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

    Gene ID: 1910, updated on 7-Dec-2018

    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 Jun 15 11:32:44 2016

    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 details...Open this link in a new tab

    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.
    Support Center