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 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 several processes, including enteric nervous system development; heart development; and kidney development. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including digestive system; mesoderm; nervous system; pericardial region; and pronephros. Human ortholog(s) of this gene implicated in atrial heart septal defect; heart septal defect; and vertebral anomalies and variable endocrine and T-cell dysfunction. Orthologous to human TBX2 (T-box transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 26 figures from 13 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 | Additional Resources | 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 | InterPro | 686 | ||||||||
| UniProtKB:A0A8M2BCU2 | InterPro | 690 |
Interactions and Pathways
No data available
Plasmids
No data available