TBX6 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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
Details
| Type | Protein Coding |
| Official Symbol | TBX6 |
| Official Name | T-box transcription factor 6 [Source:HGNC Symbol;Acc:HGNC:11605] |
| Ensembl ID | ENSG00000149922 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 6 |
| Synonyms | rv, SCDO5, T-box 6, T-box transcription factor 6 |
| 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 TBX6 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
- 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
- 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
- spondylocostal dysostosis type 5
- multiple sclerosis
- hereditary disorder
role in cell
- differentiation
- activation in
- development
- maturation by
- specification
- degeneration in
- degeneration
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBX6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of neuron maturation
- signal transduction involved in regulation of gene expression
- mesoderm development
- anatomical structure morphogenesis
- negative regulation of sequence-specific DNA binding transcription factor activity
- vasculogenesis
- positive regulation of transcription from RNA polymerase II promoter
- mesodermal cell fate specification
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of neuron projection development
- heart looping
- cell fate specification
- somite rostral/caudal axis specification
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity