• Gene id: 6910

Gene Summary

• Gene Symbol: TBX5   Gene   UCSC   Ensembl
• Aliases: HOS
• Gene name: T-box transcription factor 5
• Alternate names: T-box transcription factor TBX5, T-box 5, T-box protein 5,
• Gene location: 12q24.21 (114408707: 114353910)     Exons: 3     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 601620

Protein Summary

• Protein general information: Q99593  
  • Name: T box transcription factor TBX5 (T box protein 5)
  • Length: 518  
  • Mass: 57711
• Sequence:

  MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHERELWLKFHEVGTEMI
  ITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPDSPATGAHWMR
  QLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQL
  KIENNPFAKGFRGSDDMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGP
  SQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRTESAQR
  QACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQL
  GEGMFQHQTSVAHQPVVRQCGPQTGLQSPGTLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS

• Structural information:
  • Interpro: IPR008967  IPR036960  IPR001699  IPR018186  
  • Prosite: PS01283 PS01264 PS50252
  • CDD: cd00182
  • PDB: 2X6U 2X6V 4S0H 5BQD
  • PDBsum: 2X6U 2X6V 4S0H 5BQD
  • STRING: ENSP00000309913
• Other Databases: GeneCards:  TBX5  Malacards:  TBX5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003218	cardiac left ventricle formation	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0035115	embryonic forelimb morphogenesis	IBA	biological process
GO:0007389	pattern specification process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0001708	cell fate specification	IBA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0010719	negative regulation of epithelial to mesenchymal transition	TAS	biological process
GO:0060980	cell migration involved in coronary vasculogenesis	TAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007507	heart development	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0035136	forelimb morphogenesis	IMP	biological process
GO:0035136	forelimb morphogenesis	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0003197	endocardial cushion development	IEA	biological process
GO:0003218	cardiac left ventricle formation	IEA	biological process
GO:0003229	ventricular cardiac muscle tissue development	IEA	biological process
GO:0003283	atrial septum development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0035136	forelimb morphogenesis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0060413	atrial septum morphogenesis	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0002009	morphogenesis of an epithelium	IEA	biological process
GO:0003166	bundle of His development	IEA	biological process
GO:0003181	atrioventricular valve morphogenesis	IEA	biological process
GO:0003281	ventricular septum development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0072513	positive regulation of secondary heart field cardioblast proliferation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0003218	cardiac left ventricle formation	ISS	biological process
GO:0003281	ventricular septum development	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0007267	cell-cell signaling	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0060044	negative regulation of cardiac muscle cell proliferation	IDA	biological process
GO:0060039	pericardium development	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0051891	positive regulation of cardioblast differentiation	IDA	biological process
GO:0007507	heart development	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0007507	heart development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030326	embryonic limb morphogenesis	IMP	biological process
GO:0035115	embryonic forelimb morphogenesis	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Holt-Oram syndrome	KEGG:H00433
Holt-Oram syndrome	KEGG:H00433
Holt-Oram syndrome	PMID:18451335
Holt-Oram syndrome	PMID:20519243
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)