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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
  • ABCDS 3 6
  • HSCR2 3 6
  • ET-BR 3 4
  • WS4A 3 6
  • ET-B 3 4
  • ETRB 3 4
  • Endothelin B Receptor 3
  • ETBR 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 hirschsprung disease 2 and abcd syndrome. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include peptide hormone binding and endothelin receptor activity. 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 endothelin B 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 the vascular endothelial cells where they play a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. The human ETB receptor gene has been localized to chromosome 13 (13q22).

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

Genomic Location for EDNRB Gene

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 Asn59
  • Modification sites at PhosphoSitePlus

Other Protein References for EDNRB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for EDNRB Gene

Domains for EDNRB Gene

Gene Families for EDNRB Gene

HGNC:
  • EDNR :GPCR / Class A : Endothelin receptors
IUPHAR :

Suggested Antigen Peptide Sequences for EDNRB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P24530

UniProtKB/Swiss-Prot:

EDNRB_HUMAN :
  • P24530
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 IEA --
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 3
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 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 IEA --
genes like me logo Genes that share ontologies with EDNRB: view

Pathways for EDNRB Gene

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

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 IEA --
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006885 regulation of pH IEA --
GO:0007166 cell surface receptor signaling pathway TAS 8810293
genes like me logo Genes that share ontologies with EDNRB: view

Compounds for EDNRB Gene

(5) Tocris Compounds for EDNRB Gene

Compound Action Cas Number
BQ 788 sodium salt Selective ETB antagonist [156161-89-6]
BQ-3020 Selective ETB agonist [143113-45-5]
IRL-1038 ETB antagonist [144602-02-8]
IRL-2500 Potent ETB antagonist [169545-27-1]
Sarafotoxin S6c Selective ETB agonist [121695-87-2]

(1) HMDB Compounds for EDNRB Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Drugbank Compounds for EDNRB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Bosentan
147536-97-8 target antagonist
Sitaxentan
  • Sitaxsentan
210421-64-0 target antagonist

(13) IUPHAR Ligand for EDNRB Gene

Ligand Type Action Affinity Pubmed IDs
endothelin-3 Agonist Full agonist 11.5
[125I]ET-1 Agonist Full agonist 10.5
[125I]IRL1620 Agonist Full agonist 10.1
[125I]BQ3020 Agonist Full agonist 10
sarafotoxin S6c Agonist Full agonist 9.8
BQ 3020 Agonist Full agonist 9.7
[125I][Ala1,3,11,15]ET-1 Agonist Full agonist 9.7
[Ala1,3,11,15]ET-1 Agonist Full agonist 9.2
IRL 1620 Agonist Full agonist 8.7
A192621 Antagonist Antagonist 8.1
BQ788 Antagonist Antagonist 8
RO4868443 Antagonist Antagonist 7.2
IRL 2500 Antagonist Antagonist 7.2

(59) Novoseek inferred chemical compound relationships for EDNRB Gene

Compound -log(P) Hits PubMed IDs
sarafotoxin 90 29
bq788 89.2 23
bq123 88.5 23
bq 3020 84.1 5
irl 1620 81.2 4
genes like me logo Genes that share compounds with EDNRB: view

Transcripts for EDNRB Gene

Unigene Clusters for EDNRB Gene

Endothelin receptor type B:
Representative Sequences:

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

Integrated Proteomics: protein expression 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 expressions with EDNRB: view

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
chimpanzee
(Pan troglodytes)
Mammalia EDNRB 35
  • 99.5 (n)
  • 99.25 (a)
EDNRB 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia EDNRB 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDNRB 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ednrb 35
  • 85.71 (n)
  • 89.12 (a)
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

Selected 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
rs5345 - 77,918,554(-) AAGTC(A/T)GTGCG missense, reference
rs5346 - 77,918,525(-) TGGTT(C/T)TTGCC reference, missense
rs5347 - 77,918,240(-) TTGTG(G/T)TCGTG missense, reference
rs1050928 -- 77,918,610(-) CTGCG(C/G)AGCGG utr-variant-5-prime, synonymous-codon, reference
rs1050929 -- 77,918,475(-) CCGCC(C/T)GACAG synonymous-codon, reference

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

Relevant External Links for EDNRB Gene

HapMap Linkage Disequilibrium report
EDNRB
Human Gene Mutation Database (HGMD)
EDNRB
Locus Specific Mutation Databases (LSDB)
EDNRB

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

Disorders for EDNRB Gene

(3) OMIM Diseases for EDNRB Gene (131244)

UniProtKB/Swiss-Prot

EDNRB_HUMAN
  • 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.
  • 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.
  • 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.

(68) Novoseek inferred disease relationships for EDNRB Gene

Disease -log(P) Hits PubMed IDs
hirschsprung disease 89.9 70
shah-waardenburg syndrome 89 7
waardenburgs syndrome 85.6 3
staphylococcal scalded skin syndrome 74.6 3
hirschsprung disease 2 71.7 2

Relevant External Links for EDNRB

GeneTests
EDNRB
GeneReviews
EDNRB
Genetic Association Database (GAD)
EDNRB
Human Genome Epidemiology (HuGE) Navigator
EDNRB
genes like me logo Genes that share disorders with EDNRB: view

Publications for EDNRB Gene

  1. Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. (PMID: 12628594) Zaahl M.G. … Moore S.W. (Mol. Cell. Probes 2003) 3 4 23 48
  2. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah- Waardenburg syndrome). (PMID: 8630503) Hofstra R.M.W. … Buys C.H.C.M. (Nat. Genet. 1996) 3 4 23
  3. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. (PMID: 11891690) Verheij J.B. … Hofstra R.M. (Am. J. Med. Genet. 2002) 3 4 23
  4. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. (PMID: 8001158) Puffenberger E.G. … Chakravarti A. (Cell 1994) 3 4 23
  5. Association between glaucoma and gene polymorphism of endothelin type A receptor. (PMID: 15988412) Ishikawa K. … Mashima Y. (Mol. Vis. 2005) 3 23 48

Products for EDNRB Gene

Sources for EDNRB Gene

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