Gene
tbx4
- ID
- ZDB-GENE-991124-5
- Name
- T-box transcription factor 4
- Symbol
- tbx4 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within embryonic hindlimb morphogenesis and embryonic pelvic fin morphogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. Is expressed in diencephalon; mesoderm pelvic fin bud; pelvic fin bud; presumptive neural retina; and retina. Human ortholog(s) of this gene implicated in arthropathy and ischiocoxopodopatellar syndrome. Orthologous to human TBX4 (T-box transcription factor 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ischiocoxopodopatellar syndrome | Alliance | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | 147891 |
| Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome | 601360 |
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 | Additional Resources | 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:F1R688 | InterPro | 543 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids