Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EDNRA Gene

Aliases for EDNRA Gene

  • Endothelin Receptor Type A 2 3 5
  • HET-AR 3 4
  • ETA-R 3 4
  • ET-A 3 4
  • ETRA 3 4
  • ETA 3 4
  • Endothelin-1-Specific Receptor 3
  • Endothelin Receptor Subtype A 3
  • G Protein-Coupled Receptor 3
  • Endothelin A Receptor 4
  • ETAR 3
  • MFDA 3

External Ids for EDNRA Gene

Previous GeneCards Identifiers for EDNRA Gene

  • GC04P149211
  • GC04P148777
  • GC04P148979
  • GC04P148759
  • GC04P148621
  • GC04P148401
  • GC04P144129

Summaries for EDNRA Gene

Entrez Gene Summary for EDNRA Gene

  • 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]

GeneCards Summary for EDNRA Gene

EDNRA (Endothelin Receptor Type A) is a Protein Coding gene. Diseases associated with EDNRA include mandibulofacial dysostosis with alopecia and migraine with or without aura 1. Among its related pathways are Signaling by GPCR and cAMP signaling pathway. GO annotations related to this gene include G-protein coupled receptor activity and endothelin receptor activity. An important paralog of this gene is EDNRB.

UniProtKB/Swiss-Prot for EDNRA Gene

  • Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.

Tocris Summary for EDNRA Gene

  • The endothelinA receptor (ETA receptor) is a member of the endothelin receptor group of G-protein-coupled receptors that also includes ETB. They are located primarily in the vascular smooth muscle where they play a role in vasoconstriction and cell proliferation.

Gene Wiki entry for EDNRA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDNRA Gene

Genomics for EDNRA Gene

Regulatory Elements for EDNRA Gene

Promoters for EDNRA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EDNRA on UCSC Golden Path with GeneCards custom track

Genomic Location for EDNRA Gene

Chromosome:
4
Start:
147,480,917 bp from pter
End:
147,544,954 bp from pter
Size:
64,038 bases
Orientation:
Plus strand

Genomic View for EDNRA Gene

Genes around EDNRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDNRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDNRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDNRA Gene

Proteins for EDNRA Gene

  • Protein details for EDNRA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25101-EDNRA_HUMAN
    Recommended name:
    Endothelin-1 receptor
    Protein Accession:
    P25101
    Secondary Accessions:
    • B2R723
    • B4E2V6
    • B7Z9G6
    • D3DP03
    • E7ER36
    • O43441
    • Q16432
    • Q16433
    • Q8TBH2

    Protein attributes for EDNRA Gene

    Size:
    427 amino acids
    Molecular mass:
    48722 Da
    Quaternary structure:
    • Interacts with HDAC7 and KAT5.

    Alternative splice isoforms for EDNRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDNRA Gene

Proteomics data for EDNRA Gene at MOPED

Post-translational modifications for EDNRA Gene

  • Glycosylation at Asn 29 and Asn 62
  • Modification sites at PhosphoSitePlus

Other Protein References for EDNRA Gene

Antibody Products

  • R&D Systems Antibodies for EDNRA (EDNRA/Endothelin R Type A)

No data available for DME Specific Peptides for EDNRA Gene

Domains & Families for EDNRA Gene

Gene Families for EDNRA Gene

Suggested Antigen Peptide Sequences for EDNRA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P25101

UniProtKB/Swiss-Prot:

EDNRA_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily.
genes like me logo Genes that share domains with EDNRA: view

Function for EDNRA Gene

Molecular function for EDNRA Gene

GENATLAS Biochemistry:
endothelin receptor A,with higher affinity to EDN1,G protein coupled receptor superfamily
UniProtKB/Swiss-Prot Function:
Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.
genes like me logo Genes that share phenotypes with EDNRA: view

Human Phenotype Ontology for EDNRA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDNRA Gene

MGI Knock Outs for EDNRA:

Animal Model Products

  • Taconic Biosciences Mouse Models for EDNRA

CRISPR Products

miRNA for EDNRA Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for EDNRA Gene

Localization for EDNRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDNRA Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EDNRA Gene COMPARTMENTS Subcellular localization image for EDNRA gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 4
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for EDNRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 1326535
GO:0016020 membrane IEA --
GO:0030315 T-tubule IEA --
genes like me logo Genes that share ontologies with EDNRA: view

Pathways & Interactions for EDNRA Gene

genes like me logo Genes that share pathways with EDNRA: view

SIGNOR curated interactions for EDNRA Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for EDNRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001569 patterning of blood vessels IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001821 histamine secretion IEA --
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0003094 glomerular filtration IEA --
genes like me logo Genes that share ontologies with EDNRA: view

Drugs & Compounds for EDNRA Gene

(86) Drugs for EDNRA Gene - From: Novoseek, DGIdb, IUPHAR, ApexBio, DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bosentan Approved, Investigational Pharma antagonist, Target 100
Macitentan Approved Pharma Target, antagonist Endothelin (ET)(A) and ET(B) receptor antagonist 29
Sitaxentan Approved, Investigational, Withdrawn Pharma Target, antagonist 0
Aspirin Approved Pharma Channel blocker, Target 1029
Sulfisoxazole Approved Pharma Endothelin ETA antagonist 1

(58) Additional Compounds for EDNRA Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]ET-1
Full agonist, Agonist
[<sup>125</sup>I]ET-2
Full agonist, Agonist
[<sup>18</sup>F]ET-1
Full agonist, Agonist
BMS 182874 hydrochloride
1215703-04-0
BQ-123
136553-81-6
genes like me logo Genes that share compounds with EDNRA: view

Drug Products

Transcripts for EDNRA Gene

Unigene Clusters for EDNRA Gene

Endothelin receptor type A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDNRA Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - - -
SP7: - -

Relevant External Links for EDNRA Gene

GeneLoc Exon Structure for
EDNRA
ECgene alternative splicing isoforms for
EDNRA

Expression for EDNRA Gene

mRNA expression in normal human tissues for EDNRA Gene

mRNA differential expression in normal tissues according to GTEx for EDNRA Gene

This gene is overexpressed in Cervix - Ectocervix (x5.0).

