EDNRB - endothelin receptor type B Gene
Also Known as ETB; ET-B; ETB1; ETBR; ETRB; HSCR; WS4A; ABCDS; ET-BR; HSCR2
Species: Homo sapiens
About EDNRB
This gene has 8 transcripts (splice variants), 263 orthologues, 15 paralogues and is associated with 9 phenotypes. Broad expression in placenta (RPKM 49.8), lung (RPKM 38.6) and 21 other tissues.
Summary
The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the Endothelin Receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
EDNRB Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001201397.1 | NP_001188326.1 | endothelin receptor type B isoform 3 |
| NM_000115.5 | NP_000106.1 | endothelin receptor type B isoform 1 precursor |
| NM_001122659.3 | NP_001116131.1 | endothelin receptor type B isoform 1 precursor |
| NR_047024.1 | ||
| NM_003991.4 | NP_003982.1 | endothelin receptor type B isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables endothelin receptor activity |
IDA
IDA: Inferred from direct assay
|
1713452 | GOA |
| enables endothelin receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
19767294 | GOA |
| enables peptide hormone binding |
IPI
IPI: Inferred from physical interaction
|
1713452 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
23597562 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in calcium-mediated signaling |
IMP
IMP: Inferred from mutant phenotype
|
28236341 | GOA |
| involved in endothelin receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
1713452 | GOA |
| involved in endothelin receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
19767294 | GOA |
| involved in macrophage chemotaxis |
IMP
IMP: Inferred from mutant phenotype
|
12207323 | GOA |
| involved in negative regulation of protein metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
19767294 | GOA |
| involved in negative regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
19767294 | GOA |
| involved in vasoconstriction |
IMP
IMP: Inferred from mutant phenotype
|
8982507 | GOA |
| involved in vein smooth muscle contraction |
IMP
IMP: Inferred from mutant phenotype
|
8982507 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
28236341 | GOA |
EDNRB Protein Structure
7tm_1: 7 transmembrane receptor (rhodopsin family) (118 - 384)
- 0
- 100
- 200
- 300
- 400
- 442 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
endothelin receptor type B |
|
|
EDNRB Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
EDNRB | P24530 | EDN1 | Homo sapiens | P05305 | 23597562 |
Recombinant EDNRB Proteins
| Art. -Nr. | Produktname | Accession | Reinheit |
|---|---|---|---|
| HY-P74180 | EDNRB/Endothelin Receptor Type B Protein, Human (HEK293, His) | P24530/NP_000106.1 (E27-K101) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P74181 | EDNRB/Endothelin Receptor Type B Protein, Human (HEK293, Fc) | P24530 (E27-K101) | ≥ 85%, as determined by reducing SDS-PAGE. |
EDNRB Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P83510 | Endothelin Receptor B Antibody (YA3255) | WB, IP | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Abcd Syndrome |
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
|
| Impetigo |
|
|
| Palmoplantar Keratoderma, Punctate Type Iii |
|
|
| Cystic Kidney Disease |
|
|
| Diaphragmatic Hernia, Congenital |
|
|
| Lentigines |
|
|
| Pulmonary Venoocclusive Disease |
|
|
| Optic Nerve Disease |
|
|
| Chronic Pulmonary Heart Disease |
|
|
| Piebald Trait |
|
|
| Mowat-Wilson Syndrome |
|
|
| Heart Disease |
|
|
| Waardenburg'S Syndrome |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
|
| Central Hypoventilation Syndrome, Congenital, 1 |
|
|
| Double Pterygium |
|
|
| Goldberg-Shprintzen Syndrome |
|
|
| Tietz Albinism-Deafness Syndrome |
|
|
| Melanoma |
|
|
| Hirschsprung Disease 1 |
|
|
| Aganglionosis, Total Intestinal |
|
|
| Sensorineural Hearing Loss |
|
|
| Olmsted Syndrome, X-Linked |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
|
| Waardenburg Syndrome, Type 3 |
|
|
| Ritter'S Disease |
|
|
| Waardenburg Syndrome, Type 2e |
|
|
| Multidrug-Resistant Tuberculosis |
|
|
| Staphyloenterotoxemia |
|
|
| Acute Poststreptococcal Glomerulonephritis |
|
|
| Night Blindness, Congenital Stationary, Type 1h |
|
|
| Intestinal Pseudo-Obstruction |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Waardenburg Syndrome, Type 4c |
|
|
| Coffin-Lowry Syndrome |
|
|
| Stroke, Ischemic |
|
|
| Constipation |
|
|
| Scarlet Fever |
|
|
| Waardenburg Syndrome, Type 2a |
|
|
| Prostate Cancer |
|
|
| Waardenburg Syndrome, Type 4a |
|
|
| Limited Scleroderma |
|
|
| Megacolon |
|
|
| Down Syndrome |
|
|
| Epilepsy, Familial Temporal Lobe, 6 |
|
|
| Hirschsprung Disease 2 |
|
|
| Podoconiosis |
|
|
| Acquired Color Blindness |
|
|
| Bullous Impetigo |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Hypertension, Essential |
|
|
| Sigmoid Disease |
|
|
| Pyoderma |
|
|
| Meningioma, Familial |
|
|
| Microcephaly |
|
|
| Gingival Overgrowth |
|
|
| Congenital Central Hypoventilation Syndrome |
|
|
| Intestinal Obstruction |
|
|
| Cochlear Disease |
|
|
| Hepatopulmonary Syndrome |
|
|
| Rare Genetic Deafness |
|
|
| Proctitis |
|
|
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
|
| Migraine With Aura |
|
|
| Commensal Bacterial Infectious Disease |
|
|
| Transient Refractive Change |
|
|
| Pulmonary Hypertension |
|
|
| Chromosome 17q12 Duplication Syndrome |
|
|
| Intracranial Berry Aneurysm |
|
|
| Waardenburg Syndrome, Type 2d |
|
|
| Pyomyositis |
|
|
| Waardenburg Syndrome, Type 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | EDNRB | MGD | MGI:102720 |
| Macaca mulatta | EDNRB | VGNC | VGNC:72160 |
| Bos taurus | EDNRB | VGNC | VGNC:28330 |
| Canis familiaris | EDNRB | VGNC | VGNC:40203 |
| Rattus norvegicus | EDNRB | RGD | RGD:2536 |
| Felis catus | EDNRB | VGNC | VGNC:61728 |
| Others | EDNRB | NCBI |