TBX5

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]

TBX5 T-Box 5

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:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164).
Binds to the core DNA motif of NPPA promoter (PubMed:26926761).

Biological Process atrial septum morphogenesisIEA:Ensembl
Biological Process atrioventricular bundle cell differentiationISS:BHF-UCL
Biological Process atrioventricular node cell developmentISS:BHF-UCL
Biological Process atrioventricular node cell fate commitmentISS:BHF-UCL
Biological Process atrioventricular valve morphogenesisIEA:Ensembl
Biological Process bundle of His cell to Purkinje myocyte communication by electrical couplingISS:BHF-UCL
Biological Process bundle of His developmentISS:BHF-UCL
Biological Process cardiac left ventricle formationISS:BHF-UCL
Biological Process cardiac muscle cell proliferationIEA:Ensembl
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process cell migration involved in coronary vasculogenesisTAS:DFLAT1 Publication
Biological Process cell-cell signalingIDA:UniProtKB1 Publication
Biological Process cell-cell signaling involved in cardiac conductionISS:BHF-UCL
Biological Process embryonic forelimb morphogenesisIMP:UniProtKB1 Publication
Biological Process embryonic limb morphogenesisIMP:UniProtKB1 Publication
Biological Process endocardial cushion developmentIEA:Ensembl
Biological Process forelimb morphogenesisIMP:MGI2 Publications
Biological Process heart developmentIDA:UniProtKB1 Publication
Biological Process lung developmentIEA:Ensembl
Biological Process morphogenesis of an epitheliumIEA:Ensembl
Biological Process negative regulation of cardiac muscle cell proliferationIDA:UniProtKB1 Publication
Biological Process negative regulation of cell migrationIDA:UniProtKB1 Publication
Biological Process negative regulation of cell population proliferationIDA:UniProtKB2 Publications
Biological Process negative regulation of epithelial to mesenchymal transitionTAS:DFLAT1 Publication
Biological Process pattern specification processIBA:GO_Central1 Publication
Biological Process pericardium developmentIDA:UniProtKB1 Publication
Biological Process positive regulation of cardiac conductionISS:BHF-UCL
Biological Process positive regulation of cardiac muscle cell proliferationIEA:Ensembl
Biological Process positive regulation of cardioblast differentiationIDA:UniProtKB1 Publication
Biological Process positive regulation of cell communication by electrical coupling involved in cardiac conductionTAS:BHF-UCL1 Publication
Biological Process positive regulation of DNA-templated transcriptionIDA:UniProtKB5 Publications
Biological Process positive regulation of gap junction assemblyISS:BHF-UCL
Biological Process positive regulation of secondary heart field cardioblast proliferationIEA:Ensembl
Biological Process positive regulation of transcription by RNA polymerase IIIDA:UniProtKB1 Publication
Biological Process regulation of atrial cardiac muscle cell membrane depolarizationISS:BHF-UCL
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process sinoatrial node developmentISS:BHF-UCLBy Similarity
Biological Process transcription by RNA polymerase IIIEA:Ensembl
Biological Process ventricular septum developmentISS:BHF-UCL

Nucleus
Cytoplasm
Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention.

Holt-Oram syndrome (HOS):
Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.

Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention.