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EPOR (erythropoietin receptor)

Identity

HGNC (Hugo) EPOR
LocusID (NCBI) 2057
Atlas_Id 40475
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 11487881 and ends at 11495018 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EPOR (19p13.2) / RDH11 (14q24.1)EPOR (19p13.2) / SFTPB (2p11.2)IGH (14q32.33) / EPOR (19p13.2)
RFX2 (19p13.3) / EPOR (19p13.2)RFX2 19p13.3 / EPOR 19p13.2

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)EPOR   3416
Cards
Entrez_Gene (NCBI)EPOR  2057  erythropoietin receptor
AliasesEPO-R
GeneCards (Weizmann)EPOR
Ensembl hg19 (Hinxton)ENSG00000187266 [Gene_View]  chr19:11487881-11495018 [Contig_View]  EPOR [Vega]
Ensembl hg38 (Hinxton)ENSG00000187266 [Gene_View]  chr19:11487881-11495018 [Contig_View]  EPOR [Vega]
ICGC DataPortalENSG00000187266
TCGA cBioPortalEPOR
AceView (NCBI)EPOR
Genatlas (Paris)EPOR
WikiGenes2057
SOURCE (Princeton)EPOR
Genetics Home Reference (NIH)EPOR
Genomic and cartography
GoldenPath hg19 (UCSC)EPOR  -     chr19:11487881-11495018 -  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPOR  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblEPOR - 19p13.2 [CytoView hg19]  EPOR - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIEPOR [Mapview hg19]  EPOR [Mapview hg38]
OMIM133100   133171   
Gene and transcription
Genbank (Entrez)AK315097 BC019092 BC112153 BC143697 BC143698
RefSeq transcript (Entrez)NM_000121
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_021395 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)EPOR
Cluster EST : UnigeneHs.631624 [ NCBI ]
CGAP (NCI)Hs.631624
Alternative Splicing GalleryENSG00000187266
Gene ExpressionEPOR [ NCBI-GEO ]   EPOR [ EBI - ARRAY_EXPRESS ]   EPOR [ SEEK ]   EPOR [ MEM ]
Gene Expression Viewer (FireBrowse)EPOR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2057
GTEX Portal (Tissue expression)EPOR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19235   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19235  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19235
Splice isoforms : SwissVarP19235
PhosPhoSitePlusP19235
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_L_F1 (PS01352)   
Domains : Interpro (EBI)Erythropoietin_rcpt    FN3_dom    Growth/epo_recpt_lig-bind    Ig-like_fold    Long_hematopoietin_rcpt_CS   
Domain families : Pfam (Sanger)EpoR_lig-bind (PF09067)    fn3 (PF00041)   
Domain families : Pfam (NCBI)pfam09067    pfam00041   
Domain families : Smart (EMBL)FN3 (SM00060)  
Conserved Domain (NCBI)EPOR
DMDM Disease mutations2057
Blocks (Seattle)EPOR
PDB (SRS)1CN4    1EBA    1EBP    1EER    1ERN    2JIX    2MV6    4Y5V    4Y5X    4Y5Y   
PDB (PDBSum)1CN4    1EBA    1EBP    1EER    1ERN    2JIX    2MV6    4Y5V    4Y5X    4Y5Y   
PDB (IMB)1CN4    1EBA    1EBP    1EER    1ERN    2JIX    2MV6    4Y5V    4Y5X    4Y5Y   
PDB (RSDB)1CN4    1EBA    1EBP    1EER    1ERN    2JIX    2MV6    4Y5V    4Y5X    4Y5Y   
Structural Biology KnowledgeBase1CN4    1EBA    1EBP    1EER    1ERN    2JIX    2MV6    4Y5V    4Y5X    4Y5Y   
SCOP (Structural Classification of Proteins)1CN4    1EBA    1EBP    1EER    1ERN    2JIX    2MV6    4Y5V    4Y5X    4Y5Y   
CATH (Classification of proteins structures)1CN4    1EBA    1EBP    1EER    1ERN    2JIX    2MV6    4Y5V    4Y5X    4Y5Y   
SuperfamilyP19235
Human Protein AtlasENSG00000187266
Peptide AtlasP19235
HPRD00587
IPIIPI00017476   IPI00401740   IPI00401741   IPI00744260   
Protein Interaction databases
DIP (DOE-UCLA)P19235
IntAct (EBI)P19235
FunCoupENSG00000187266
BioGRIDEPOR
STRING (EMBL)EPOR
ZODIACEPOR
Ontologies - Pathways
QuickGOP19235
