Gene
edn3b
- ID
- ZDB-GENE-090313-235
- Name
- endothelin 3b
- Symbol
- edn3b Nomenclature History
- Previous Names
-
- edn3
- si:dkey-211h10.1
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable endothelin B receptor binding activity and hormone activity. Acts upstream of or within melanocyte differentiation and pigment cell development. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in epidermis. Human ortholog(s) of this gene implicated in Hirschsprung's disease; Waardenburg syndrome type 4B; and Waardenburg's syndrome. Orthologous to human EDN3 (endothelin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Krauss et al., 2014
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Waardenburg syndrome type 4B | Alliance | Waardenburg syndrome, type 4B | 613265 |
| {Hirschsprung disease, susceptibility to, 4} | 613712 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Endothelin | Endothelin-like toxin | Endothelin-like toxin, conserved site |
|---|---|---|---|---|
|
UniProtKB:E9QFS0
|
153 |
Interactions and Pathways
No data available
Plasmids
No data available