TBX20

TBX20
Identifiers
Aliases	TBX20, T-box 20, ASD4, T-box transcription factor 20
External IDs	OMIM: 606061; MGI: 1888496; HomoloGene: 32476; GeneCards: TBX20; OMA:TBX20 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	35,254,100 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	24,685,599 bp
RNA expression pattern
	Top expressed in
	right auricle of heart; ; left ventricle; ; testicle; ; apex of heart; ; right coronary artery; ; gallbladder; ; left coronary artery; ; urinary bladder; ; ascending aorta; ; placenta;
	Top expressed in
	aortic valve; ; atrium; ; atrioventricular valve; ; endocardial cushion; ; myocardium; ; myocardium of ventricle; ; ascending aorta; ; umbilical cord; ; Cardiac muscle tissue of myocardium; ; iris;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; transcription coactivator activity; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; nucleus;
Biological process	cardiac septum development; pulmonary vein morphogenesis; muscle contraction; regulation of transcription, DNA-templated; negative regulation of SMAD protein complex assembly; aortic valve morphogenesis; outflow tract morphogenesis; cardiac muscle tissue morphogenesis; neuron migration; negative regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; blood circulation; transcription, DNA-templated; pulmonary valve formation; embryonic heart tube development; outflow tract septum morphogenesis; endocardial cushion morphogenesis; heart looping; endocardial cushion formation; atrial septum morphogenesis; multicellular organism development; positive regulation of transcription, DNA-templated; lateral mesoderm formation; positive regulation of cardiac muscle cell proliferation; visceral motor neuron differentiation; embryonic heart tube morphogenesis; aortic valve development; pericardium morphogenesis; branching involved in blood vessel morphogenesis; cardiac chamber formation; endoderm formation; cell population proliferation; negative regulation of transcription, DNA-templated; dorsal/ventral pattern formation; cardiac right ventricle morphogenesis; foramen ovale closure; tricuspid valve development; positive regulation of transcription by RNA polymerase II; embryonic heart tube elongation;
	Sources:Amigo / QuickGO
Orthologs
	57057
	57246
	ENSG00000164532
	ENSMUSG00000031965
	Q9UMR3
	Q9ES03
	NM_020417; NM_001077653; NM_001166220
	NM_001205085; NM_020496; NM_194263
	NP_001071121; NP_001159692
	NP_001192014; NP_065242; NP_919239
	Wikidata
View/Edit Human	View/Edit Mouse

TBX20 (gene) is a member of the T-box family that encodes the transcription factor TBX20. Studies in mouse, human and fruitfly have shown that this gene is essential for early heart development, adult heart function and yolk sac vasculature remodeling and has been associated with congenital heart diseases. Tbx20 was also shown to be required for migration of hindbrain motor neurons and in facial neurons was proposed to be a positive regulator of the non-canonical Wnt signaling pathway.

Tbx20 is a transcription factor that is essential for proper heart development in a growing fetus. Any mutations in this gene can result in various forms of congenital heart disease. One of the more serious examples is the presence of a septal defect. The interatrial septum is a piece of tissue that separates the left and right atria of the heart, which contain oxygenated and deoxygenated blood, respectively. In Tbx20 mutants, this divider does not form and results in deoxygenated blood flowing into the left atrium then left ventricle, which ships the blood to the organs and muscles. Since deoxygenated blood should not be delivered to the tissues, the result is cyanosis, or a bluish skin discoloration stemming from low oxygen concentration. Proper function of Tbx20 is essential because it controls other genes that regulate cardiomyocyte proliferation, such as Tbx2 and N-myc1. Cardiomyocytes are the basis for the correct architectural scheme of the heart, and if defects arise in these structures, proper heart development is likely unattainable.