TBXT Gene Summary [Human]
The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]
Details
| Type | Protein Coding |
| Official Symbol | TBXT |
| Official Name | T-box transcription factor T [Source:HGNC Symbol;Acc:HGNC:11515] |
| Ensembl ID | ENSG00000164458 |
| Bio databases IDs | |
| Aliases | T-box transcription factor T |
| Synonyms | Bra, Brachy, BRACHYURY, brachyury, T-box transcription factor T, BraT, cou, D17Mit170, Low, Lr, me75, SAVA, T, T1, T-box transcription factor T, T BRACHYURY, TFT, Tl2, Tl3 |
| 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 TBXT 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 factor activity, sequence-specific DNA binding
- aminomethyltransferase
- transcription regulator
- T-box
- double-stranded DNA binding
- nucleic acid binding
- transcription co-repressor
- DNA-binding domain of the T-box transcription factor family
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- T-box domain
Pathways
Biological processes and signaling networks where the TBXT 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
- chordoma
- spine abnormality
- bone cancer
- neural tube defect
- conventional type chordoma
- spina bifida
- sacral agenesis with vertebral anomalies
- degeneration of lumbar intervertebral disc
role in cell
- proliferation
- expression in
- cell death
- apoptosis
- cell viability
- quantity
- differentiation
- transactivation in
- endothelialization
- conversion
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 TBXT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- anterior/posterior axis specification, embryo
- signal transduction
- mesoderm development
- negative regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of transcription from RNA polymerase II promoter
- cardiac muscle cell myoblast differentiation
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- heart morphogenesis
- somitogenesis
- mesoderm formation
- cell fate specification
- primitive streak formation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity