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

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: mouse all
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Genomic context

Location:: 13q22.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (77895481..77975527, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (77120403..77200427, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (78469616..78549662, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.
Title: High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.
Women Have Greater Endothelin-B Receptor Function and Lower Mitochondrial Capacity Compared to Men With Type 1 Diabetes.
Title: Women Have Greater Endothelin-B Receptor Function and Lower Mitochondrial Capacity Compared to Men With Type 1 Diabetes.
MiRNA-19b-3p downregulates the endothelin B receptor in gastric cancer cells to prevent angiogenesis and proliferation.
Title: MiRNA-19b-3p downregulates the endothelin B receptor in gastric cancer cells to prevent angiogenesis and proliferation.
Roles of Astrocytic Endothelin ETB Receptor in Traumatic Brain Injury.
Title: Roles of Astrocytic Endothelin ET(B) Receptor in Traumatic Brain Injury.
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Title: Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
High Glucose-Induced Cardiomyocyte Damage Involves Interplay between Endothelin ET-1/ETA/ETB Receptor and mTOR Pathway.
Title: High Glucose-Induced Cardiomyocyte Damage Involves Interplay between Endothelin ET-1/ET(A)/ET(B) Receptor and mTOR Pathway.
Endothelin B Receptor Immunodynamics in Pulmonary Arterial Hypertension.
Title: Endothelin B Receptor Immunodynamics in Pulmonary Arterial Hypertension.
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
Title: Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Title: A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.
Title: Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (193)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S1461 (e-PCR)
- UniSTS:19751

RH68202 (e-PCR)
- UniSTS:75412

EDNRB_607 (e-PCR)
- UniSTS:277184

EDNRB_V15 (e-PCR)
- UniSTS:277184

G15922 (e-PCR)
- UniSTS:20417

RH68201 (e-PCR)
- UniSTS:72152

RH120654 (e-PCR)
- UniSTS:132595

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endothelin receptor activity	IBA Inferred from Biological aspect of Ancestor 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 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 aldosterone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
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 chordate pharynx development	IEA Inferred from Electronic Annotation more info
involved_in developmental pigmentation	IBA Inferred from Biological aspect of Ancestor more info
involved_in endothelin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor 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 establishment of endothelial barrier	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in heparin metabolic process	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 neuron maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
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 neuroblast 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 podocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	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 urine volume	IEA Inferred from Electronic Annotation more info
involved_in posterior midgut development	IEA Inferred from Electronic Annotation more info
involved_in protein transmembrane transport	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 heart rate	IEA Inferred from Electronic Annotation more info
involved_in regulation of pH	IEA Inferred from Electronic Annotation more info
involved_in renal albumin absorption	IEA Inferred from Electronic Annotation more info
involved_in renal sodium excretion	IEA Inferred from Electronic Annotation more info
involved_in renal sodium ion absorption	IEA Inferred from Electronic Annotation more info
involved_in renin secretion into blood stream	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 response to sodium phosphate	IEA Inferred from Electronic Annotation more info
involved_in vasoconstriction	IBA Inferred from Biological aspect of Ancestor 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 nuclear membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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

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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

NG_011630.3 RefSeqGene

Range

60893..84237

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000115.5 → NP_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:102 → 397

7tmA_ET-BR; endothelin B receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001122659.3 → NP_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:102 → 397

7tmA_ET-BR; endothelin B receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001201397.2 → NP_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:208 → 474

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:202 → 489

7tm_4; Olfactory receptor
NM_003991.4 → NP_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:102 → 397

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

77895481..77975527 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

77120403..77200427 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_047024.1: Suppressed sequence

Description

NR_047024.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.