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
- Is predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in cell fate specification; heart looping; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including regulation of skeletal muscle tissue development; somatic motor neuron differentiation; and somitogenesis. Located in chromatin. Is expressed in several structures, including margin; mesoderm; presumptive mesoderm; tail bud; and trunk. Human ortholog(s) of this gene implicated in spondylocostal dysostosis. Orthologous to human TBX6 (T-box transcription factor 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 67 figures from 38 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu421 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 37 figures from 18 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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | p53-like transcription factor, DNA-binding | T-box superfamily | Transcription factor, T-box | Transcription factor, T-box, conserved site |
|---|---|---|---|---|---|
|
UniProtKB:Q8JIS6
|
874 |
Interactions and Pathways
No data available
Plasmids
No data available