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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
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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)

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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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