MIRT2692745	hsa-miR-1248	CLIP-seq
MIRT2639560	hsa-miR-1265	CLIP-seq
MIRT2639563	hsa-miR-1273g	CLIP-seq
MIRT1415311	hsa-miR-128	CLIP-seq
MIRT1415312	hsa-miR-1910	CLIP-seq
MIRT2639570	hsa-miR-224	CLIP-seq
MIRT2639571	hsa-miR-2392	CLIP-seq
MIRT2639572	hsa-miR-23a	CLIP-seq
MIRT2639573	hsa-miR-23b	CLIP-seq
MIRT2639574	hsa-miR-23c	CLIP-seq
MIRT1415313	hsa-miR-27a	CLIP-seq
MIRT1415314	hsa-miR-27b	CLIP-seq
MIRT2639580	hsa-miR-31	CLIP-seq
MIRT2639581	hsa-miR-3128	CLIP-seq
MIRT2639585	hsa-miR-3158-3p	CLIP-seq
MIRT2639587	hsa-miR-3183	CLIP-seq
MIRT2639595	hsa-miR-3920	CLIP-seq
MIRT2639597	hsa-miR-3978	CLIP-seq
MIRT2639601	hsa-miR-4279	CLIP-seq
MIRT2461215	hsa-miR-4282	CLIP-seq
MIRT2639609	hsa-miR-4426	CLIP-seq
MIRT2639610	hsa-miR-4427	CLIP-seq
MIRT2639613	hsa-miR-4446-3p	CLIP-seq
MIRT2639616	hsa-miR-4487	CLIP-seq
MIRT2639621	hsa-miR-4647	CLIP-seq
MIRT2639622	hsa-miR-4656	CLIP-seq
MIRT2639625	hsa-miR-4662a-3p	CLIP-seq
MIRT2639626	hsa-miR-4662b	CLIP-seq
MIRT1415315	hsa-miR-4722-3p	CLIP-seq
MIRT2639637	hsa-miR-4723-3p	CLIP-seq
MIRT2639641	hsa-miR-4753-3p	CLIP-seq
MIRT2639644	hsa-miR-4768-5p	CLIP-seq
MIRT2639646	hsa-miR-498	CLIP-seq
MIRT2692746	hsa-miR-593	CLIP-seq
MIRT2639666	hsa-miR-875-3p	CLIP-seq
MIRT2692747	hsa-miR-942	CLIP-seq

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Transcription factor	Regulation	Reference
NKX2-5	Unknown	15095414

100

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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	26926761
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
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	IDA	29174768
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001708	Process	Cell fate specification	IBA
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003163	Process	Sinoatrial node development	IEA
GO:0003163	Process	Sinoatrial node development	ISS	11572777
GO:0003166	Process	Bundle of His development	IEA
GO:0003166	Process	Bundle of His development	ISS
GO:0003167	Process	Atrioventricular bundle cell differentiation	IEA
GO:0003167	Process	Atrioventricular bundle cell differentiation	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003197	Process	Endocardial cushion development	IEA
GO:0003218	Process	Cardiac left ventricle formation	IBA
GO:0003218	Process	Cardiac left ventricle formation	IEA
GO:0003218	Process	Cardiac left ventricle formation	ISS
GO:0003229	Process	Ventricular cardiac muscle tissue development	IEA
GO:0003281	Process	Ventricular septum development	IEA
GO:0003281	Process	Ventricular septum development	ISS
GO:0003283	Process	Atrial septum development	IEA
GO:0003677	Function	DNA binding	IDA	16332960
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11431700, 12499378, 16332960
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	11431700
GO:0005515	Function	Protein binding	IPI	11431700, 12499378, 12845333, 16332960, 23245941, 24000169, 26926761, 29174768, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12237100, 12499378, 14519429, 29174768
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	14519429, 29174768
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	20299672
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007267	Process	Cell-cell signaling	IDA	11161571
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007389	Process	Pattern specification process	IBA
GO:0007389	Process	Pattern specification process	IEA
GO:0007507	Process	Heart development	IDA	15138308
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	8988164, 8988165
GO:0007507	Process	Heart development	IMP	8988165, 16183809, 25963046
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	11161571, 12237100
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	TAS	20299672
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IMP	8988164
GO:0030336	Process	Negative regulation of cell migration	IDA	15138308
GO:0032991	Component	Protein-containing complex	IDA	26926761
GO:0032993	Component	Protein-DNA complex	IDA	26926761
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IMP	16183809
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	IMP	8988164, 8988165
GO:0043565	Function	Sequence-specific DNA binding	IDA	11431700, 12499378
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11431700, 12499378, 12845333, 16332960, 27035640
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	29174768
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11431700
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0051891	Process	Positive regulation of cardioblast differentiation	IDA	11431700
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060039	Process	Pericardium development	IDA	15138308
GO:0060044	Process	Negative regulation of cardiac muscle cell proliferation	IDA	11161571
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	ISS
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060928	Process	Atrioventricular node cell development	IEA
GO:0060928	Process	Atrioventricular node cell development	ISS
GO:0060929	Process	Atrioventricular node cell fate commitment	IEA
GO:0060929	Process	Atrioventricular node cell fate commitment	ISS
GO:0060980	Process	Cell migration involved in coronary vasculogenesis	TAS	20299672
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	11431700
GO:0072513	Process	Positive regulation of secondary heart field cardioblast proliferation	IEA
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	IEA
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	ISS
GO:1901846	Process	Positive regulation of cell communication by electrical coupling involved in cardiac conduction	TAS	15289437
GO:1903598	Process	Positive regulation of gap junction assembly	IEA
GO:1903598	Process	Positive regulation of gap junction assembly	ISS
GO:1903781	Process	Positive regulation of cardiac conduction	IEA
GO:1903781	Process	Positive regulation of cardiac conduction	ISS

