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

    Gene ID: 1910, updated on 2-Aug-2021

    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
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    Genomic context

    See EDNRB in Genome Data Viewer
    Location:
    13q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (77895481..77975527, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (78469616..78549662, 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 EDNRB antisense RNA 1 Neighboring gene VISTA enhancer hs1394 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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    ABCD syndrome
    MedGen: C1838099 OMIM: 600501 GeneReviews: Not available
    Compare labs
    Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
    GeneReviews: Not available
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    GeneReviews: Not available
    Hirschsprung disease 2
    MedGen: C1838564 OMIM: 600155 GeneReviews: Not available
    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

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    endothelin receptor type B
    Names
    Hirschsprung disease 2
    endothelin receptor non-selective type
    endothelin receptor subtype B1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011630.3 RefSeqGene

      Range
      60893..84237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000115.5NP_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)
      AL139002
      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, ENST00000646607.2
      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_003991.4NP_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)
      AL139002
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      77895481..77975527 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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