TBX20

TBX20 is a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. TBX20 is essential for heart development. Mutations in TBX20 are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy.

T-Box 20

Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.

Biological Process aortic valve morphogenesisIMP:BHF-UCL2 Publications
Biological Process atrial septum morphogenesisIMP:BHF-UCL3 Publications
Biological Process atrioventricular canal developmentISS:BHF-UCL
Biological Process atrioventricular valve developmentISS:BHF-UCL
Biological Process blood circulationIEA:Ensembl
Biological Process branching involved in blood vessel morphogenesisIEA:Ensembl
Biological Process cardiac chamber formationISS:BHF-UCL
Biological Process cardiac muscle tissue morphogenesisISS:BHF-UCL
Biological Process cardiac right ventricle morphogenesisISS:BHF-UCL
Biological Process cardiac septum developmentISS:BHF-UCL
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process cell population proliferationIEA:Ensembl
Biological Process dorsal/ventral pattern formationISS:BHF-UCL
Biological Process embryonic heart tube elongationIEA:Ensembl
Biological Process embryonic heart tube morphogenesisISS:BHF-UCL
Biological Process endocardial cushion formationISS:BHF-UCL
Biological Process endocardial cushion morphogenesisISS:BHF-UCL
Biological Process endoderm formationISS:BHF-UCL
Biological Process foramen ovale closureIMP:BHF-UCL1 Publication
Biological Process heart loopingISS:BHF-UCL
Biological Process lateral mesoderm formationISS:BHF-UCL
Biological Process mesenchymal cell developmentISS:BHF-UCL
Biological Process motor neuron migrationIEA:Ensembl
Biological Process muscle contractionIEA:Ensembl
Biological Process negative regulation of DNA-templated transcriptionISS:BHF-UCL
Biological Process negative regulation of SMAD protein complex assemblyIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIISS:BHF-UCL
Biological Process outflow tract septum morphogenesisIMP:BHF-UCL2 Publications
Biological Process pericardium morphogenesisISS:BHF-UCL
Biological Process positive regulation of BMP signaling pathwayISS:BHF-UCL
Biological Process positive regulation of cardiac muscle cell proliferationISS:BHF-UCL
Biological Process positive regulation of epithelial to mesenchymal transitionIEA:Ensembl
Biological Process pulmonary valve formationISS:BHF-UCL
Biological Process pulmonary vein morphogenesisIMP:BHF-UCL1 Publication
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process tricuspid valve developmentISS:BHF-UCL
Biological Process vasculogenesisIBA:GO_Central1 Publication
Biological Process visceral motor neuron differentiationISS:BHF-UCL

Nucleus

Atrial septal defect 4 (ASD4):
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.