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 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
- 4 figures from 3 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 | 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
|
543 |
Interactions and Pathways
No data available
Plasmids