Gene
twist2
- ID
- ZDB-GENE-980526-235
- Name
- twist2
- Symbol
- twist2 Nomenclature History
- Previous Names
-
- dermo1
- zgc:101904 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have protein dimerization activity. Human ortholog(s) of this gene implicated in Barber-Say syndrome; ablepharon macrostomia syndrome; and focal dermal hypoplasia. Is expressed in several structures, including brain; cardiovascular system; mesoderm; notochord; and tail bud. Orthologous to human TWIST2 (twist family bHLH transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 32 figures from 16 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101904 (19 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ablepharon macrostomia syndrome | Alliance | Ablepharon-macrostomia syndrome | 200110 |
| Barber-Say syndrome | Alliance | Barber-Say syndrome | 209885 |
| Focal facial dermal dysplasia 3, Setleis type | 227260 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| ablepharon macrostomia syndrome | twist2zf3421/zf3421 (AB) | standard conditions | Zhao et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | 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:Q5XJI8
|
163 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
twist2-201
(1)
|
Ensembl | 1,227 nt |
Interactions and Pathways
No data available
Plasmids
No data available