TBX5 Gene Summary [Human]
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. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TBX5 |
| Official Name | T-box transcription factor 5 [Source:HGNC Symbol;Acc:HGNC:11604] |
| Ensembl ID | ENSG00000089225 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 5 |
| Synonyms | HOS, T-box 5, T-box transcription factor 5 |
| 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 TBX5 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
- transcription regulator
- nucleic acid binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- T-box
- double-stranded DNA binding
- DNA-binding domain of the T-box transcription factor family
- transcription factor activity
- T-box domain
Pathways
Biological processes and signaling networks where the TBX5 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrial fibrillation
- autosomal dominant polycystic kidney disease
- Holt-Oram syndrome
- aortic valve disease type 2
- arrhythmia
- Hutchinson-Gilford progeria syndrome
- lung adenocarcinoma
- lung adenocarcinoma formation
- atrial septal defect type 1
- mitral valve prolapse
role in cell
- expression in
- apoptosis
- proliferation
- transactivation in
- growth
- quantity
- differentiation
- migration
- transformation
- hypertrophy
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
- nuclear fraction
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBX5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of cardiac muscle cell proliferation
- cell migration involved in coronary vasculogenesis
- positive regulation of cardiac muscle cell proliferation
- negative regulation of cell proliferation
- transcription from RNA polymerase II promoter
- endocardial cushion development
- cell-cell signaling involved in cardiac conduction
- positive regulation of transcription from RNA polymerase II promoter
- atrioventricular node cell fate commitment
- embryonic limb morphogenesis
- heart development
- negative regulation of epithelial to mesenchymal transition
- positive regulation of transcription, DNA-dependent
- atrioventricular node cell development
- cell fate specification
- forelimb morphogenesis
- embryonic forelimb morphogenesis
- lung development
- regulation of atrial cardiomyocyte membrane depolarization
- atrioventricular valve morphogenesis
- ventricular septum development
- cell-cell signaling
- pattern specification process
- sinoatrial node development
- bundle of His development
- cardiac muscle cell proliferation
- atrioventricular bundle cell differentiation
- pericardium development
- atrial septum morphogenesis
- regulation of transcription from RNA polymerase II promoter
- positive regulation of cardioblast differentiation
- cardiac left ventricle formation
- morphogenesis of an epithelium
- positive regulation of secondary heart field cardioblast proliferation
- bundle of His cardiac muscle cell to Purkinje myocyte communication by electrical coupling
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- cytoplasm
- protein-DNA complex
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity