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

    Gene ID: 1910, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:3180
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    13q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (77895481..77975527, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (77120403..77200427, complement)
    105.20220307 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 putative UPF0607 protein ENSP00000383144 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:78237303-78237481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7846 Neighboring gene microRNA 3665 Neighboring gene SLAIN motif family member 1 Neighboring gene NANOG hESC enhancer GRCh37_chr13:78358462-78359034 Neighboring gene VISTA enhancer hs1394 Neighboring gene EDNRB antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:78425667-78426299 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:78427507-78428016 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:78428017-78428526 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    ABCD syndrome
    MedGen: C1838099 OMIM: 600501 GeneReviews: Not available
    Compare labs
    Hirschsprung disease, susceptibility to, 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 2022-02-07)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2022-02-07)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endothelin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 aldosterone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cGMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    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 chordate pharynx development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in developmental pigmentation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endothelin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    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 establishment of endothelial barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heparin metabolic process 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 neuron maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 neuroblast 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 podocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction 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 urine volume IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in posterior midgut development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein transmembrane transport 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 heart rate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of pH IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal albumin absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal sodium excretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal sodium ion absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renin secretion into blood stream 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 response to sodium phosphate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasoconstriction IBA
    Inferred from Biological aspect of Ancestor
    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 nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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
      A2A2Z8, A8K3T4, O15343, P24530, Q59GB1, Q5W0G9, Q8NHM6, Q8NHM7, Q8NHM8, Q8NHM9, Q9UD23, Q9UQK3
      UniProtKB/TrEMBL
      A0A2R8Y748
      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
      A2A2Z8, A8K3T4, O15343, P24530, Q59GB1, Q5W0G9, Q8NHM6, Q8NHM7, Q8NHM8, Q8NHM9, Q9UD23, Q9UQK3
      UniProtKB/TrEMBL
      A0A2R8Y748
      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_001201397.2NP_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)
      AL139002
      Consensus CDS
      CCDS55902.1
      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/TrEMBL
      A0A2R8Y748
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      77895481..77975527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      77120403..77200427 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.