MIM	HGNC	e!Ensembl
601620	11604	ENSG00000089225

Q99593

Protein name

T-box transcription factor TBX5 (T-box protein 5)

Protein function

DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:26917986, PubMed:27035640, PubMed:29174768, PubMed:8988164). Binds to

PDB

2X6U , 2X6V , 4S0H , 5BQD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00907	T-box	56 → 238	T-box	Domain

Sequence

MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHE
RELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNK
WSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ
PRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSD
DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGP
SQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQ
QQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDR
LPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPG
TLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS

Sequence length

518

Interactions

View interactions

	Reactome
			YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors

909

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aortic valve disease 2	Pathogenic; Likely pathogenic	rs2136410724, rs2136418265, rs2136411098, rs2136373795, rs2136416963, rs2136418056, rs2136418310, rs2136360335, rs2136373205, rs2136397746, rs1408227928, rs2136360259, rs2136373802, rs2136373207, rs2136416601 View all (45 more)	RCV003647836 RCV001372014 RCV001379657 RCV001385806 RCV001384367 RCV001388526 RCV001384609 RCV001939419 RCV001950829 RCV001964425 RCV002002406 RCV001960714 RCV002041938 RCV001913555 RCV001986375 RCV003647921 RCV002843988 RCV000459213 RCV002517187 RCV001390030 RCV002914362 RCV002967760 RCV000474989 RCV000473181 RCV000227368 RCV000654912 RCV003533931 RCV003534104 RCV003534064 RCV003531474 RCV003531564 RCV003532547 RCV003648289 RCV003532089 RCV000460311 RCV000466448 RCV000466953 RCV000466209 RCV000654913 RCV000531546 RCV000654911 RCV000654910 RCV000700317 RCV000690734 RCV000687827 RCV000697914 RCV001056565 RCV000816157 RCV000813382 RCV000823855 RCV001049864 RCV001062251 RCV001068835 RCV001035895 RCV001063573 RCV001053399 RCV001060636 RCV001214359 RCV001230100 RCV001243434 RCV001239166 RCV001229255
Atrial septal defect 1	Pathogenic	rs1555226315	RCV000508630
Atrial septal defect, ostium secundum type	Pathogenic	rs1555223259	RCV000590978
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2136373205, rs2540425164, rs2540424549, rs104894378, rs104894382, rs767197919, rs2540471436, rs886041247, rs1565941576, rs1593881162	RCV004996155 RCV002351588 RCV002389570 RCV002362569 RCV002362570 RCV006342922 RCV004266735 RCV004021059 RCV006342541 RCV005405326
Congenital heart disease (variable)	Likely pathogenic	rs1555223294	RCV000590641 RCV000587686
Familial atrioventricular septal defect	Likely pathogenic	rs1057519050	RCV000416326
Heart, malformation of	Likely pathogenic; Pathogenic	rs515726234, rs104894382	RCV000128626 RCV000128627
Holt-Oram syndrome	Pathogenic; Likely pathogenic	rs1871662633, rs1870765797, rs1871659583, rs2136418232, rs2136421421, rs2136421561, rs2540471641, rs863223778, rs863223788, rs104894377, rs104894378, rs104894381, rs104894382, rs1593880204, rs104894383 View all (63 more)	RCV001332266 RCV001334303 RCV001334302 RCV001530478 RCV005050392 RCV001730136 RCV002288335 RCV004555857 RCV000782289 RCV000008456 RCV000008457 RCV000008458 RCV000008459 RCV000008460 RCV000008461 RCV000008462 RCV000008463 RCV000782309 RCV003153142 RCV003228719 RCV000782337 RCV000782331 RCV003318328 RCV005871128 RCV003984873 RCV003984875 RCV003984876 RCV003486521 RCV004595003 RCV000408637 RCV000782334 RCV000578349 RCV000760294 RCV000782303 RCV005897327 RCV000782310 RCV000782294 RCV000782293 RCV000782314 RCV000782302 RCV000782345 RCV000782300 RCV000782340 RCV000782347 RCV000782341 RCV000782333 RCV000782296 RCV000782316 RCV000782298 RCV000782311 RCV000782299 RCV000782327 RCV000782317 RCV000782325 RCV000782346 RCV000782324 RCV000782312 RCV000782297 RCV000782329 RCV000782304 RCV000782336 RCV000782291 RCV000782307 RCV000782320 RCV000782326 RCV000782323 RCV000782301 RCV000782339 RCV000782328 RCV000782348 RCV000782342 RCV000782306 RCV000782292 RCV000782338 RCV000782330 RCV000782344 RCV000988919 RCV001257575 RCV005054332 RCV001193147 RCV001270727
Mitral regurgitation	Pathogenic	rs1555223259	RCV000590978
Primary dilated cardiomyopathy	Pathogenic	rs2136410724	RCV001594459
TBX5-related disorder	Pathogenic; Likely pathogenic	rs863223788, rs863223776, rs104894379, rs2136411098, rs1871328488	RCV003390935 RCV004730904 RCV003398470 RCV003416805 RCV003396678
Ventricular septal defect	Pathogenic	rs1555223259	RCV000590978

