GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

TBX5 (T-box transcription factor 5)

Gene

6910

T-box transcription factor 5

TBX5

HOS

12q24.21

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

Show/Hide all(87)

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

Show/Hide all(185)

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

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
NKX2-5	Unknown	15095414

Show/Hide all(52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	26926761
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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:0001708	Process	Cell fate specification	IBA	21873635
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003166	Process	Bundle of His development	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003197	Process	Endocardial cushion development	IEA
GO:0003218	Process	Cardiac left ventricle formation	IBA	21873635
GO:0003218	Process	Cardiac left ventricle formation	ISS
GO:0003281	Process	Ventricular septum development	ISS
GO:0003677	Function	DNA binding	IDA	16332960
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11431700, 12499378, 16332960
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	IDA	12237100, 12499378, 14519429, 29174768
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	14519429, 29174768
GO:0005737	Component	Cytoplasm	TAS	20299672
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0007267	Process	Cell-cell signaling	IDA	11161571
GO:0007389	Process	Pattern specification process	IBA	21873635
GO:0007507	Process	Heart development	IDA	15138308
GO:0007507	Process	Heart development	IMP	8988164, 8988165, 16183809, 25963046
GO:0008134	Function	Transcription factor binding	IPI	11431700
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	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	IBA	21873635
GO:0035115	Process	Embryonic forelimb morphogenesis	IMP	16183809
GO:0035136	Process	Forelimb morphogenesis	IMP	8988164, 8988165
GO:0043565	Function	Sequence-specific DNA binding	IDA	11431700, 12499378
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11431700, 12499378, 12845333, 16332960, 27035640
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	29174768
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11431700
GO:0051891	Process	Positive regulation of cardioblast differentiation	IDA	11431700
GO:0055007	Process	Cardiac muscle cell differentiation	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:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060980	Process	Cell migration involved in coronary vasculogenesis	TAS	20299672
GO:0072513	Process	Positive regulation of secondary heart field cardioblast proliferation	IEA

MIM	HGNC	e!Ensembl
601620	11604	ENSG00000089225

Protein

UniProt ID

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

Associated diseases

Show/Hide Causal Diseases (13)

Causal
Disease name	Disease term	dbSNP ID	References
Aortic valve disease	AORTIC VALVE DISEASE 2	rs104894378, rs104894382, rs387907283, rs863223788, rs863223786, rs863223777, rs878853750, rs886041247, rs1057516042, rs1057520136, rs863223776, rs1555226420, rs1060503154, rs1555225344, rs1555225989, rs1555226005, rs1555226322, rs764038221, rs1565941046, rs1565927747, rs1565923835, rs1565941072, rs1595804976, rs1593847163, rs1593883930, rs1593881162, rs1870762150, rs1871328960, rs1871673161, rs1208004863, rs1872004016, rs1871328488, rs1871673582	16917909, 10077612, 11555635, 12499378, 8988164, 16183809, 20519243, 21637475, 8988165, 10077762, 17534187, 25500235, 12789647, 15710732, 25931334, 16380715
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	29892015, 28416822, 28416818, 30061737, 22544366
Atrial septal defect	Atrial Septal Defects, ATRIAL SEPTAL DEFECT 1	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Atrioventricular block	First degree atrioventricular block	rs766840243, rs763809932
Atrioventricular septal defect	Atrioventricular Septal Defect	rs121912626, rs121912627, rs137852683, rs137852686, rs104894073, rs1598737972, rs1057518960, rs774018674, rs1575650682, rs1598737976, rs1188358849, rs2033057699
Holt-oram syndrome	Holt-Oram syndrome	rs104894377, rs104894378, rs104894381, rs104894382, rs1593880204, rs104894383, rs104894384, rs104894379, rs863223778, rs863223788, rs1555226315, rs863223776, rs886041247, rs1057516042, rs1555225344, rs1064795870, rs1565941587, rs1565927747, rs756049331, rs377649723, rs765204502, rs1565923887, rs1565927645, rs1565927664, rs1565927740, rs1565927794, rs1565935314, rs1565935397, rs1565935410, rs1565935426, rs1565935432, rs1565935458, rs1565939303, rs1565939337, rs1555226301, rs1565940841, rs1565941422, rs1565941529, rs767197919, rs1565941579, rs1555226575, rs1565942511, rs903933027, rs1565943328, rs1593876058, rs1869529188	15735645, 8988165, 19648116, 21897873, 8730285, 10842287, 12818525, 10077612, 20450920, 8988164, 26938784, 12499378, 11555635, 20519243, 11431700, 29755943
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Phocomelia	Phocomelia	rs104893835, rs387907231, rs397514643, rs397514666, rs879255548
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	8730285
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775	29555671

Show/Hide Unknown Diseases (10)

Unknown
Disease name	Disease term	dbSNP ID	References
Clinodactyly	Clinodactyly of fingers
Short clavicles	Congenital hypoplasia of clavicle
Congenital pectus excavatum	Congenital pectus excavatum
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	rs199865688, rs397515994, rs757096307	30061737, 29892015
Pulmonary venous return anomaly	Pulmonary Venous Return Anomaly
Secundum atrial septal defect	Ostium secundum atrial septal defect		29555671
Sprengel deformity	Sprengel deformity
Syndactyly of fingers	Syndactyly of fingers
Thumb aplasia	Thumb aplasia
Wildervanck`s syndrome	Wildervanck`s syndrome		15735645

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412