TBX2 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 product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TBX2 |
| Official Name | T-box transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:11597] |
| Ensembl ID | ENSG00000121068 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 2 |
| Synonyms | T-box 2, T-box transcription factor 2, THROMBOXANE B2, VETD |
| 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 TBX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- DNA binding domain
- nucleic acid binding
- transcription factor binding
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
- Hdac1 binding domain
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- transcription repression domain
- T-box
- double-stranded DNA binding
- DNA-binding domain of the T-box transcription factor family
- T-box transcription factor
- transcription factor activity
- T-box domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- edema
- epithelial cancer
- epithelial neoplasia
- cancer
- urogenital cancer
- kidney stones
- breast carcinoma
- breast cancer
- breast or ovarian cancer
- vertebral anomalies and variable endocrine and T-cell dysfunction
role in cell
- expression in
- phosphorylation in
- proliferation
- apoptosis
- differentiation
- survival
- binding in
- quantity
- growth
- invasion
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
- nuclear foci
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial tube branching involved in lung morphogenesis
- positive regulation of cardiac muscle cell proliferation
- developmental growth involved in morphogenesis
- cellular senescence
- palate development
- endocardial cushion formation
- outflow tract morphogenesis
- fibroblast growth factor receptor signaling pathway
- neurogenesis
- positive regulation of transcription from RNA polymerase II promoter
- cardiac muscle tissue development
- embryonic digit morphogenesis
- outflow tract septum morphogenesis
- negative regulation of transcription from RNA polymerase II promoter
- endocardial cushion morphogenesis
- response to retinoic acid
- smooth muscle cell differentiation
- negative regulation of transcription, DNA-dependent
- apoptotic process
- heart looping
- ureteric peristalsis
- cell fate specification
- negative regulation of cellular senescence
- mammary placode formation
- cochlea morphogenesis
- regulation of heart contraction
- muscle cell fate determination
- pigment metabolic process involved in pigmentation
- embryonic heart tube development
- pharyngeal system development
- cardiac muscle cell myoblast differentiation
- regulation of transcription from RNA polymerase II promoter
- aorta morphogenesis
- Notch signaling pathway
- mesenchymal cell proliferation involved in lung development
- embryonic camera-type eye morphogenesis
- cellular response to dexamethasone stimulus
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- histone deacetylase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity