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EDNRB endothelin receptor type B [ Homo sapiens (human) ]

Gene ID: 1910, updated on 3-Mar-2019

Summary

Official Symbol
EDNRBprovided by HGNC
Official Full Name
endothelin receptor type Bprovided by HGNC
Primary source
HGNC:HGNC:3180
See related
Ensembl:ENSG00000136160 MIM:131244
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ETB; ET-B; ETB1; ETBR; ETRB; HSCR; WS4A; ABCDS; ET-BR; HSCR2
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]
Expression
Broad expression in placenta (RPKM 49.8), lung (RPKM 38.6) and 21 other tissues See more
Orthologs

Genomic context

See EDNRB in Genome Data Viewer
Location:
13q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (77895481..77975723, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (78469616..78549664, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene microRNA 3665 Neighboring gene SLAIN motif family member 1 Neighboring gene uncharacterized LOC112268121 Neighboring gene VISTA enhancer hs1394 Neighboring gene EDNRB antisense RNA 1 Neighboring gene EDNRB proximal promoter region Neighboring gene RNA, 7SL, cytoplasmic 810, pseudogene Neighboring gene EDNRB upstream promoter region Neighboring gene long intergenic non-protein coding RNA 1069 Neighboring gene long intergenic non-protein coding RNA 446

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
ABCD syndrome
MedGen: C1838099 OMIM: 600501 GeneReviews: Not available
Compare labs
Hirschsprung disease 2
MedGen: C1838564 OMIM: 600155 GeneReviews: Hirschsprung Disease Overview
Compare labs
Waardenburg syndrome type 4A
MedGen: C1848519 OMIM: 277580 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
NHGRI GWA Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat-linked intracellular third loop of the endothelin-1 type B receptor markedly enhances the endothelin-1 activation of ERK in the bone morphogenetic protein-2 receptor human pulmonary artery smooth muscle cells PubMed
matrix gag HIV-1 MA-induced capillary-like structure formation is partially mediated by the ET-1/ETB receptor axis in human primary lymph node-derived lymphatic endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
    Arf6 trafficking events, organism-specific biosystem
    Arf6 trafficking events
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • Endothelin Pathways, organism-specific biosystem (from WikiPathways)
    Endothelin Pathways, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
  • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
    Endothelins, organism-specific biosystem
    Endothelins
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Melanogenesis, organism-specific biosystem (from KEGG)
    Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • Melanogenesis, conserved biosystem (from KEGG)
    Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
    Peptide GPCRs, organism-specific biosystem
    Peptide GPCRs
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Prostaglandin Synthesis and Regulation, organism-specific biosystem (from WikiPathways)
    Prostaglandin Synthesis and Regulation, organism-specific biosystemA prostaglandin is any member of a group of lipid compounds that are derived enzymatically from fatty acids and have important functions in the animal body. Every prostaglandin contains 20 carbon ato...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endothelin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
endothelin receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 1 angiotensin receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
calcium-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
endothelin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
endothelin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
enteric nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
enteric smooth muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial fluid transport IEA
Inferred from Electronic Annotation
more info
 
macrophage chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of adenylate cyclase activity TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cellular protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system development IEA
Inferred from Electronic Annotation
more info
 
phospholipase C-activating G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of penile erection IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of renal sodium excretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of urine volume IEA
Inferred from Electronic Annotation
more info
 
posterior midgut development IEA
Inferred from Electronic Annotation
more info
 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of fever generation IEA
Inferred from Electronic Annotation
more info
 
regulation of pH IEA
Inferred from Electronic Annotation
more info
 
regulation of sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
response to endothelin IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
response to pain IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
vasoconstriction IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasodilation IEA
Inferred from Electronic Annotation
more info
 
vein smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
endothelin receptor type B
Names
endothelin receptor non-selective type
endothelin receptor subtype B1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011630.2 RefSeqGene

    Range
    4807..85049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000115.4NP_000106.1  endothelin receptor type B isoform 1 precursor

    See identical proteins and their annotated locations for NP_000106.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Both variants 1 and 3 encode protein. This variant represents the use of an upstream long terminal repeat (LTR) promoter and sequence, and results in placental-specific expression. (PMID: 11054415)
    Source sequence(s)
    AB209198, AL139002, D90402, H28710, S44866
    Consensus CDS
    CCDS9461.1
    UniProtKB/Swiss-Prot
    P24530
    Related
    ENSP00000493895.1, ENST00000646948.1
    Conserved Domains (1) summary
    cd15976
    Location:102397
    7tmA_ET-BR; endothelin B receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
  2. NM_001122659.3NP_001116131.1  endothelin receptor type B isoform 1 precursor

    See identical proteins and their annotated locations for NP_001116131.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode isoform 1.
    Source sequence(s)
    AL139002
    Consensus CDS
    CCDS9461.1
    UniProtKB/Swiss-Prot
    P24530
    Related
    ENSP00000493527.1, ENST00000646607.1
    Conserved Domains (1) summary
    cd15976
    Location:102397
    7tmA_ET-BR; endothelin B receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
  3. NM_001201397.1NP_001188326.1  endothelin receptor type B isoform 3

    See identical proteins and their annotated locations for NP_001188326.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AB209198, AF114165, D90402, H28710, S44866
    Consensus CDS
    CCDS55902.1
    UniProtKB/Swiss-Prot
    P24530
    UniProtKB/TrEMBL
    A0A024R638
    Related
    ENSP00000366416.4, ENST00000377211.8
    Conserved Domains (2) summary
    pfam00001
    Location:208474
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:202489
    7tm_4; Olfactory receptor
  4. NM_003991.3NP_003982.1  endothelin receptor type B isoform 2 precursor

    See identical proteins and their annotated locations for NP_003982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB209198, AK290699, D90402, H28710, S44866, X99250
    Consensus CDS
    CCDS45059.1
    UniProtKB/Swiss-Prot
    P24530
    UniProtKB/TrEMBL
    A0A024R645
    Related
    ENSP00000486202.1, ENST00000626030.1
    Conserved Domains (1) summary
    cd15976
    Location:102397
    7tmA_ET-BR; endothelin B receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    77895481..77975723 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_047024.1: Suppressed sequence

    Description
    NR_047024.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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