Gene
tbx2a
- ID
- ZDB-GENE-990917-4
- Name
- T-box transcription factor 2a
- Symbol
- tbx2a Nomenclature History
- Previous Names
-
- tbx-a
- tbxa
- zgc:85705
- Type
- protein_coding_gene
- Location
- Chr: 5 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 animal organ development and pharyngeal system development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in vertebral anomalies and variable endocrine and T-cell dysfunction. Is expressed in several structures, including digestive system; mesoderm; nervous system; pericardial region; and pronephros. Orthologous to human TBX2 (T-box transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 24 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7156816 (7 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| vertebral anomalies and variable endocrine and T-cell dysfunction | Alliance | Vertebral anomalies and variable endocrine and T-cell dysfunction | 618223 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018186 | Transcription factor, T-box, conserved site |
| Domain | IPR022582 | T-box transcription factor 2/3, transcription activation domain |
| Domain | IPR046360 | T-box transcription factor, DNA-binding domain |
| Domain | IPR048387 | T-box transcription factor 2/3, repressor domain |
| Family | IPR001699 | T-box transcription factor |
| Family | IPR002070 | Transcription factor, Brachyury |
| 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 2/3, repressor domain | T-box transcription factor 2/3, transcription activation domain | T-box transcription factor, DNA-binding domain | Transcription factor, Brachyury | Transcription factor, T-box, conserved site |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B0R122
|
686 | ||||||||
|
UniProtKB:A0A8M2BCU2
|
690 |
Interactions and Pathways
No data available
Plasmids
No data available