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Aliases for EDNRB Gene

Aliases for EDNRB Gene

  • Endothelin Receptor Type B 2 3 3 5
  • 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. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

GeneCards Summary for EDNRB Gene

EDNRB (Endothelin Receptor Type B) is a Protein Coding gene. Diseases associated with EDNRB include Waardenburg Syndrome, Type 4A and Abcd Syndrome. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (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 EDNRA.

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

Additional gene information for EDNRB Gene

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

Genomics for EDNRB Gene

GeneHancer (GH) Regulatory Elements for EDNRB Gene

Promoters and enhancers for EDNRB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J077910 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.2 +60.1 60136 10.3 PKNOX1 USF1 ZIC2 RAD21 ZNF335 GLIS2 POLR2A ZBTB48 PRDM10 ZBTB10 EDNRB LINC01069 RNF219-AS1 GC13M077919 GC13M077918 EDNRB-AS1
GH13J077974 Promoter/Enhancer 0.7 EPDnew ENCODE 650.7 -0.5 -504 2.3 EDNRB LINC01069 CLN5 RNF219-AS1
GH13J078021 Enhancer 1.2 Ensembl ENCODE dbSUPER 11 -46.8 -46817 1.5 PKNOX1 SMAD1 STAT5A BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 EDNRB LINC00446 PIR49322 RNF219-AS1
GH13J077831 Enhancer 1 VISTA Ensembl ENCODE 11.2 +142.5 142454 2.2 MITF RAD51 MAX EDNRB EDNRB-AS1 GC13M077919 GC13M077918
GH13J077896 Enhancer 1 Ensembl ENCODE 10.9 +77.9 77850 3.2 PKNOX1 JUN BACH1 STAT5A EBF1 BMI1 BATF IRF4 NFATC1 EED EDNRB GC13M077919 GC13M077918 EDNRB-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDNRB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EDNRB gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for EDNRB Gene

Genomic Locations for EDNRB Gene
80,049 bases
Minus strand
24,288 bases
Minus strand

Genomic View for EDNRB Gene

Genes around EDNRB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDNRB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Endothelin receptor type B
    Protein Accession:
    Secondary Accessions:
    • A2A2Z8
    • A8K3T4
    • O15343
    • Q59GB1
    • Q5W0G9
    • Q8NHM6
    • Q8NHM7
    • Q8NHM8
    • Q8NHM9
    • Q9UD23
    • Q9UQK3

    Protein attributes for EDNRB Gene

    442 amino acids
    Molecular mass:
    49644 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAD92435.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EDNRB Gene

    Alternative splice isoforms for EDNRB Gene


neXtProt entry for EDNRB Gene

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

No data available for DME Specific Peptides for EDNRB Gene

Domains & Families for EDNRB Gene

Gene Families for EDNRB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for EDNRB Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.
  • 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

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.
GENATLAS Biochemistry:
endothelin receptor B,G protein coupled receptor superfamily,homologous to murine piebald lethal

Phenotypes From GWAS Catalog for EDNRB Gene

Gene Ontology (GO) - Molecular Function for EDNRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 obsolete signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004962 endothelin receptor activity IMP,IEA 19767294
GO:0005515 protein binding IPI 23597562
GO:0017046 peptide hormone binding IPI 1713452
genes like me logo Genes that share ontologies with EDNRB: view
genes like me logo Genes that share phenotypes with EDNRB: view

Human Phenotype Ontology for EDNRB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDNRB Gene

MGI Knock Outs for EDNRB:

Animal Model Products

CRISPR Products

miRNA for EDNRB Gene

Clone Products

  • Addgene plasmids for EDNRB
  • R&D Systems cDNA Clones for EDNRB (EDNRB/Endothelin R Type B)

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. Note=internalized after activation by endothelins. {ECO:0000269 PubMed:28236341}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDNRB gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (1)
See all subcellular structures

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 IEA --
GO:0016021 integral component of membrane IEA --
GO:0031965 nuclear membrane IEA --
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

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 by RNA polymerase II ISS --
GO:0001755 neural crest cell migration IEA --
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006885 regulation of pH IEA --
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with EDNRB: view

Drugs & Compounds for EDNRB Gene

(66) Drugs for EDNRB Gene - From: DrugBank, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bosentan Approved, Investigational Pharma antagonist, Target 106
Macitentan Approved Pharma Target, antagonist Endothelin (ET)(A) and ET(B) receptor antagonist 43
Ambrisentan Approved, Investigational Pharma Antagonist, antagonist, Target ETA-receptor antagonist 0
Sitaxsentan Approved, Investigational, Withdrawn Pharma Antagonist, Target, antagonist Endothelin A (ETA) receptor antagonist 24
calcium Approved Nutra 0

(24) Additional Compounds for EDNRB Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Full agonist, Agonist

(5) Tocris Compounds for EDNRB Gene

Compound Action Cas Number
[Ala1,3,11,15]-Endothelin Selective ETB agonist 121204-87-3
BQ-3020 Selective ETB agonist 143113-45-5
IRL-1038 ETB antagonist 144602-02-8
IRL-1620 Highly selective ETB agonist 142569-99-1
Sarafotoxin S6c Selective ETB agonist 121695-87-2
genes like me logo Genes that share compounds with EDNRB: view

Transcripts for EDNRB Gene

mRNA/cDNA for EDNRB Gene

Unigene Clusters for EDNRB Gene

Endothelin receptor type B:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for EDNRB
  • R&D Systems cDNA Clones for EDNRB (EDNRB/Endothelin R Type B)

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

No ASD Table

Relevant External Links for EDNRB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EDNRB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for EDNRB Gene

Protein tissue co-expression partners for EDNRB Gene

NURSA nuclear receptor signaling pathways regulating expression of EDNRB Gene:


SOURCE GeneReport for Unigene cluster for EDNRB Gene:


mRNA Expression by UniProt/SwissProt for EDNRB Gene:

Tissue specificity: Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells.

