Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EDNRA (endothelin receptor type A)

Identity

Alias_symbol (synonym)ET-A
ETA-R
hET-AR
Other aliasETA
ETAR
ETRA
MFDA
HGNC (Hugo) EDNRA
LocusID (NCBI) 1909
Atlas_Id 45792
Location 4q31.22  [Link to chromosome band 4q31]
Location_base_pair Starts at 147480917 and ends at 147544954 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)EDNRA   3179
Cards
Entrez_Gene (NCBI)EDNRA  1909  endothelin receptor type A
AliasesET-A; ETA; ETA-R; ETAR; 
ETRA; MFDA; hET-AR
GeneCards (Weizmann)EDNRA
Ensembl hg19 (Hinxton)ENSG00000151617 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151617 [Gene_View]  ENSG00000151617 [Sequence]  chr4:147480917-147544954 [Contig_View]  EDNRA [Vega]
ICGC DataPortalENSG00000151617
TCGA cBioPortalEDNRA
AceView (NCBI)EDNRA
Genatlas (Paris)EDNRA
WikiGenes1909
SOURCE (Princeton)EDNRA
Genetics Home Reference (NIH)EDNRA
Genomic and cartography
GoldenPath hg38 (UCSC)EDNRA  -     chr4:147480917-147544954 +  4q31.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EDNRA  -     4q31.22   [Description]    (hg19-Feb_2009)
GoldenPathEDNRA - 4q31.22 [CytoView hg19]  EDNRA - 4q31.22 [CytoView hg38]
ImmunoBaseENSG00000151617
Mapping of homologs : NCBIEDNRA [Mapview hg19]  EDNRA [Mapview hg38]
OMIM131243   157300   616367   
Gene and transcription
Genbank (Entrez)AF014826 AK304451 AK312812 AK315931 AY275462
RefSeq transcript (Entrez)NM_001166055 NM_001256283 NM_001354797 NM_001957
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EDNRA
Cluster EST : UnigeneHs.183713 [ NCBI ]
CGAP (NCI)Hs.183713
Alternative Splicing GalleryENSG00000151617
Gene ExpressionEDNRA [ NCBI-GEO ]   EDNRA [ EBI - ARRAY_EXPRESS ]   EDNRA [ SEEK ]   EDNRA [ MEM ]
Gene Expression Viewer (FireBrowse)EDNRA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1909
GTEX Portal (Tissue expression)EDNRA
Human Protein AtlasENSG00000151617-EDNRA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP25101   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP25101  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP25101
Splice isoforms : SwissVarP25101
PhosPhoSitePlusP25101
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)Endthln_rcpt    ETA_rcpt    GPCR_Rhodpsn    GPCR_Rhodpsn_7TM   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Conserved Domain (NCBI)EDNRA
DMDM Disease mutations1909
Blocks (Seattle)EDNRA
SuperfamilyP25101
Human Protein Atlas [tissue]ENSG00000151617-EDNRA [tissue]
Peptide AtlasP25101
HPRD00571
IPIIPI00434353   IPI00434354   IPI00434355   IPI00434356   IPI00874270   IPI00966192   
Protein Interaction databases
DIP (DOE-UCLA)P25101
IntAct (EBI)P25101
FunCoupENSG00000151617
BioGRIDEDNRA
STRING (EMBL)EDNRA
ZODIACEDNRA
Ontologies - Pathways
QuickGOP25101
Ontology : AmiGObranching involved in blood vessel morphogenesis  response to hypoxia  in utero embryonic development  phosphatidylinositol phospholipase C activity  endothelin receptor activity  protein binding  plasma membrane  integral component of plasma membrane  smooth muscle contraction  signal transduction  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  activation of adenylate cyclase activity  adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  activation of phospholipase C activity  positive regulation of cytosolic calcium ion concentration  heart development  respiratory gaseous exchange  regulation of blood pressure  cell proliferation  regulation of glucose transmembrane transport  neural crest cell development  artery smooth muscle contraction  vasoconstriction  enteric nervous system development  head development  endothelin receptor signaling pathway  
Ontology : EGO-EBIbranching involved in blood vessel morphogenesis  response to hypoxia  in utero embryonic development  phosphatidylinositol phospholipase C activity  endothelin receptor activity  protein binding  plasma membrane  integral component of plasma membrane  smooth muscle contraction  signal transduction  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  activation of adenylate cyclase activity  adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  activation of phospholipase C activity  positive regulation of cytosolic calcium ion concentration  heart development  respiratory gaseous exchange  regulation of blood pressure  cell proliferation  regulation of glucose transmembrane transport  neural crest cell development  artery smooth muscle contraction  vasoconstriction  enteric nervous system development  head development  endothelin receptor signaling pathway  
Pathways : KEGGCalcium signaling pathway    Neuroactive ligand-receptor interaction    Vascular smooth muscle contraction   
NDEx NetworkEDNRA
Atlas of Cancer Signalling NetworkEDNRA
Wikipedia pathwaysEDNRA
Orthology - Evolution
OrthoDB1909
GeneTree (enSembl)ENSG00000151617
Phylogenetic Trees/Animal Genes : TreeFamEDNRA
HOGENOMP25101
Homologs : HomoloGeneEDNRA
Homology/Alignments : Family Browser (UCSC)EDNRA
Gene fusions - Rearrangements
Fusion : QuiverEDNRA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDNRA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDNRA
dbVarEDNRA
ClinVarEDNRA
1000_GenomesEDNRA 
Exome Variant ServerEDNRA
ExAC (Exome Aggregation Consortium)ENSG00000151617
GNOMAD BrowserENSG00000151617
Varsome BrowserEDNRA
Genetic variants : HAPMAP1909
Genomic Variants (DGV)EDNRA [DGVbeta]
DECIPHEREDNRA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEDNRA 
Mutations
ICGC Data PortalEDNRA 
TCGA Data PortalEDNRA 
Broad Tumor PortalEDNRA
OASIS PortalEDNRA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDNRA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEDNRA
Mutations and Diseases : HGMDEDNRA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EDNRA
DgiDB (Drug Gene Interaction Database)EDNRA
DoCM (Curated mutations)EDNRA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDNRA (select a term)
intoGenEDNRA
Cancer3DEDNRA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131243    157300    616367   
Orphanet23472   
DisGeNETEDNRA
MedgenEDNRA
Genetic Testing Registry EDNRA
NextProtP25101 [Medical]
TSGene1909
GENETestsEDNRA
Target ValidationEDNRA
Huge Navigator EDNRA [HugePedia]
snp3D : Map Gene to Disease1909
BioCentury BCIQEDNRA
ClinGenEDNRA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1909
Chemical/Pharm GKB GenePA27617
Clinical trialEDNRA
Miscellaneous
canSAR (ICR)EDNRA (select the gene name)
DataMed IndexEDNRA
Probes
Litterature
PubMed206 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDNRA
EVEXEDNRA
GoPubMedEDNRA
iHOPEDNRA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:41:28 CET 2019
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