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FLASH GENE

Symbol

TBX3

contributors: mct - updated : 28-09-2016

HGNC name	T-box 3
HGNC id	11602

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

UMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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

Susceptibility

Variant & Polymorphism

Candidate gene	may serve as a biomarker for breast cancer and have significant applications in both breast cancer diagnosis and treatment
Marker
Therapy target

ANIMAL & CELL MODELS

	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