Protein differential expression in normal tissues from HIPED for EDNRA Gene

This gene is overexpressed in Ovary (37.7) and Seminal vesicle (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EDNRA Gene



SOURCE GeneReport for Unigene cluster for EDNRA Gene Hs.183713

mRNA Expression by UniProt/SwissProt for EDNRA Gene

P25101-EDNRA_HUMAN
Tissue specificity: Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels.
genes like me logo Genes that share expression patterns with EDNRA: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for EDNRA Gene

Orthologs for EDNRA Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDNRA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDNRA 35
  • 99.77 (n)
  • 100 (a)
EDNRA 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EDNRA 36
  • 95 (a)
OneToOne
EDNRA 35
  • 91.26 (n)
  • 94.61 (a)
dog
(Canis familiaris)
Mammalia EDNRA 35
  • 92.88 (n)
  • 94.84 (a)
EDNRA 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ednra 36
  • 92 (a)
OneToOne
Ednra 16
Ednra 35
  • 85.4 (n)
  • 92.27 (a)
oppossum
(Monodelphis domestica)
Mammalia EDNRA 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDNRA 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ednra 35
  • 85.92 (n)
  • 92.72 (a)
chicken
(Gallus gallus)
Aves EDNRA 36
  • 78 (a)
OneToOne
EDNRA 35
  • 76.48 (n)
  • 78.38 (a)
lizard
(Anolis carolinensis)
Reptilia EDNRA 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ednra-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ednra 35
  • 71.64 (n)
  • 74.08 (a)
Str.12889 35
zebrafish
(Danio rerio)
Actinopterygii ednraa 36
  • 64 (a)
OneToMany
ednrab 36
  • 63 (a)
OneToMany
ednraa 35
  • 68.08 (n)
  • 73.45 (a)
Species with no ortholog for EDNRA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDNRA Gene

ENSEMBL:
Gene Tree for EDNRA (if available)
TreeFam:
Gene Tree for EDNRA (if available)

Paralogs for EDNRA Gene

Paralogs for EDNRA Gene

(3) SIMAP similar genes for EDNRA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EDNRA: view

Variants for EDNRA Gene

Sequence variations from dbSNP and Humsavar for EDNRA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_035758 A breast cancer sample
VAR_073788 Mandibulofacial dysostosis with alopecia (MFDA)
VAR_073789 Mandibulofacial dysostosis with alopecia (MFDA)
rs5333 -- 147,539,885(+) CTTCA(C/T)TTAAG nc-transcript-variant, reference, synonymous-codon
rs5334 -- 147,539,921(+) AACGA(A/G)ATGGA nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for EDNRA Gene

Variant ID Type Subtype PubMed ID
nsv830109 CNV Loss 17160897
nsv880241 CNV Loss 21882294
nsv830110 CNV Loss 17160897
esv2274849 CNV Deletion 18987734
esv2728508 CNV Deletion 23290073

Variation tolerance for EDNRA Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDNRA Gene

HapMap Linkage Disequilibrium report
EDNRA
Human Gene Mutation Database (HGMD)
EDNRA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDNRA Gene

Disorders for EDNRA Gene

MalaCards: The human disease database

(19) MalaCards diseases for EDNRA Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EDNRA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EDNRA_HUMAN
  • Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367]: A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility. {ECO:0000269 PubMed:25772936}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EDNRA

Genetic Association Database (GAD)
EDNRA
Human Genome Epidemiology (HuGE) Navigator
EDNRA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDNRA
genes like me logo Genes that share disorders with EDNRA: view

No data available for Genatlas for EDNRA Gene

Publications for EDNRA Gene

  1. Cloning and chromosomal localization of a human endothelin ETA receptor. (PMID: 1659806) Cyr C. … Kris R. (Biochem. Biophys. Res. Commun. 1991) 2 3 4 67
  2. Selective endothelin A receptor antagonism with sitaxsentan for pulmonary arterial hypertension associated with connective tissue disease. (PMID: 17472992) Girgis R.E. … Barst R.J. (Ann. Rheum. Dis. 2007) 23 25 26
  3. Jab1 regulates levels of endothelin type A and B receptors by promoting ubiquitination and degradation. (PMID: 20034471) Nishimoto A. … Miwa S. (Biochem. Biophys. Res. Commun. 2010) 3 23
  4. Endothelin type A receptor (ETA) expression is regulated by HOXA10 in human endometrial stromal cells. (PMID: 20371740) Penna I.A. … Taylor H.S. (Reprod Sci 2010) 3 23
  5. Beta-arrestin links endothelin A receptor to beta-catenin signaling to induce ovarian cancer cell invasion and metastasis. (PMID: 19202075) RosanA^ L. … Bagnato A. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23

Products for EDNRA Gene

Sources for EDNRA Gene

Back to Top

Content