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

Gene ID: 1910, updated on 4-Jan-2025

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
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Genomic context

See EDNRB in Genome Data Viewer
Location:
13q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (77895487..77975527, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (77120409..77200427, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (78469622..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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endothelin receptor activity  
enables endothelin receptor activity PubMed 
enables endothelin receptor activity PubMed 
enables peptide hormone binding PubMed 
enables protein binding PubMed 
enables type 1 angiotensin receptor binding  
Items 1 - 25 of 55
Process Evidence Code Pubs
involved_in aldosterone metabolic process  
involved_in cGMP-mediated signaling  
involved_in calcium ion transmembrane transport  
involved_in calcium-mediated signaling PubMed 
involved_in canonical Wnt signaling pathway  
involved_in cell surface receptor signaling pathway PubMed 
involved_in cellular response to lipopolysaccharide  
involved_in chordate pharynx development  
involved_in developmental pigmentation  
involved_in endothelin receptor signaling pathway  
involved_in endothelin receptor signaling pathway PubMed 
involved_in endothelin receptor signaling pathway PubMed 
involved_in enteric nervous system development  
involved_in enteric smooth muscle cell differentiation  
involved_in epithelial fluid transport  
involved_in establishment of endothelial barrier  
involved_in gene expression  
involved_in heparin metabolic process  
involved_in macrophage chemotaxis PubMed 
involved_in melanocyte differentiation  
involved_in negative regulation of adenylate cyclase activity PubMed 
involved_in negative regulation of apoptotic process  
involved_in negative regulation of neuron maturation  
involved_in negative regulation of protein metabolic process PubMed 
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in negative regulation of transcription by RNA polymerase II  
involved_in nervous system development PubMed 
involved_in neural crest cell migration  
involved_in neuroblast migration  
involved_in peripheral nervous system development  
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway  
involved_in podocyte differentiation  
involved_in positive regulation of canonical NF-kappaB signal transduction  
involved_in positive regulation of cell population proliferation  
involved_in positive regulation of cytosolic calcium ion concentration  
involved_in positive regulation of penile erection  
involved_in positive regulation of urine volume  
involved_in posterior midgut development  
involved_in protein transmembrane transport  
involved_in regulation of epithelial cell proliferation  
involved_in regulation of fever generation  
involved_in regulation of heart rate  
involved_in regulation of pH  
involved_in renal albumin absorption  
involved_in renal sodium excretion  
involved_in renal sodium ion absorption  
involved_in renin secretion into blood stream  
involved_in response to endothelin  
involved_in response to organic cyclic compound  
involved_in response to pain  
involved_in response to sodium phosphate  
involved_in vasoconstriction  
involved_in vasoconstriction PubMed 
involved_in vasodilation  
involved_in vein smooth muscle contraction PubMed 
Items 1 - 25 of 55
Component Evidence Code Pubs
located_in nuclear membrane  
is_active_in plasma membrane  
located_in plasma membrane PubMed 
located_in plasma membrane  

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)

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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.

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_2024_08

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
    77895487..77975527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    77120409..77200427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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