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Aliases for EDNRB Gene

Aliases for EDNRB Gene

  • Endothelin Receptor Type B 2 3
  • Endothelin Receptor Non-Selective Type 3 4
  • ET-BR 3 4
  • ET-B 3 4
  • ETRB 3 4
  • Endothelin Receptor Subtype B1 3
  • ABCDS 3
  • HSCR2 3
  • ETB1 3
  • ETBR 3
  • WS4A 3
  • HSCR 3
  • ETB 3

External Ids for EDNRB Gene

Previous HGNC Symbols for EDNRB Gene

  • HSCR2
  • HSCR

Previous GeneCards Identifiers for EDNRB Gene

  • GC13M076437
  • GC13M072464
  • GC13M077406
  • GC13M076267
  • GC13M077367
  • GC13M078469
  • GC13M059168

Summaries for EDNRB Gene

Entrez Gene Summary for EDNRB Gene

  • 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for EDNRB Gene

EDNRB (Endothelin Receptor Type B) is a Protein Coding gene. Diseases associated with EDNRB include ednrb-related hirschsprung disease and hirschsprung disease 2. Among its related pathways are Signaling by GPCR and Pathways in cancer. GO annotations related to this gene include G-protein coupled receptor activity and type 1 angiotensin receptor binding. An important paralog of this gene is NMBR.

UniProtKB/Swiss-Prot for EDNRB Gene

  • Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.

Tocris Summary for EDNRB Gene

  • The endothelinB receptor (ETB receptor) is a member of the endothelin receptor group of G-protein-coupled receptors that also includes ETA. They are located primarily in vascular endothelial cells where they play a role in vasoconstriction, vasodilation and cell proliferation.

Gene Wiki entry for EDNRB Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDNRB Gene

Genomics for EDNRB Gene

Regulatory Elements for EDNRB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EDNRB Gene

Chromosome:
13
Start:
77,895,481 bp from pter
End:
77,975,529 bp from pter
Size:
80,049 bases
Orientation:
Minus strand

Genomic View for EDNRB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EDNRB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDNRB Gene

Proteins for EDNRB Gene

  • Protein details for EDNRB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24530-EDNRB_HUMAN
    Recommended name:
    Endothelin B receptor
    Protein Accession:
    P24530
    Secondary Accessions:
    • A2A2Z8
    • A8K3T4
    • O15343
    • Q59GB1
    • Q5W0G9
    • Q8NHM6
    • Q8NHM7
    • Q8NHM8
    • Q8NHM9
    • Q9UD23
    • Q9UQK3

    Protein attributes for EDNRB Gene

    Size:
    442 amino acids
    Molecular mass:
    49644 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD92435.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EDNRB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDNRB Gene

Proteomics data for EDNRB Gene at MOPED

Post-translational modifications for EDNRB Gene

  • Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405.
  • Glycosylation at Asn 59
  • Modification sites at PhosphoSitePlus

Other Protein References for EDNRB Gene

Antibody Products

  • R&D Systems Antibodies for EDNRB (EDNRB/Endothelin R Type B)

No data available for DME Specific Peptides for EDNRB Gene

Domains & Families for EDNRB Gene

Gene Families for EDNRB Gene

Suggested Antigen Peptide Sequences for EDNRB Gene

Graphical View of Domain Structure for InterPro Entry

P24530

UniProtKB/Swiss-Prot:

EDNRB_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.
genes like me logo Genes that share domains with EDNRB: view

Function for EDNRB Gene

Molecular function for EDNRB Gene

GENATLAS Biochemistry:
endothelin receptor B,G protein coupled receptor superfamily,homologous to murine piebald lethal
UniProtKB/Swiss-Prot Function:
Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.

Gene Ontology (GO) - Molecular Function for EDNRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity --
GO:0004962 endothelin receptor activity IMP 19767294
GO:0005515 protein binding IPI 23597562
GO:0017046 peptide hormone binding IPI 1713452
GO:0031702 type 1 angiotensin receptor binding --
genes like me logo Genes that share ontologies with EDNRB: view
genes like me logo Genes that share phenotypes with EDNRB: view

Animal Models for EDNRB Gene

MGI Knock Outs for EDNRB:

Animal Model Products

CRISPR Products

miRNA for EDNRB Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDNRB

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EDNRB Gene

Localization for EDNRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDNRB Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EDNRB Gene COMPARTMENTS Subcellular localization image for EDNRB gene
Compartment Confidence
plasma membrane 5
cytosol 2
endoplasmic reticulum 2
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EDNRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8810293
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0031965 nuclear membrane --
genes like me logo Genes that share ontologies with EDNRB: view

Pathways & Interactions for EDNRB Gene

genes like me logo Genes that share pathways with EDNRB: view

PCR Array Products

SIGNOR curated interactions for EDNRB Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EDNRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001755 neural crest cell migration --
GO:0001934 positive regulation of protein phosphorylation --
GO:0006885 regulation of pH --
GO:0007166 cell surface receptor signaling pathway TAS 8810293
genes like me logo Genes that share ontologies with EDNRB: view

Drugs & Compounds for EDNRB Gene

(51) Drugs for EDNRB Gene - From: NovoSeek, DGIdb, IUPHAR, Tocris, ApexBio, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bosentan Approved, Investigational Pharma antagonist, Target 99
MACITENTAN Approved Pharma Target, antagonist Endothelin (ET)(A) and ET(B) receptor antagonist 0
Sitaxentan Approved, Investigational, Withdrawn Pharma Target, antagonist 0
Azathioprine Approved Pharma 145
Dexamethasone Approved, Investigational Pharma Agonist 1806

