TBX20 Gene Summary [Human]
This gene encodes 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. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | TBX20 |
| Official Name | T-box transcription factor 20 [Source:HGNC Symbol;Acc:HGNC:11598] |
| Ensembl ID | ENSG00000164532 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 20 |
| Synonyms | 9430010M06RIK, ASD4, T-box 20, T-box transcription factor 20, Tbx12 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TBX20 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- T-box
- nucleic acid binding
- double-stranded DNA binding
- DNA-binding domain of the T-box transcription factor family
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- transcription factor activity
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dilated cardiomyopathy
- coronary artery disease
- hypoplastic left heart syndrome
- myocardial infarction
- hereditary Wolff-Parkinson-White syndrome
- hypoplasia
- atrial septal defect 4
- right hypoplastic heart syndrome
- congenital heart disease
- failure of heart looping
role in cell
- apoptosis
- activation in
- proliferation
- differentiation
- development
- migration by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBX20 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- positive regulation of cardiac muscle cell proliferation
- atrioventricular valve development
- pulmonary valve formation
- endocardial cushion formation
- tricuspid valve development
- vasculogenesis
- positive regulation of transcription from RNA polymerase II promoter
- cardiac septum development
- dorsal/ventral pattern formation
- negative regulation of transcription from RNA polymerase II promoter
- endocardial cushion morphogenesis
- outflow tract septum morphogenesis
- positive regulation of epithelial to mesenchymal transition
- cardiac chamber formation
- negative regulation of transcription, DNA-dependent
- patterning of blood vessels
- muscle contraction
- heart looping
- endoderm formation
- cell fate specification
- cardiac muscle tissue morphogenesis
- aortic valve morphogenesis
- negative regulation of SMAD protein import into nucleus
- mesenchymal cell development
- positive regulation of cell cycle process
- blood circulation
- visceral motor neuron differentiation
- embryonic heart tube morphogenesis
- pulmonary vein morphogenesis
- atrial septum morphogenesis
- pericardium morphogenesis
- regulation of transcription from RNA polymerase II promoter
- cardiac right ventricle morphogenesis
- positive regulation of BMP signaling pathway
- positive regulation of apoptotic process
- foramen ovale closure
- lateral mesoderm formation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity