Gene
tbx5a
- ID
- ZDB-GENE-991124-7
- Name
- T-box transcription factor 5a
- Symbol
- tbx5a Nomenclature History
- Previous Names
-
- tbx5.1
- tbx5
- zf-tbx5
- zTbx5
- etID310031.5 (1)
- heartstrings
- hst
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity; RNA polymerase II repressing transcription factor binding activity; and sequence-specific DNA binding activity. Involved in several processes, including appendage morphogenesis; cardiac muscle tissue regeneration; and heart development. Localizes to actin cytoskeleton and nucleus. Used to study Holt-Oram syndrome. Human ortholog(s) of this gene implicated in Holt-Oram syndrome. Is expressed in several structures, including eye; immature eye; mesoderm; pectoral fin; and pericardial region. Orthologous to human TBX5 (T-box transcription factor 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 154 figures from 95 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu790 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- 57 figures from 25 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Holt-Oram syndrome | Alliance | Holt-Oram syndrome | 142900 |
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:A0A8M9QDI3
|
492 | |||||
|
UniProtKB:Q9IAK8
|
492 |
Interactions and Pathways
No data available
Plasmids