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Benign; Likely benign	rs77357563	RCV005893455
Melanoma	Uncertain significance	rs1869532900	RCV005931028
Wolff-Parkinson-White pattern	Uncertain significance	rs533581420	RCV000656176

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	26783083
Adenocarcinoma of Lung	Associate	26035298, 34238250, 34558724
Adrenocortical Carcinoma	Associate	34238250
Aortic Coarctation	Associate	30834692
Arrhythmias Cardiac	Associate	23717681, 25725155, 26762269
Arthritis Rheumatoid	Stimulate	28782180
Ataxia	Associate	12789647
Atrial Fibrillation	Associate	23717681, 26267381, 26762269, 26917986, 27479212, 29459676, 29545482, 33350184
Atrial Standstill	Associate	23717681
Atrioventricular Block	Associate	23717681
Autistic Disorder	Associate	30834692
Barrett Esophagus	Associate	25447851, 26783083
Capillary Malformation Arteriovenous Malformation	Associate	31388035
Carcinoma Non Small Cell Lung	Associate	24937636
Carcinoma Non Small Cell Lung	Inhibit	30866410
Carcinoma Squamous Cell	Associate	34238250
Cardiomegaly	Associate	37277029
Cardiomyopathy Dilated	Associate	25725155, 34011823
Cardiovascular Abnormalities	Associate	10077612
Cardiovascular Diseases	Associate	29100088
Cleft Palate	Associate	26219450
Colorectal Neoplasms	Associate	34526059
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32168371
Coronary Artery Disease	Associate	23863953, 28469241
Death Sudden	Associate	33369127
Death Sudden Cardiac	Associate	33369127
Developmental Disabilities	Associate	28469241
Diabetes Mellitus Type 2	Associate	26634513
Double Outlet Right Ventricle	Associate	30834692
Ductus Arteriosus Patent	Associate	30834692
Ectrodactyly	Associate	28469241
Endometrial Neoplasms	Associate	31779688, 34238250
Genetic Diseases Inborn	Associate	35121196
Heart Defects Congenital	Associate	12789647, 19648116, 22011241, 25725155, 26283027, 26401820, 29952356, 30552424, 30834692, 35121196, 35514310, 35697867, 37096669, 40430071
Heart Diseases	Associate	10077612, 19648116, 28469241, 31388035, 35514310, 37210946
Heart Septal Defects	Associate	29952356, 30834692
Heart Septal Defects Atrial	Associate	30552424
Heart Septal Defects Ventricular	Associate	35870951, 36759823, 37210946
Hecht Scott syndrome	Associate	10077612
Heterotaxy Syndrome	Associate	29545482
Holt Oram syndrome	Associate	10077612, 12789647, 17502954, 19648116, 22011241, 22333898, 26219450, 26401820, 26917986, 27958623, 30552424, 33497883, 34490705, 34894535, 35121196, 35514310, 37210946 View all (2 more)
Inflammation	Associate	28782180
Insulin Resistance	Associate	26634513, 27477082
Keloid	Inhibit	36413177
Long QT Syndrome	Associate	33369127
Lung Neoplasms	Associate	30120911
Melanoma Cutaneous Malignant	Associate	35003317
Metabolic Syndrome	Associate	22170361
Musculoskeletal Abnormalities	Associate	10077612
Neoplasm Metastasis	Associate	29542868
Neoplasms	Associate	24338397, 28971975, 29542868
Neoplasms	Inhibit	24937636, 34238250
Pelvic Organ Prolapse	Associate	34027909
Prolapse	Associate	34027909
Pulmonary Disease Chronic Obstructive	Associate	26423011
Retinopathy of Prematurity	Associate	18787502
Scimitar Syndrome	Associate	35514310
Teratogenesis	Associate	31388035
Tetralogy of Fallot	Associate	24479926, 32368852
Upper Extremity Deformities Congenital	Associate	19648116
Urethritis	Associate	36124557

TBX5 (T-box transcription factor 5)