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. Alterna... See more...

Aliases for EDNRB Gene

Aliases for EDNRB Gene

  • Endothelin Receptor Type B 2 3 4 5
  • Endothelin Receptor Non-Selective Type 3 4
  • ET-BR 3 4
  • ET-B 3 4
  • ETRB 3 4
  • Endothelin Receptor Subtype B1 3
  • Hirschsprung Disease 2 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 Hirschsprung Disease 2. 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 Summary 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 , Rfam classification 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
Score
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 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 500.2 +60.1 60105 10.4 USF1 ZIC2 ZBTB10 NR2F2 MYNN SP2 PHF8 ZBTB48 ZNF335 CTCF EDNRB LINC01069 OBI1-AS1 NONHSAG013824.2 lnc-MYCBP2-2 piR-31210-014
GH13J077974 Promoter/Enhancer 0.5 EPDnew ENCODE 500.7 -0.5 -504 2.3 EDNRB ENSG00000233379 LINC01069 CLN5 LINC00446 NONHSAG013824.2 OBI1-AS1
GH13J077831 Enhancer 1.3 VISTA FANTOM5 Ensembl ENCODE 11.2 +141.2 141228 7.4 RAD51 SPI1 NFE2 MITF TOE1 BHLHE40 MAX HNRNPK USF2 EDNRB LINC01069 RF00017-1455 EDNRB-AS1
GH13J078021 Enhancer 1 ENCODE dbSUPER 11 -46.8 -46817 1.5 ZBTB40 SP1 EP300 JUND RELA RCOR1 TRIM22 EZH2 BCL11A TCF12 RF00017-1457 EDNRB piR-50852-046 LINC00446 OBI1-AS1
GH13J077896 Enhancer 1 Ensembl ENCODE 11 +77.9 77850 3.2 ZBTB40 MEF2C TRIM22 BCL11A ARNT MEF2B NBN NR2F2 BATF ELF1 EDNRB NONHSAG013824.2 piR-31210-014 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EDNRB

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

Genomic Locations for EDNRB Gene

Genomic Locations for EDNRB Gene
chr13:77,895,481-77,975,529
(GRCh38/hg38)
Size:
80,049 bases
Orientation:
Minus strand
chr13:78,469,616-78,493,903
(GRCh37/hg19)
Size:
24,288 bases
Orientation:
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:
    P24530-EDNRB_HUMAN
    Recommended name:
    Endothelin receptor type B
    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; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EDNRB Gene

    Alternative splice isoforms for EDNRB Gene

    UniProtKB/Swiss-Prot:

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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for EDNRB

No data available for DME Specific Peptides for EDNRB Gene

Domains & Families for EDNRB Gene

Gene Families for EDNRB Gene

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

Protein Domains for EDNRB Gene

Blocks:
  • Endothelin receptor signature
  • Endothelin-B receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EDNRB Gene

GenScript: Design optimal peptide antigens:
  • Endothelin receptor non-selective type (EDNRB_HUMAN)
  • ETB1 protein (Q16261_HUMAN)
  • Endothelin receptor subtype B1 (Q7KZ00_HUMAN)

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

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: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
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

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

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

COMPARTMENTS
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 4
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 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:0005623 cell IEA --
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 --
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

Pathways by source for EDNRB Gene

1 GeneGo (Thomson Reuters) pathway for EDNRB Gene
  • Development EDNRB signaling
1 Qiagen pathway for EDNRB Gene
  • Endothelin-1 Signaling Pathway

SIGNOR curated interactions for EDNRB Gene

Activates:
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bosentan Approved, Investigational Pharma Target, antagonist 114
Macitentan Approved Pharma Target, antagonist Endothelin (ET)(A) and ET(B) receptor antagonist 49
Ambrisentan Approved, Investigational Pharma Antagonist, Target, antagonist ETA-receptor antagonist 61
Sitaxsentan Approved, Investigational, Withdrawn Pharma Antagonist, Target, antagonist Endothelin A (ETA) receptor antagonist 24
Calcium Approved Nutra 7884

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]ET-1
Full agonist, Agonist
RO4868443
Antagonist

(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

(15) ApexBio Compounds for EDNRB Gene

Compound Action Cas Number
[Ala1,3,11,15]-Endothelin 121204-87-3
ACT-132577 ETA/ETB receptors antagonist 1103522-45-7
Atrasentan Endothelin antagonist receptor 173937-91-2
Bosentan 147536-97-8
Bosentan Hydrate 157212-55-0
BQ-3020 ETB receptor agonist,potent and selective 143113-45-5
BQ-788 sodium salt ET B-receptor antagonist,potent and selective 156161-89-6
Endothelin 3 (human, rat) 117399-93-6
IRL-1038 144602-02-8
IRL-2500 169545-27-1
Macitentan Endothelin (ET)(A) and ET(B) receptor antagonist 441798-33-0
Sarafotoxin S6a 126738-34-9
Sarafotoxin S6b 116303-65-2
Sarafotoxin S6c 121695-87-2
Zibotentan (ZD4054) ETA receptor antagonist,potent and specific 186497-07-4
genes like me logo Genes that share compounds with EDNRB: view

Drug Products

Transcripts for EDNRB Gene

mRNA/cDNA for EDNRB Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for EDNRB

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

No ASD Table

Relevant External Links for EDNRB Gene

GeneLoc Exon Structure for
EDNRB

Expression for EDNRB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDNRB

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.

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
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • nose
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
Abdomen:
  • duodenum
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • lower limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia EDNRB 31 30
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EDNRB 31 30
  • 89.22 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDNRB 31
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EDNRB 31 30
  • 87.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ednrb 30
  • 85.71 (n)
mouse
(Mus musculus)
Mammalia Ednrb 17 31 30
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia EDNRB 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDNRB 31 30
  • 76.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDNRB 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ednrb 30
  • 66.26 (n)
zebrafish
(Danio rerio)
Actinopterygii ednrb1a 31 30
  • 71.27 (n)
OneToMany
ednrb1b 31
  • 61 (a)
OneToMany
-- 30
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

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

Paralogs for EDNRB Gene

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

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

Variants for EDNRB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDNRB Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
667231 Uncertain Significance: not specified 77,903,559(-) G/T MISSENSE_VARIANT
691481 Uncertain Significance: Hirschsprung disease 77,898,137(-) C/T THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
726166 Likely Benign: not provided 77,898,272(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
737700 Likely Benign: not provided 77,918,214(-) G/A SYNONYMOUS_VARIANT
740424 Likely Benign: not provided 77,903,243(-) T/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EDNRB Gene

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)
EDNRB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDNRB

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

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

- elite association - COSMIC cancer census association via MalaCards
Search EDNRB in MalaCards View complete list of genes associated with diseases

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: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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 41 54
  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 23 41 54
  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 23 41 54
  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 41 54
  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 23 54

Products for EDNRB Gene

  • Addgene plasmids for EDNRB

Sources for EDNRB Gene