TBX5 (gene)

TBX5
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2X6U, 2X6V, 4S0H, 5BQD
Identifiers
Aliases	TBX5, HOS, T-box 5, T-box transcription factor 5
External IDs	OMIM: 601620; MGI: 102541; HomoloGene: 160; GeneCards: TBX5; OMA:TBX5 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	114,408,442 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	120,023,284 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; cardiac muscle tissue of right atrium; ; buccal mucosa cell; ; right auricle of heart; ; lower lobe of lung; ; right ventricle; ; myocardium of left ventricle; ; visceral pleura; ; right lung; ; oocyte;
	Top expressed in
	Cardiac muscle tissue of myocardium; ; vena cava; ; sinus venosus; ; genital tubercle; ; primordial ventricle; ; human penis; ; inferior vena cava; ; urethra; ; superior vena cava; ; interatrial septum;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	sequence-specific DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor binding; protein binding; DNA-binding transcription factor activity; DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleoplasm; nucleus; protein-containing complex; protein-DNA complex; cytoplasm;
Biological process	pattern specification process; forelimb morphogenesis; ventricular cardiac muscle tissue development; regulation of transcription, DNA-templated; bundle of His development; lung development; endocardial cushion development; cardiac muscle cell differentiation; cell-cell signaling; transcription, DNA-templated; morphogenesis of an epithelium; atrial septum morphogenesis; multicellular organism development; negative regulation of cell migration; positive regulation of cardiac muscle cell proliferation; atrioventricular valve morphogenesis; cell migration involved in coronary vasculogenesis; embryonic limb morphogenesis; pericardium development; positive regulation of cardioblast differentiation; positive regulation of secondary heart field cardioblast proliferation; transcription initiation from RNA polymerase II promoter; negative regulation of cardiac muscle cell proliferation; atrial septum development; embryonic forelimb morphogenesis; negative regulation of epithelial to mesenchymal transition; negative regulation of cell population proliferation; cardiac left ventricle formation; ventricular septum development; heart development; positive regulation of transcription, DNA-templated; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	6910
	21388
	ENSG00000089225
	ENSMUSG00000018263
	Q99593
	P70326
	NM_181486; NM_000192; NM_080717; NM_080718
	NM_011537
	NP_000183; NP_542448; NP_852259
	NP_035667
	Wikidata
View/Edit Human	View/Edit Mouse

T-box transcription factor TBX5, (T-box protein 5) is a protein that in humans is encoded by the TBX5 gene. Abnormalities in the TBX5 gene can result in altered limb development, Holt-Oram syndrome, Tetra-amelia syndrome, and cardiac and skeletal problems.

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.

TBX5 is located on the long arm of chromosome 12. TBX5 produces a protein called T-box protein 5 that acts as a transcription factor. TBX5 is involved with forelimb and heart development. This gene impacts the early development of the forelimb by triggering fibroblast growth factor, FGF10.