Gene
tbx22
- ID
- ZDB-GENE-090626-2
- Name
- T-box transcription factor 22
- Symbol
- tbx22 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 14 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. Predicted to be involved in cell fate specification; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in X-linked cleft palate with or without ankyloglossia and cleft palate. Is expressed in mandibular arch skeleton; maxilla; paraxial mesoderm; and stomodeum. Orthologous to human TBX22 (T-box transcription factor 22).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Abruzzo-Erickson syndrome | Alliance | ?Abruzzo-Erickson syndrome | 302905 |
| X-linked cleft palate with or without ankyloglossia | Alliance | Cleft palate with ankyloglossia | 303400 |
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:A0A2R8Q7R4
|
444 | |||||
|
UniProtKB:C7FDJ4
|
400 |
Interactions and Pathways
No data available
Plasmids
No data available