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Symbol TBX3 contributors: mct - updated : 28-09-2016
HGNC name T-box 3
HGNC id 11602
corresponding disease(s) UMS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in many cancers and in melanoma
tumoral     --over  
in malignant cells of primary breast cancer tissues
constitutional     --low  
affects multiple signaling pathways regulating second heart field proliferation and outflow tract morphogenesis, including fibroblast growth factor signaling, leading to a failure of normal heart tube extension and consequent atrioventricular and ventriculoarterial alignment defects
tumoral     --over  
contribute to metastasis in breast cancer
Variant & Polymorphism
Candidate gene may serve as a biomarker for breast cancer and have significant applications in both breast cancer diagnosis and treatment
Therapy target
  • Ectopic expression of Tbx3 in mice revealed that Tbx3 represses the atrial phenotype and imposes the pacemaker phenotype on the atria and the mice displayed arrhythmias and developed functional ectopic pacemakers
  • arrhythmias in Tbx3-deficient embryos are accompanied by disrupted expression of multiple ion channels despite preserved expression of previously described conduction system markers
  • Tbx3-deficient embryos developed outflow tract malformations and ventricular septal defects
  • mice lacking Tbx3 develop severe outflow tract defects, including connection of both the aorta and pulmonary trunk with the right ventricle, in addition to aortic arch artery anomalies and abnormal communication between the right atrium and left ventricle