Gene
tbx2b
- ID
- ZDB-GENE-990726-27
- Name
- T-box transcription factor 2b
- Symbol
- tbx2b Nomenclature History
- Previous Names
-
- tbx-c
- tbx2
- tbxc
- fby
- hm:zeh1581 (1)
- lor
- zeh1581
- Type
- protein_coding_gene
- Location
- Chr: 15 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 several processes, including animal organ development; cell migration involved in gastrulation; and photoreceptor cell fate specification. 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 heart; immature eye; mesoderm; nervous system; and pronephros. Orthologous to human TBX2 (T-box transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 101 figures from 71 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55196 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 38 figures from 22 publications
- Cross-Species Comparison
- Alliance
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:Q7ZTU9
|
687 | ||||||||
UniProtKB:A0A8M6Z9K6
|
409 |
Interactions and Pathways
No data available
Plasmids
No data available