Evidence on tissue expression from TISSUES for EDNRB Gene

  • Nervous system(4.8)
  • Lung(4.6)
  • Skin(4.6)
  • Heart(3.2)
  • Kidney(3.1)
  • Muscle(3.1)
  • Intestine(2.9)
  • Adrenal gland(2.6)
  • Liver(2.4)
  • Blood(2.3)
  • Eye(2.2)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EDNRB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • nose
  • pituitary gland
  • skull
  • breast
  • esophagus
  • duodenum
  • intestine
  • large intestine
  • small intestine
  • stomach
  • ovary
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vulva
  • lower limb
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns 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
(Pan troglodytes)
Mammalia EDNRB 34 33
  • 99.5 (n)
(Canis familiaris)
Mammalia EDNRB 34 33
  • 89.22 (n)
(Ornithorhynchus anatinus)
Mammalia EDNRB 34
  • 89 (a)
(Bos Taurus)
Mammalia EDNRB 34 33
  • 87.42 (n)
(Rattus norvegicus)
Mammalia Ednrb 33
  • 85.71 (n)
(Mus musculus)
Mammalia Ednrb 16 34 33
  • 85.49 (n)
(Monodelphis domestica)
Mammalia EDNRB 34
  • 85 (a)
(Gallus gallus)
Aves EDNRB 34 33
  • 76.96 (n)
(Anolis carolinensis)
Reptilia EDNRB 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ednrb 33
  • 66.26 (n)
(Danio rerio)
Actinopterygii ednrb1a 34 33
  • 71.27 (n)
ednrb1b 34
  • 61 (a)
-- 33
Species where no ortholog for EDNRB was found in the sources mined by GeneCards:
  • 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

Gene Tree for EDNRB (if available)
Gene Tree for EDNRB (if available)
Evolutionary constrained regions (ECRs) for EDNRB: view image

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 Variation AA Info Type
rs104894387 risk-factor, pathogenic, Hirschsprung disease 2, Waardenburg syndrome type 4A, Hirschsprung disease 2 (HSCR2) [MIM:600155] 77,901,181(-) C/A coding_sequence_variant, missense_variant
rs104894388 pathogenic, Waardenburg syndrome type 4A, Waardenburg syndrome 4A (WS4A) [MIM:277580] 77,903,543(-) G/C coding_sequence_variant, missense_variant
rs104894389 risk-factor, Hirschsprung disease 2 77,901,185(-) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs104894390 pathogenic, Waardenburg syndrome type 4A 77,903,200(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs104894391 pathogenic, ABCD syndrome 77,903,356(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv2669442 CNV deletion 23128226
esv2747694 CNV deletion 23290073
esv3632785 CNV loss 21293372
esv3632786 CNV loss 21293372

Variation tolerance for EDNRB Gene

Residual Variation Intolerance Score: 67.6% 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)

Additional Variant Information for EDNRB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for EDNRB Gene

MalaCards: The human disease database

(40) MalaCards diseases for EDNRB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
waardenburg syndrome, type 4a
  • ws4a
abcd syndrome
  • abcds
hirschsprung disease 2
  • hirschsprung disease, susceptibility to, 2
waardenburg's syndrome
  • waardenburg syndrome, type 4a
waardenburg syndrome, type 2e
  • ws2
- elite association - COSMIC cancer census association via MalaCards
Search EDNRB in MalaCards View complete list of genes associated with diseases


  • 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:11471546, ECO:0000269 PubMed:28236341, ECO:0000269 PubMed:8001158, ECO:0000269 PubMed:8630503, 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.
  • Note=Heterozygous mutations in EDNRB may be responsible for Waardenburg syndrome 2, an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances. {ECO:0000269 PubMed:28236341}.

Additional Disease Information for EDNRB

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

No data available for Genatlas for EDNRB Gene

Publications for EDNRB Gene

  1. Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan. (PMID: 18162831) Lin YC … Chang MH (Journal of pediatric gastroenterology and nutrition 2008) 3 22 44 58
  2. New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea. (PMID: 17011274) Kim JH … Seo JM (Journal of pediatric surgery 2006) 3 22 44 58
  3. Association between endothelin receptor B nonsynonymous variants and melanoma risk. (PMID: 16145050) Soufir N … Investigators of the Melan-Cohort (Journal of the National Cancer Institute 2005) 3 22 44 58
  4. 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 MG … Moore SW (Molecular and cellular probes 2003) 3 4 44 58
  5. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). (PMID: 8630503) Hofstra RM … Buys CH (Nature genetics 1996) 3 4 22 58

Products for EDNRB Gene

  • Addgene plasmids for EDNRB

Sources for EDNRB Gene

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