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

    Gene ID: 13618, updated on 23-Jun-2021

    Summary

    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; ETR-; ET-BR; ETR-b; Sox10; 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]
    Expression
    Broad expression in cerebellum adult (RPKM 11.7), CNS E11.5 (RPKM 11.1) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Ednrb in Genome Data Viewer
    Location:
    14 E2.3; 14 53.05 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (104052051..104083248, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (103814615..103844508, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 14 NC_000080.5 (104213842..104243390, complement)

    Chromosome 14 - NC_000080.7Genomic 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 RIKEN cDNA 4930518C04 gene Neighboring gene RIKEN cDNA 4930432J09 gene Neighboring gene predicted gene, 41238

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    endothelin receptor type B
    Names
    endothelin B receptor
    endothelin receptor non-selective type
    piebald

    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.

    mRNA and Protein(s)

    1. NM_001136061.2NP_001129533.1  endothelin receptor type B 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
      ENSMUSP00000022718.4, ENSMUST00000022718.11
      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_001276296.1NP_001263225.1  endothelin receptor type B 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
      Related
      ENSMUSP00000154806.2, ENSMUST00000227824.2
      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_007904.4NP_031930.1  endothelin receptor type B 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
      ENSMUSP00000126057.2, ENSMUST00000172237.2
      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

    RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      104052051..104083248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006518515.4XP_006518578.1  endothelin receptor type B isoform X1

      See identical proteins and their annotated locations for XP_006518578.1

      UniProtKB/Swiss-Prot
      P48302
      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
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