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; Waardenburg's syndrome; and congenital central hypoventilation syndrome. Orthologous to human EDN3 (endothelin 3).
Genome Resources
Note
None
Comparative Information
Expression
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
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With edn3b Human Ortholog
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
Associated With edn3b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR019764 Endothelin-like toxin, conserved site
Domain IPR001928 Endothelin-like toxin
Family IPR020475 Endothelin
Domain Details Per Protein
Protein Length Endothelin Endothelin-like toxin Endothelin-like toxin, conserved site
UniProtKB:E9QFS0 153
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations