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FLASH GENE
Symbol EDNRA contributors: shn/npt/pgu - updated : 17-06-2013
HGNC name endothelin receptor type A
HGNC id 3179
Corresponding disease
MFDA mandibulofacial dysostosis with alopecia
Location 4q31.22      Physical location : 148.402.068 - 148.466.106
Synonym symbol(s) ETA, ETRA, ET1R, ETAR
DNA
TYPE functioning gene
STRUCTURE 64.20 kb     8 Exon(s)    1 Copie(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - D4S2998 - D4S1586 - EDNRA - D4S3031 - D4S3014 - qter
Physical map
GYPA 4q28.2-31.1 glycophorin A (includes MN blood group) LOC391703 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) HHIP 4q28-q32 hedgehog interacting protein LOC345041 4q31.21 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) APC10 4q31 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) ABCE1 4q31 ATP-binding cassette, sub-family E (OABP), member 1 HSHIN1 4q31.21 HIV-1 induced protein HIN-1 LOC389230 4 LOC389230 LOC152905 4q31.21 similar to Reticulon protein 3 (Neuroendocrine-specific protein-like 2) (NSP-like protein II) (NSPLII) FLJ13262 4q31.21 hypothetical protein FLJ13262 MADH1 4q28 MAD, mothers against decapentaplegic homolog 1 (Drosophila) DKFZP586M0622 LOC345045 4q31.21 similar to nuclear receptor coactivator 4; RET-activating gene ELE1 MMAA LOC152485 4q31.21 hypothetical protein LOC152485 LSM6 4q31.21 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) LOC345051 4q31.21 similar to MGC53273 protein DKFZP566M114 4q31.21 hypothetical protein DKFZp566M114 POU4F2 4q31.2 POU domain, class 4, transcription factor 2 NYD-SP14 4q31.21 NYD-SP14 protein EDNRA 4q31.21 endothelin receptor type A GTF2F2L 4q31 general transcription factor IIF, polypeptide 2-like FLJ10846 4q31.22 hypothetical protein FLJ10846 LOC90826 4q31.22 hypothetical protein BC004337 FLJ20896 4q31.22 hypothetical protein FLJ20896 NR3C2 4q31 nuclear receptor subfamily 3, group C, member 2 ASSP8 4q21-qter argininosuccinate synthetase pseudogene 8 LOC389231 4 LOC389231 LOC285423 4q31.22-q31.23 hypothetical gene supported by BC031092 MGC45428 4q31.23 hypothetical protein MGC45428 LRBA 4q31.22-q31.23 LPS-responsive vesicle trafficking, beach and anchor containing MAB21L2 4q31 mab-21-like 2 (C. elegans)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 3841 - 318 retinal arterioles, neural retinal tissue 2009 19151386
7 splicing 3678
8 splicing 4168 - 427 retinal arterioles, neural retinal tissue 2009 19151386
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   highly Homo sapiens
Digestiveintestinelarge intestinecaecum highly
Nervousbrain   highly Homo sapiens
Reproductivefemale systemuterus  highly
Urinarykidney   moderately Mus musculus
Visualeyeretina  lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmoothvessel   Homo sapiens
Nervouscentral    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousoligodendrocyte Homo sapiensFetal
cell lineage
cell lines mesangial cells, endothelial cells
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven transmembrane segments (7TM) receptor
  • conjugated PhosphoP , Other
    HOMOLOGY
    interspecies ortholog to ednra, Danio rerio
    ortholog to EDNRA, Pan troglodytes
    ortholog to Ednra, Rattus norvegicus
    ortholog to Ednra, Mus musculus
    Homologene
    FAMILY
  • G protein coupled receptor superfamily
  • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    text ETA receptor mRNA is expressed by the neural crest-derived ectomesenchymal cells of pharyngeal arches and cardiac outflow tissues
    basic FUNCTION
  • plays a role in potent and long-lasting vasoconstriction
  • mediates an increase in intracellular calcium and GnRH secretion
  • may enhance the proliferative potential of endometrial cells in a manner similar to that seen in vascular smooth muscle cells
  • EDNRA likely acts as a molecular mechanism by which HOXA10 promotes stromal cell growth and prostaglandin production in both the implantation window and decidua
  • endothelins, acting through EDNRA and/or EDNRB receptors, may play an important role in mediating pain resulting from activation of most trigeminal nerve branches
  • mediate the effect of EDN1 on total intracellular Ca2+ of human aortic vascular endothelial cells
  • plays an important role in the cerebrovascular physiology
  • play key roles in the maintenance of the vasculature by controlling the balance between vasoconstriction and vasodilation in response to hemodynamic stress
  • G-protein coupled receptor that mediates vasoconstriction of blood vessels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text receptor for endothelin-1
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HDAC7 and HTATIP
  • guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2)
  • G protein alpha-subunit 3
  • histone acetyltransferase Tip60 and the histone deacetylase HDAC7
  • EDN1 and EDN2 bind to EDNRA with an affinity two orders of magnitude higher than that of EDN3
  • interacting with COPS5, an EDNRA-interacting protein (negatively regulates whole cell and cell surface levels of EDNRA)
  • link between EDN1 and EDNRA and myelination during oligodendrocyte differentiation
  • EDN1 activation of EDNRA signalled through ARF6, which is crucial for lipolysis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MFDA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in papillary renal tumor specimens
    Susceptibility
  • to abnormal baroreflex sensitivity (BRS)
  • to migraine headache resistance
  • intracranial aneurysm (IA)
  • Variant & Polymorphism other
  • 231 A-G polymorphism increased risk of migraine
  • T allele of the EDNRA/C+1222T polymorphism is associated with a reduction in BRS
  • rs6841581 significantly associated with IA
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyacquired 
    use of clazosentan, a selective EDNRA antagonist with a predilection for the central nervous system, has demonstrated reduction in angiographically demonstrated vasospasm
    cancerreproductiveovary
    potential use of EDNRA and EGFR blockade as a new therapeutic opportunity for epithelial ovarian cancer treatment
    ANIMAL & CELL MODELS
  • mice deficient for endothelin receptorb ETA mimic the human conditions collectively termed CATCH 22 or velocardiofacial syndrome including severe craniofacial deformities and defects in the cardiovascular outflow trac t
  • Ednra-null embryonic hearts often demonstrate hypoplasia of the ventricular wall, low mitotic activity and decreased Tbx5 expression with reciprocal expansion of Tbx2 expression