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
- 1 figure from Zada et al., 2022
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa13240 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Endothelin receptor family | GPCR, rhodopsin-like, 7TM | G-protein coupled endothelin receptor | G protein-coupled receptor, rhodopsin-like |
|---|---|---|---|---|---|
|
UniProtKB:A0A8N7T6W4
|
408 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ednrbb-201
(1)
|
Ensembl | 1,092 nt | ||
| mRNA |
ednrbb-202
(1)
|
Ensembl | 1,351 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-72K22 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_683473 (1) | |||
| Genomic | GenBank:BX248504 (1) | 126325 nt | ||
| Polypeptide | UniProtKB:A0A8N7T6W4 (1) | 408 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | EDNRB | 13 | Amino acid sequence comparison (1) |
- Zada, A., Kuil, L.E., de Graaf, B.M., Kakiailatu, N., Windster, J.D., Brooks, A.S., van Slegtenhorst, M., de Koning, B., Wijnen, R.M.H., Melotte, V., Hofstra, R.M.W., Brosens, E., Alves, M.M. (2022) TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction. Frontiers in cell and developmental biology. 10:901824
- Tilghman, J.M., Ling, A.Y., Turner, T.N., Sosa, M.X., Krumm, N., Chatterjee, S., Kapoor, A., Coe, B.P., Nguyen, K.H., Gupta, N., Gabriel, S., Eichler, E.E., Berrios, C., Chakravarti, A. (2019) Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. The New England Journal of Medicine. 380:1421-1432
- Braasch, I., Brunet, F., Volff, J.N., and Schartl, M. (2009) Pigmentation pathway evolution after whole-genome duplication in fish. Genome biology and evolution. 1:479-493
- Braasch, I., Volff, J.N., and Schartl, M. (2009) The endothelin system: evolution of vertebrate-specific ligand-receptor interactions by three rounds of genome duplication. Mol. Biol. Evol.. 26(4):783-799
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