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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-1 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 Development Endothelin-1/EDNRA signaling and Peptide ligand-binding receptors. 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDNRA Gene

Genomics for EDNRA Gene

Regulatory Elements for EDNRA Gene

Enhancers for EDNRA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G147324 0.5 ENCODE 13.7 -154.9 -154878 2.8 GATA2 FOS ATF2 RAD21 EDNRA GC04P147327 LOC105377476
GH04G147480 0.7 ENCODE 8.7 +0.6 589 2.9 FEZF1 HIC1 SCRT2 PRDM10 ZNF600 ZBTB20 TCF7L2 SCRT1 ZNF263 STAT1 EDNRA GC04P147486
GH04G147359 1 Ensembl ENCODE 4.7 -119.3 -119310 4.5 CTCF FOXA2 JUN FEZF1 RAD21 ZNF121 ZFHX2 FOS ZNF600 MAFK EDNRA GC04P147361 RPL31P26
GH04G147453 0.7 FANTOM5 6.4 -27.2 -27207 0.3 ZSCAN4 CEBPB ZNF488 CEBPG ZSCAN21 ATF3 ZNF692 IKZF1 TRIM24 ZNF548 EDNRA TMEM184C PRMT5P1 RPL31P26
GH04G147491 0.7 Ensembl ENCODE 5.8 +11.8 11774 1.7 BHLHE40 FOXP2 NR2F2 EDNRA GC04P147493 ENSG00000280219
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDNRA on UCSC Golden Path with GeneCards custom track

Promoters for EDNRA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000174420 683 1601 FEZF1 HIC1 SCRT2 ZNF600 PRDM10 ZBTB20 TCF7L2 ZNF263 SCRT1 STAT1

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

Post-translational modifications for EDNRA Gene

  • Glycosylation at Asn29 and isoforms=2, 3, 462
  • Modification sites at PhosphoSitePlus

Other Protein References for EDNRA Gene

Antibody Products

  • R&D Systems Antibodies for EDNRA (EDNRA/Endothelin R Type A)
  • Santa Cruz Biotechnology (SCBT) Antibodies for EDNRA

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.

Gene Ontology (GO) - Molecular Function for EDNRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS 8702836
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004962 endothelin receptor activity NAS 8611157
GO:0005515 protein binding IPI 23597562
genes like me logo Genes that share ontologies with EDNRA: view
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

CRISPR Products

miRNA for EDNRA Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EDNRA
  • R&D Systems cDNA Clones for EDNRA (EDNRA/Endothelin R Type A)

Cell Line Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDNRA gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for EDNRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1326535
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane 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 branching involved in blood vessel morphogenesis IEA --
GO:0001666 response to hypoxia IEA --
GO:0001701 in utero embryonic development IEA --
GO:0006939 smooth muscle contraction NAS 9284755
GO:0007165 signal transduction TAS 1326535
genes like me logo Genes that share ontologies with EDNRA: view

Drugs & Compounds for EDNRA Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sitaxsentan Approved, Investigational, Withdrawn Pharma Antagonist, antagonist, Target Endothelin A (ETA) receptor antagonist 23
Bosentan Approved, Investigational Pharma antagonist, Target 104
Ambrisentan Approved, Investigational Pharma Antagonist, antagonist, Target ETA-receptor antagonist 0
Macitentan Approved Pharma Target, antagonist Endothelin (ET)(A) and ET(B) receptor antagonist 36
Aspirin Approved, Vet_approved Pharma Channel blocker, Target 1152

(52) Additional Compounds for EDNRA Gene - From: Novoseek and IUPHAR

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

(5) Tocris Compounds for EDNRA Gene

Compound Action Cas Number
BMS 182874 hydrochloride Highly selective, orally active non-peptide ETA antagonist 1215703-04-0
BQ-123 Selective ETA antagonist 136553-81-6
CI 1020 Highly selective, orally active ETA antagonist 162256-50-0
FR 139317 Highly potent, selective ETA antagonist 142375-60-8
Sulfisoxazole Endothelin ETA antagonist 127-69-5

