Format

Send to:

Choose Destination

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

Gene ID: 1910, updated on 11-Jun-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
NEW
Try the new Gene table
Try the new Transcript table

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 G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
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.
Support Center