Gene
twist1b
- ID
- ZDB-GENE-050417-357
- Name
- twist family bHLH transcription factor 1b
- Symbol
- twist1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Enables cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including circulatory system development; pharyngeal system development; and regulation of bone mineralization. Is expressed in several structures, including brain; cardiovascular system; cranial vault; mesoderm; and pharyngeal arch. Human ortholog(s) of this gene implicated in Sweeney-Cox syndrome; breast cancer (multiple); and synostosis (multiple). Orthologous to human TWIST1 (twist family bHLH transcription factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 26 figures from 18 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Yang et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| craniosynostosis 1 | Alliance | Craniosynostosis 1 | 123100 |
| Saethre-Chotzen syndrome | Alliance | Robinow-Sorauf syndrome | 180750 |
| Saethre-Chotzen syndrome | Alliance | Saethre-Chotzen syndrome with or without eyelid anomalies | 101400 |
| Sweeney-Cox syndrome | Alliance | Sweeney-Cox syndrome | 617746 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | E-box Binding Transcriptional Regulators | Helix-loop-helix DNA-binding domain superfamily | Myc-type, basic helix-loop-helix (bHLH) domain | Twist-related protein 1, basic helix-loop-helix domain |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3ATB8 | InterPro | 133 | ||||
| UniProtKB:A0A8M9PJG9 | InterPro | 142 | ||||
| UniProtKB:Q568M7 | InterPro | 169 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
twist1b-201
(1)
|
Ensembl | 1,215 nt | ||
| mRNA |
twist1b-202
(1)
|
Ensembl | 944 nt |
Interactions and Pathways
No data available
Plasmids
No data available