(16) ApexBio Compounds for EDNRA Gene

Compound Action Cas Number
ACT-132577 ETA/ETB receptors antagonist 1103522-45-7
Atrasentan Endothelin antagonist receptor 173937-91-2
Atrasentan hydrochloride Endothelin antagonist receptor 195733-43-8
Avosentan ETA receptor antagonist 290815-26-8
BMS 182874 hydrochloride ETA antagonist 1215703-04-0
Bosentan 147536-97-8
Bosentan Hydrate 157212-55-0
BQ-123 Selective ETA receptor antagonist 136553-81-6
CI 1020 162256-50-0
Endothelin 3 (human, rat) 117399-93-6
FR 139317 142375-60-8
Macitentan Endothelin (ET)(A) and ET(B) receptor antagonist 441798-33-0
Sarafotoxin S6a 126738-34-9
Sarafotoxin S6b 116303-65-2
sitaxsentan Endothelin A (ETA) receptor antagonist 184036-34-8
Zibotentan (ZD4054) ETA receptor antagonist,potent and specific 186497-07-4
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

Clone Products

  • Addgene plasmids for EDNRA
  • R&D Systems cDNA Clones for EDNRA (EDNRA/Endothelin R Type A)

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of EDNRA Gene:

EDNRA

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.

Evidence on tissue expression from TISSUES for EDNRA Gene

  • Lung(4.5)
  • Nervous system(4.5)
  • Heart(2.9)
  • Muscle(2.9)
  • Blood(2.1)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EDNRA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with EDNRA: view

Primer 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 34 35
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia EDNRA 34 35
  • 92.88 (n)
cow
(Bos Taurus)
Mammalia EDNRA 34 35
  • 91.26 (n)
oppossum
(Monodelphis domestica)
Mammalia EDNRA 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDNRA 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ednra 34
  • 85.92 (n)
mouse
(Mus musculus)
Mammalia Ednra 34 16 35
  • 85.4 (n)
chicken
(Gallus gallus)
Aves EDNRA 34 35
  • 76.48 (n)
lizard
(Anolis carolinensis)
Reptilia EDNRA 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ednra 34
  • 71.64 (n)
Str.12889 34
African clawed frog
(Xenopus laevis)
Amphibia ednra-prov 34
zebrafish
(Danio rerio)
Actinopterygii ednraa 34 35
  • 68.08 (n)
ednrab 35
  • 63 (a)
OneToMany
Species where no ortholog for EDNRA was found in the sources mined by GeneCards:
  • 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
rs786205230 Pathogenic, Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367] 147,486,067(+) TATCT(A/T)TGTGG intron-variant, nc-transcript-variant, reference, missense
VAR_035758 A breast cancer sample
VAR_073789 Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367]
rs876657388 Pathogenic 147,539,823(+) GTCGA(A/G)AAGTG nc-transcript-variant, reference, missense
rs1000094171 -- 147,532,985(+) CTAGA(-/TGTG)TGTGT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2274849 CNV deletion 18987734
esv2728508 CNV deletion 23290073
nsv1123854 CNV deletion 24896259
nsv830109 CNV loss 17160897
nsv830110 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
EDNRA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDNRA

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

Disorders for EDNRA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mandibulofacial dysostosis with alopecia
  • mfda
migraine with or without aura 1
  • migraine
scarlet fever
  • scarlatina
systemic capillary leak syndrome
  • capillary leak syndrome
connective tissue disease
  • connective tissue disorder
- 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. Endothelin axis polymorphisms in patients with scleroderma. (PMID: 16947775) Fonseca C. … Abraham D. (Arthritis Rheum. 2006) 3 22 46 64
  2. Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension. (PMID: 14616768) Benjafield A.V. … Morris B.J. (Clin. Genet. 2003) 3 22 46 64
  3. Alternative RNA splicing of the human endothelin-A receptor generates multiple transcripts. (PMID: 8611157) Miyamoto Y. … Nakao K. (Biochem. J. 1996) 3 4 22 64
  4. Molecular characterization and regulation of the human endothelin receptors. (PMID: 8440682) Elshourbagy N.A. … Nambi P. (J. Biol. Chem. 1993) 3 4 22 64
  5. Cloning and chromosomal localization of a human endothelin ETA receptor. (PMID: 1659806) Cyr C. … Kris R. (Biochem. Biophys. Res. Commun. 1991) 2 3 4 64

Products for EDNRA Gene

  • Addgene plasmids for EDNRA

Sources for EDNRA Gene

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