Ontology : AmiGOerythropoietin receptor activity  protein binding  extracellular region  cytosol  integral component of plasma membrane  signal transduction  positive regulation of cytosolic calcium ion concentration  brain development  heart development  positive regulation of cell proliferation  external side of plasma membrane  positive regulation of neuron projection development  erythropoietin-mediated signaling pathway  erythropoietin-mediated signaling pathway  erythropoietin-mediated signaling pathway  identical protein binding  negative regulation of neuron apoptotic process  decidualization  positive regulation of ERK1 and ERK2 cascade  negative regulation of hydrogen peroxide-induced cell death  
Ontology : EGO-EBIerythropoietin receptor activity  protein binding  extracellular region  cytosol  integral component of plasma membrane  signal transduction  positive regulation of cytosolic calcium ion concentration  brain development  heart development  positive regulation of cell proliferation  external side of plasma membrane  positive regulation of neuron projection development  erythropoietin-mediated signaling pathway  erythropoietin-mediated signaling pathway  erythropoietin-mediated signaling pathway  identical protein binding  negative regulation of neuron apoptotic process  decidualization  positive regulation of ERK1 and ERK2 cascade  negative regulation of hydrogen peroxide-induced cell death  
Pathways : BIOCARTAErythropoietin mediated neuroprotection through NF-kB [Genes]    EPO Signaling Pathway [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    PI3K-Akt signaling pathway    Jak-STAT signaling pathway    Hematopoietic cell lineage   
NDEx NetworkEPOR
Atlas of Cancer Signalling NetworkEPOR
Wikipedia pathwaysEPOR
Orthology - Evolution
OrthoDB2057
GeneTree (enSembl)ENSG00000187266
Phylogenetic Trees/Animal Genes : TreeFamEPOR
HOVERGENP19235
HOGENOMP19235
Homologs : HomoloGeneEPOR
Homology/Alignments : Family Browser (UCSC)EPOR
Gene fusions - Rearrangements
Fusion : MitelmanIGH/EPOR [14q32.33/19p13.2]  [t(14;19)(q32;p13)]  
Fusion : MitelmanRFX2/EPOR [19p13.3/19p13.2]  [t(19;19)(p13;p13)]  
Fusion: TCGARFX2 19p13.3 EPOR 19p13.2 LUAD
Fusion Cancer (Beijing)EPOR [19p13.2]  -  SFTPB [2p11.2]  [FUSC003071]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPOR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPOR
dbVarEPOR
ClinVarEPOR
1000_GenomesEPOR 
Exome Variant ServerEPOR
ExAC (Exome Aggregation Consortium)EPOR (select the gene name)
Genetic variants : HAPMAP2057
Genomic Variants (DGV)EPOR [DGVbeta]
DECIPHER (Syndromes)19:11487881-11495018  ENSG00000187266
CONAN: Copy Number AnalysisEPOR 
Mutations
ICGC Data PortalEPOR 
TCGA Data PortalEPOR 
Broad Tumor PortalEPOR
OASIS PortalEPOR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPOR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPOR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch EPOR
DgiDB (Drug Gene Interaction Database)EPOR
DoCM (Curated mutations)EPOR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPOR (select a term)
intoGenEPOR
Cancer3DEPOR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133100    133171   
Orphanet11938   
MedgenEPOR
Genetic Testing Registry EPOR
NextProtP19235 [Medical]
TSGene2057
GENETestsEPOR
Huge Navigator EPOR [HugePedia]
snp3D : Map Gene to Disease2057
BioCentury BCIQEPOR
ClinGenEPOR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2057
Chemical/Pharm GKB GenePA27834
Clinical trialEPOR
Miscellaneous
canSAR (ICR)EPOR (select the gene name)
Probes
Litterature
PubMed207 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPOR
EVEXEPOR
GoPubMedEPOR
iHOPEPOR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:36:45 CET 2016

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