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    Ednrb endothelin receptor type B [ Mus musculus (house mouse) ]

    Gene ID: 13618, updated on 2-Jul-2017
    Official Symbol
    Ednrbprovided by MGI
    Official Full Name
    endothelin receptor type Bprovided by MGI
    Primary source
    MGI:MGI:102720
    See related
    Ensembl:ENSMUSG00000022122
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ETb; ET-B; ET-BR; ETR-b; Sox10m1
    Summary
    This gene encodes a member of the G-protein coupled receptor family. It encodes a receptor for endothelins, peptides that are involved in vasocontriction. The encoded protein activates a phosphatidylinositol-calcium second messenger system and is required for the development of enteric neurons and melanocytes. Gene disruption causes pigmentation anomalies, deafness, and abnormal dilation of the colon due to defects of neural crest-derived cells. Mutations in this gene are found in the piebald mouse, and mouse models of Hirschsprung's disease and Waardenburg syndrome type 4. Renal collecting duct-specific gene deletion causes sodium retention and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
    Orthologs
    Location:
    14 E2.3; 14 53.05 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 14 NC_000080.6 (103814615..103844476, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 14 NC_000080.5 (104213842..104243390, complement)

    Chromosome 14 - NC_000080.6Genomic Context describing neighboring genes Neighboring gene SLAIN motif family, member 1 Neighboring gene SLAIN motif family, member 1, opposite strand Neighboring gene predicted gene, 35197 Neighboring gene predicted gene, 35116 Neighboring gene uncharacterized LOC102638761 Neighboring gene RIKEN cDNA 4930432J09 gene Neighboring gene predicted gene, 41238

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    G-protein coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    endothelin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endothelin receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endothelin receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    peptide hormone binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
     
    type 1 angiotensin receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    G-protein coupled receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cGMP-mediated signaling ISO
    Inferred from Sequence Orthology
    more info
     
    calcium-mediated signaling ISO
    Inferred from Sequence Orthology
    more info
     
    developmental pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endothelin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    enteric nervous system development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enteric nervous system development ISO
    Inferred from Sequence Orthology
    more info
     
    enteric smooth muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial fluid transport ISO
    Inferred from Sequence Orthology
    more info
     
    macrophage chemotaxis ISO
    Inferred from Sequence Orthology
    more info
     
    melanocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    melanocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cellular protein metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of neuron maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    neural crest cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peripheral nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phospholipase C-activating G-protein coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pigmentation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cytosolic calcium ion concentration ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of penile erection ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of renal sodium excretion ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of urine volume ISO
    Inferred from Sequence Orthology
    more info
     
    posterior midgut development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of blood pressure ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of fever generation ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of pH IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of sensory perception of pain ISO
    Inferred from Sequence Orthology
    more info
     
    response to lipopolysaccharide ISO
    Inferred from Sequence Orthology
    more info
     
    response to pain ISO
    Inferred from Sequence Orthology
    more info
     
    sensory perception of pain ISO
    Inferred from Sequence Orthology
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    vasoconstriction ISO
    Inferred from Sequence Orthology
    more info
     
    vasodilation ISO
    Inferred from Sequence Orthology
    more info
     
    vein smooth muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    endothelin B receptor
    Names
    endothelin receptor non-selective type
    piebald

    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.

    mRNA and Protein(s)

    1. NM_001136061.2NP_001129533.1  endothelin B receptor precursor

      See identical proteins and their annotated locations for NP_001129533.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC154670, AK083415, BB003851
      Consensus CDS
      CCDS27317.1
      UniProtKB/Swiss-Prot
      P48302
      Related
      ENSMUSP00000022718.3, ENSMUST00000022718.9
      Conserved Domains (2) summary
      pfam00001
      Location:118384
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:112399
      7tm_4; Olfactory receptor
    2. NM_001276296.1NP_001263225.1  endothelin B receptor precursor

      See identical proteins and their annotated locations for NP_001263225.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs compared to variant 2. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AK076426, AK083415, BB003851, BQ442271
      Consensus CDS
      CCDS27317.1
      UniProtKB/Swiss-Prot
      P48302
      Conserved Domains (2) summary
      pfam00001
      Location:118384
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:112399
      7tm_4; Olfactory receptor
    3. NM_007904.4NP_031930.1  endothelin B receptor precursor

      See identical proteins and their annotated locations for NP_031930.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AK085532, BB003851, BQ442271
      Consensus CDS
      CCDS27317.1
      UniProtKB/Swiss-Prot
      P48302
      Related
      ENSMUSP00000126057.1, ENSMUST00000172237.1
      Conserved Domains (2) summary
      pfam00001
      Location:118384
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:112399
      7tm_4; Olfactory receptor

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000080.6 Reference GRCm38.p4 C57BL/6J

      Range
      103814615..103844476 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006518515.2XP_006518578.1  endothelin B receptor isoform X1

      See identical proteins and their annotated locations for XP_006518578.1

      UniProtKB/Swiss-Prot
      P48302
      Conserved Domains (2) summary
      pfam00001
      Location:118384
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:112399
      7tm_4; Olfactory receptor
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