TBX15 Gene Summary [Human]
This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | TBX15 |
| Official Name | T-box transcription factor 15 [Source:HGNC Symbol;Acc:HGNC:11594] |
| Ensembl ID | ENSG00000092607 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 15 |
| Synonyms | de, mmTBx8, T-box 15, T-box transcription factor 15, TBX14, Tbx8 |
| 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 TBX15 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- T-box
- double-stranded DNA binding
- nucleic acid binding
- DNA-binding domain of the T-box transcription factor family
- protein homodimerization
- protein binding
- sequence-specific DNA binding
- 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
- androgenic alopecia
- organismal death
- soft palate dysplasia
- cousin syndrome
- hirsutism
- alopecia
- glioma
- glioma formation
- osteoarthritis
- male pattern hair loss
regulates
- DNA promoter
- DNA endogenous promoter
- RNA polymerase II
- ADAMTS2
role in cell
- differentiation
- transactivation in
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 TBX15 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription, DNA-dependent
- embryonic cranial skeleton morphogenesis
- cell fate specification
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein homodimerization 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 negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity