Gene
ednrbb
- ID
- ZDB-GENE-081105-182
- Name
- endothelin receptor type Bb
- Symbol
- ednrbb Nomenclature History
- Previous Names
-
- ednrb1b
- si:ch211-72k22.4 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable endothelin receptor activity. Predicted to act upstream of or within several processes, including G protein-coupled receptor signaling pathway; enteric nervous system development; and vasoconstriction. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in ABCD syndrome; Hirschsprung's disease; Waardenburg's syndrome (multiple); asthma; and pulmonary hypertension. Orthologous to human EDNRB (endothelin receptor type B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Tilghman et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ABCD syndrome | Alliance | ?ABCD syndrome | 600501 |
| Waardenburg syndrome type 4A | Alliance | Waardenburg syndrome, type 4A | 277580 |
| {Hirschsprung disease, susceptibility to, 2} | 600155 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Endothelin receptor B | Endothelin receptor family | GPCR, rhodopsin-like, 7TM | G protein-coupled receptor, rhodopsin-like |
|---|---|---|---|---|---|
|
UniProtKB:F1QPV3
|
363 | ||||
|
UniProtKB:F8W4E0
|
365 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
ednrbb-202
(1)
|
1351 nt |
Interactions and Pathways
No data available
Plasmids
No data available