(30) Additional Compounds for EDNRB Gene - From: NovoSeek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]ET-1
Full agonist, Agonist
RO4868443
Antagonist
[Ala1,3,11,15]-Endothelin
121204-87-3
BQ-3020
143113-45-5
IRL-1038
144602-02-8
genes like me logo Genes that share compounds with EDNRB: view

Drug Products

Transcripts for EDNRB Gene

Unigene Clusters for EDNRB Gene

Endothelin receptor type B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDNRB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDNRB Gene

No ASD Table

Relevant External Links for EDNRB Gene

GeneLoc Exon Structure for
EDNRB
ECgene alternative splicing isoforms for
EDNRB

Expression for EDNRB Gene

mRNA expression in normal human tissues for EDNRB Gene

Protein differential expression in normal tissues from HIPED for EDNRB Gene

This gene is overexpressed in Serum (53.0) and Spinal cord (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EDNRB Gene



SOURCE GeneReport for Unigene cluster for EDNRB Gene Hs.82002

mRNA Expression by UniProt/SwissProt for EDNRB Gene

P24530-EDNRB_HUMAN
Tissue specificity: Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells.
genes like me logo Genes that share expression patterns with EDNRB: view

Protein tissue co-expression partners for EDNRB Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EDNRB Gene

Orthologs for EDNRB Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDNRB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EDNRB 35
  • 87.42 (n)
  • 89.09 (a)
EDNRB 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EDNRB 35
  • 89.22 (n)
  • 89.59 (a)
EDNRB 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ednrb 35
  • 85.49 (n)
  • 89.12 (a)
Ednrb 16
Ednrb 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EDNRB 35
  • 99.5 (n)
  • 99.25 (a)
EDNRB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ednrb 35
  • 85.71 (n)
  • 89.12 (a)
oppossum
(Monodelphis domestica)
Mammalia EDNRB 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDNRB 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDNRB 35
  • 76.96 (n)
  • 85.05 (a)
EDNRB 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDNRB 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ednrb 35
  • 66.26 (n)
  • 65.04 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
ednrb1a 35
  • 71.27 (n)
  • 79.15 (a)
ednrb1a 36
  • 68 (a)
OneToMany
ednrb1b 36
  • 61 (a)
OneToMany
Species with no ortholog for EDNRB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDNRB Gene

ENSEMBL:
Gene Tree for EDNRB (if available)
TreeFam:
Gene Tree for EDNRB (if available)

Paralogs for EDNRB Gene

Paralogs for EDNRB Gene

(3) SIMAP similar genes for EDNRB Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EDNRB: view

Variants for EDNRB Gene

Sequence variations from dbSNP and Humsavar for EDNRB Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
VAR_003469 -
VAR_003470 Waardenburg syndrome 4A (WS4A)
VAR_003471 Hirschsprung disease 2 (HSCR2)
VAR_003472 Hirschsprung disease 2 (HSCR2)
VAR_003473 Hirschsprung disease 2 (HSCR2)

Structural Variations from Database of Genomic Variants (DGV) for EDNRB Gene

Variant ID Type Subtype PubMed ID
esv2747694 CNV Deletion 23290073
esv2669442 CNV Deletion 23128226

Variation tolerance for EDNRB Gene

Residual Variation Intolerance Score: 67.59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.17; 39.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDNRB Gene

HapMap Linkage Disequilibrium report
EDNRB
Human Gene Mutation Database (HGMD)
EDNRB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDNRB Gene

Disorders for EDNRB Gene

MalaCards: The human disease database

(31) MalaCards diseases for EDNRB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
ednrb-related hirschsprung disease
hirschsprung disease 2
  • aganglionic megacolon
abcd syndrome
  • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
waardenburg syndrome, type 4a
  • hirschsprung disease with pigmentary anomaly
hirschsprung disease 1
  • hirschsprung's disease
- elite association
Search EDNRB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EDNRB_HUMAN
  • ABCD syndrome (ABCDS) [MIM:600501]: An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. {ECO:0000269 PubMed:11891690}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hirschsprung disease 2 (HSCR2) [MIM:600155]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269 PubMed:8001158, ECO:0000269 PubMed:8630503, ECO:0000269 PubMed:8852659, ECO:0000269 PubMed:8852660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Waardenburg syndrome 4A (WS4A) [MIM:277580]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269 PubMed:12189494, ECO:0000269 PubMed:8634719}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EDNRB

Genetic Association Database (GAD)
EDNRB
Human Genome Epidemiology (HuGE) Navigator
EDNRB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDNRB
genes like me logo Genes that share disorders with EDNRB: view

No data available for Genatlas for EDNRB Gene

Publications for EDNRB Gene

  1. Upregulation of endothelin receptors A and B in the nitrofen induced hypoplastic lung occurs early in gestation. (PMID: 19851775) Dingemann J. … Puri P. (Pediatr. Surg. Int. 2010) 23 67
  2. Production and binding of endothelin-2 (EDN2) in the rat ovary: endothelin receptor subtype A (EDNRA)-mediated contraction. (PMID: 20450830) Bridges P.J. … Ko C. (Reprod. Fertil. Dev. 2010) 23 67
  3. Acute vardenafil administration improves bladder oxygenation in spontaneously hypertensive rats. (PMID: 19889145) Morelli A. … Maggi M. (J Sex Med 2010) 23 67
  4. Change in pharmacological effect of endothelin receptor antagonists in rats with pulmonary hypertension: role of ETB-receptor expression levels. (PMID: 19489130) Sauvageau S. … Dupuis J. (Pulm Pharmacol Ther 2009) 23 67
  5. Expression of endothelin system in neuroblastic tumors: close association of endothelin-1 and endothelin B receptor expression with differentiation of tumor cells. (PMID: 19536618) Hoshi N. … Suzuki T. (Med Mol Morphol 2009) 23 67

Products for EDNRB Gene

Sources for EDNRB Gene

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