EDNRA endothelin receptor type A [Homo sapiens (human)] - Gene

Summary

Official Symbol: EDNRAprovided by HGNC
Official Full Name: endothelin receptor type Aprovided by HGNC
Primary source: HGNC:HGNC:3179
See related: Ensembl:ENSG00000151617 MIM:131243; AllianceGenome:HGNC:3179
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: ETA; ET-A; ETAR; ETRA; MFDA; ETA-R; hET-AR
Summary: This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Expression: Broad expression in endometrium (RPKM 36.3), ovary (RPKM 19.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.22-q31.23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (147481097..147544954)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (150805228..150869037)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (148402249..148466106)

Chromosome 4 - NC_000004.12 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 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?

Microarray analysis demonstrates up-regulation of the endothelin-1 gene with compensatory down-regulation of the ETA receptor gene in human portal vein.
Title: Microarray analysis demonstrates up-regulation of the endothelin-1 gene with compensatory down-regulation of the ETA receptor gene in human portal vein.
Co-localization of the sodium-glucose co-transporter-2 channel (SGLT-2) with endothelin ETA and ETB receptors in human cardiorenal tissue.
Title: Co-localization of the sodium-glucose co-transporter-2 channel (SGLT-2) with endothelin ETA and ETB receptors in human cardiorenal tissue.
[Study of the clinical significance of ETAR mRNA expression in high-grade serous ovarian cancer and the inhibitory effect of ETAR derived fusion polypeptide on cancer progression].
Title: [Study of the clinical significance of ETAR mRNA expression in high-grade serous ovarian cancer and the inhibitory effect of ETAR derived fusion polypeptide on cancer progression].
Role of interleukin-6 and endothelin-1 receptors in enhanced melanocyte dendricity of facial spots and suppression of their ligands by niacinamide and tranexamic acid.
Title: Role of interleukin-6 and endothelin-1 receptors in enhanced melanocyte dendricity of facial spots and suppression of their ligands by niacinamide and tranexamic acid.
The interaction of beta-arrestin1 with talin1 driven by endothelin A receptor as a feature of alpha5beta1 integrin activation in high-grade serous ovarian cancer.
Title: The interaction of β-arrestin1 with talin1 driven by endothelin A receptor as a feature of α5β1 integrin activation in high-grade serous ovarian cancer.
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 A receptors contribute to senescence of brain microvascular endothelial cells.
Title: Endothelin A receptors contribute to senescence of brain microvascular endothelial cells.
Gender differences in genotypic distribution of endothelin-1 gene and endothelin receptor A gene in pulmonary hypertension associated with rheumatic mitral valve disease.
Title: Gender differences in genotypic distribution of endothelin-1 gene and endothelin receptor A gene in pulmonary hypertension associated with rheumatic mitral valve disease.
Association of polymorphisms in endothelin-1 and endothelin receptor a genes with vasovagal syncope.
Title: Association of polymorphisms in endothelin-1 and endothelin receptor a genes with vasovagal syncope.
Non-HLA antibodies targeting angiotensin II Type 1 receptor and endothelin-1 Type A receptors induce endothelial injury via beta2-arrestin link to mTOR pathway.
Title: Non-HLA antibodies targeting angiotensin II Type 1 receptor and endothelin-1 Type A receptors induce endothelial injury via β2-arrestin link to mTOR pathway.

Submit: New GeneRIF Correction See all GeneRIFs (173)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mandibulofacial dysostosis with alopecia MedGen: C4225349 OMIM: 616367 GeneReviews: Not available	Compare labs
Migraine with or without aura, susceptibility to, 1 MedGen: C3887485 OMIM: 157300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 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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Replication interactions

Interaction	Pubs
Knockdown of endothelin receptor type A (EDNRA) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl 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

