GENERAL INFORMATIONi
Gene namei TBX5
Synonyms HOS
Gene descriptioni T-box transcription factor 5
Protein classi Disease related genes
Human disease related genes
Transcription factors
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 12
Cytoband q24.21
Chromosome location (bp) 114353911 - 114408442
Number of transcriptsi 4
Ensembl ENSG00000089225 (version 109)
Entrez gene 6910
HGNC HGNC:11604
UniProt Q99593 (UniProt - Evidence at protein level)
neXtProt NX_Q99593
GeneCards TBX5
Antibodypedia TBX5 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation 1, 2, 3, 4, 5, 6. Binds to the core DNA motif of NPPA promoter 7. show less
Molecular function (UniProt)i Developmental protein, DNA-binding
Biological process (UniProt)i Transcription, Transcription regulation
Gene summary (Entrez)i 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 family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
TBX5-201
ENSP00000309913
ENST00000310346
Q99593
[Direct mapping] T-box transcription factor TBX5
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Immunoglobulin fold
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000785 [chromatin]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001708 [cell fate specification]
GO:0003163 [sinoatrial node development]
GO:0003166 [bundle of His development]
GO:0003167 [atrioventricular bundle cell differentiation]
GO:0003218 [cardiac left ventricle formation]
GO:0003281 [ventricular septum development]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007267 [cell-cell signaling]
GO:0007389 [pattern specification process]
GO:0007507 [heart development]
GO:0008285 [negative regulation of cell population proliferation]
GO:0010719 [negative regulation of epithelial to mesenchymal transition]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0032991 [protein-containing complex]
GO:0032993 [protein-DNA complex]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0060039 [pericardium development]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060371 [regulation of atrial cardiac muscle cell membrane depolarization]
GO:0060928 [atrioventricular node cell development]
GO:0060929 [atrioventricular node cell fate commitment]
GO:0060980 [cell migration involved in coronary vasculogenesis]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0086019 [cell-cell signaling involved in cardiac conduction]
GO:0086054 [bundle of His cell to Purkinje myocyte communication by electrical coupling]
GO:1901846 [positive regulation of cell communication by electrical coupling involved in cardiac conduction]
GO:1903598 [positive regulation of gap junction assembly]
GO:1903781 [positive regulation of cardiac conduction]
Show all
 518 aa
57.7 kDa 		No 0
TBX5-202
ENSP00000337723
ENST00000349716
Q99593
[Direct mapping] T-box transcription factor TBX5
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Immunoglobulin fold
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000785 [chromatin]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001708 [cell fate specification]
GO:0003163 [sinoatrial node development]
GO:0003166 [bundle of His development]
GO:0003167 [atrioventricular bundle cell differentiation]
GO:0003218 [cardiac left ventricle formation]
GO:0003281 [ventricular septum development]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007267 [cell-cell signaling]
GO:0007389 [pattern specification process]
GO:0007507 [heart development]
GO:0008285 [negative regulation of cell population proliferation]
GO:0010719 [negative regulation of epithelial to mesenchymal transition]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0032991 [protein-containing complex]
GO:0032993 [protein-DNA complex]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0060039 [pericardium development]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060371 [regulation of atrial cardiac muscle cell membrane depolarization]
GO:0060928 [atrioventricular node cell development]
GO:0060929 [atrioventricular node cell fate commitment]
GO:0060980 [cell migration involved in coronary vasculogenesis]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0086019 [cell-cell signaling involved in cardiac conduction]
GO:0086054 [bundle of His cell to Purkinje myocyte communication by electrical coupling]
GO:1901846 [positive regulation of cell communication by electrical coupling involved in cardiac conduction]
GO:1903598 [positive regulation of gap junction assembly]
GO:1903781 [positive regulation of cardiac conduction]
Show all
 468 aa
52.7 kDa 		No 0
TBX5-203
ENSP00000384152
ENST00000405440
Q99593
[Direct mapping] T-box transcription factor TBX5
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Immunoglobulin fold
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000785 [chromatin]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001708 [cell fate specification]
GO:0002009 [morphogenesis of an epithelium]
GO:0003163 [sinoatrial node development]
GO:0003166 [bundle of His development]
GO:0003167 [atrioventricular bundle cell differentiation]
GO:0003181 [atrioventricular valve morphogenesis]
GO:0003197 [endocardial cushion development]
GO:0003218 [cardiac left ventricle formation]
GO:0003229 [ventricular cardiac muscle tissue development]
GO:0003281 [ventricular septum development]
GO:0003283 [atrial septum development]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription regulator complex]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006366 [transcription by RNA polymerase II]
GO:0007267 [cell-cell signaling]
GO:0007389 [pattern specification process]
GO:0007507 [heart development]
GO:0008285 [negative regulation of cell population proliferation]
GO:0010719 [negative regulation of epithelial to mesenchymal transition]
GO:0030324 [lung development]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0032991 [protein-containing complex]
GO:0032993 [protein-DNA complex]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0055007 [cardiac muscle cell differentiation]
GO:0060038 [cardiac muscle cell proliferation]
GO:0060039 [pericardium development]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060045 [positive regulation of cardiac muscle cell proliferation]
GO:0060371 [regulation of atrial cardiac muscle cell membrane depolarization]
GO:0060413 [atrial septum morphogenesis]
GO:0060928 [atrioventricular node cell development]
GO:0060929 [atrioventricular node cell fate commitment]
GO:0060980 [cell migration involved in coronary vasculogenesis]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0072513 [positive regulation of secondary heart field cardioblast proliferation]
GO:0086019 [cell-cell signaling involved in cardiac conduction]
GO:0086054 [bundle of His cell to Purkinje myocyte communication by electrical coupling]
GO:1901846 [positive regulation of cell communication by electrical coupling involved in cardiac conduction]
GO:1903598 [positive regulation of gap junction assembly]
GO:1903781 [positive regulation of cardiac conduction]
Show all
 518 aa
57.7 kDa 		No 0
TBX5-204
ENSP00000433292
ENST00000526441
Q99593
[Direct mapping] T-box transcription factor TBX5
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Immunoglobulin fold
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000785 [chromatin]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001708 [cell fate specification]
GO:0003163 [sinoatrial node development]
GO:0003166 [bundle of His development]
GO:0003167 [atrioventricular bundle cell differentiation]
GO:0003218 [cardiac left ventricle formation]
GO:0003281 [ventricular septum development]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007267 [cell-cell signaling]
GO:0007389 [pattern specification process]
GO:0007507 [heart development]
GO:0008285 [negative regulation of cell population proliferation]
GO:0010719 [negative regulation of epithelial to mesenchymal transition]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0032991 [protein-containing complex]
GO:0032993 [protein-DNA complex]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0060039 [pericardium development]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060371 [regulation of atrial cardiac muscle cell membrane depolarization]
GO:0060928 [atrioventricular node cell development]
GO:0060929 [atrioventricular node cell fate commitment]
GO:0060980 [cell migration involved in coronary vasculogenesis]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0086019 [cell-cell signaling involved in cardiac conduction]
GO:0086054 [bundle of His cell to Purkinje myocyte communication by electrical coupling]
GO:1901846 [positive regulation of cell communication by electrical coupling involved in cardiac conduction]
GO:1903598 [positive regulation of gap junction assembly]
GO:1903781 [positive regulation of cardiac conduction]
Show all
 349 aa
39.2 kDa 		No 0

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