Gene
tbx6
- ID
- ZDB-GENE-020416-5
- Name
- T-box transcription factor 6
- Symbol
- tbx6 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II activating transcription factor binding activity; and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in several processes, including regulation of skeletal muscle tissue development; somatic motor neuron differentiation; and somitogenesis. Localizes to chromatin. Human ortholog(s) of this gene implicated in spondylocostal dysostosis. Is expressed in mesoderm; presumptive mesoderm; slow muscle cell; tail bud; and trunk. Orthologous to human TBX6 (T-box transcription factor 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 69 figures from 40 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu421 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 44 figures from 20 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spondylocostal dysostosis 5 | Alliance | Spondylocostal dysostosis 5 | 122600 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| scoliosis | tbx6sa38869/sa38869 | standard conditions | Lleras-Forero et al., 2020 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018186 | Transcription factor, T-box, conserved site |
| Domain | IPR046360 | T-box transcription factor, DNA-binding domain |
| Family | IPR001699 | T-box transcription factor |
| Homologous_superfamily | IPR008967 | p53-like transcription factor, DNA-binding domain superfamily |
| Homologous_superfamily | IPR036960 | T-box superfamily |
Domain Details Per Protein
| Protein | Length | p53-like transcription factor, DNA-binding domain superfamily | T-box superfamily | T-box transcription factor | T-box transcription factor, DNA-binding domain | Transcription factor, T-box, conserved site |
|---|---|---|---|---|---|---|
|
UniProtKB:Q8JIS6
|
874 |
Interactions and Pathways
No data available
Plasmids
No data available