SHGC-67921 (e-PCR)
- UniSTS:38684

RH48922 (e-PCR)
- UniSTS:50245

SHGC-53255 (e-PCR)
- UniSTS:1871

SHGC-59477 (e-PCR)
- UniSTS:25684

D18S1266 (e-PCR)
- UniSTS:45675

SHGC-59478 (e-PCR)
- UniSTS:11384

G10643 (e-PCR)
- UniSTS:52870

EDNRA_29 (e-PCR)
- UniSTS:276179

D4S3266 (e-PCR)
- UniSTS:1769

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	NAS Non-traceable Author Statement more info	PubMed
enables phosphatidylinositol phospholipase C activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in activation of adenylate cyclase activity	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in aorta development	IEA Inferred from Electronic Annotation more info
involved_in artery smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrial cardiac muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in axon extension	IEA Inferred from Electronic Annotation more info
involved_in axonogenesis involved in innervation	IEA Inferred from Electronic Annotation more info
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in branching involved in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cAMP/PKA signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cardiac chamber formation	IEA Inferred from Electronic Annotation more info
involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to follicle-stimulating hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to human chorionic gonadotropin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to luteinizing hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in cranial skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in developmental pigmentation	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic heart tube development	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in endothelin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in endothelin receptor signaling pathway involved in heart process	IEA Inferred from Electronic Annotation more info
involved_in enteric nervous system development	IEA Inferred from Electronic Annotation more info
involved_in establishment of endothelial barrier	IEA Inferred from Electronic Annotation more info
involved_in face development	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glomerular endothelium development	IEA Inferred from Electronic Annotation more info
involved_in glomerular filtration	IEA Inferred from Electronic Annotation more info
involved_in heparin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in left ventricular cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle process involved in oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in middle ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in neural crest cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in neuron remodeling	IEA Inferred from Electronic Annotation more info
involved_in noradrenergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in norepinephrine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in pharyngeal arch artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in podocyte apoptotic process	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 cation channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	TAS Traceable Author Statement more info	PubMed
involved_in protein transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of D-glucose transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization to cell leading edge	IEA Inferred from Electronic Annotation more info
involved_in renal albumin absorption	IEA Inferred from Electronic Annotation more info
involved_in renal sodium ion absorption	IEA Inferred from Electronic Annotation more info
involved_in respiratory gaseous exchange by respiratory system	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to acetylcholine	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	IEA Inferred from Electronic Annotation more info
involved_in semaphorin-plexin signaling pathway involved in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in smooth muscle contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in sodium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in sympathetic nervous system development	IEA Inferred from Electronic Annotation more info
involved_in sympathetic neuron axon guidance	IEA Inferred from Electronic Annotation more info
involved_in thyroid gland development	IEA Inferred from Electronic Annotation more info
involved_in vascular associated smooth muscle cell development	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

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: endothelin-1 receptor

Names: G protein-coupled receptor; endothelin receptor subtype A; endothelin-1-specific receptor

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_013343.1 RefSeqGene

Range

5181..69038

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166055.2 → NP_001159527.1 endothelin-1 receptor isoform b precursor

See identical proteins and their annotated locations for NP_001159527.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as ET-ARdelta3,4) lacks two alternate exons, resulting in the loss of an in-frame segment of the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AC093908, BQ006584, DA956937, S81545

Consensus CDS

CCDS54810.1

UniProtKB/Swiss-Prot

P25101

Related

ENSP00000351359.4, ENST00000358556.8

Conserved Domains (2) summary

cd14964
Location:83 → 107

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:81 → 271

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001354797.2 → NP_001341726.1 endothelin-1 receptor isoform d precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AC093908

Conserved Domains (2) summary

cd15975
Location:83 → 107

7tmA_ET-AR; TM helix 1 [structural motif]

cl28897
Location:81 → 182

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001957.4 → NP_001948.1 endothelin-1 receptor isoform a precursor

See identical proteins and their annotated locations for NP_001948.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as ET-AR) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AC093908, AK312812, BQ006584

Consensus CDS

CCDS3769.1

UniProtKB/Swiss-Prot

B2R723, B4E2V6, B7Z9G6, D3DP03, E7ER36, O43441, P25101, Q16432, Q16433, Q8TBH2

Related

ENSP00000498969.1, ENST00000651419.1

Conserved Domains (1) summary

cd15975
Location:81 → 380

7tmA_ET-AR; endothelin A (or endothelin-1) receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

RNA

NR_045958.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as ET-ARdelta4) lacks an internal exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC093908, BQ006584, DA956937, S63938, S81542

Related

ENST00000648866.1
NR_148963.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC093908
NR_148964.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC093908

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

147481097..147544954

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

150805228..150869037

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001256283.1: Suppressed sequence

Description

NM_001256283.1: This RefSeq was removed because currently there is insufficient support for the protein.