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
- Involved in melanocyte differentiation and pigment cell development. Predicted to localize to extracellular region. Human ortholog(s) of this gene implicated in Hirschsprung's disease; Waardenburg syndrome type 4B; Waardenburg's syndrome; and congenital central hypoventilation syndrome. Is expressed in epidermis. 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