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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EPOR Gene

protein-coding   GIFtS: 69
GCID: GC19M011489

Erythropoietin Receptor

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Erythropoietin Receptor1 2
EPO-R2 3

External Ids:    HGNC: 34161   Entrez Gene: 20572   Ensembl: ENSG000001872667   OMIM: 1331715   UniProtKB: P192353   
ORGUL members:         
NONCODE14:n409310      

Export aliases for EPOR gene to outside databases

Previous GC identifers: GC19M011619 GC19M011710 GC19M011333 GC19M011348 GC19M011350 GC19M011063


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EPOR Gene:
This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon
erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular
pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated
erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor
may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of
certain tumors. Alternate splicing results in multiple transcript variants.(provided by RefSeq, May 2010)

GeneCards Summary for EPOR Gene: 
EPOR (erythropoietin receptor) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with EPOR include primary polycythemia, and familial erythrocytosis, 1, and among its related super-pathways are Development EPO-induced Jak-STAT pathway and STAT3 Pathway. GO annotations related to this gene include erythropoietin receptor activity and identical protein binding.

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235
Function: Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and
differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell
types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase
Function: Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling

Gene Wiki entry for EPOR (Erythropoietin receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPOR gene promoter:
         Tal-1   p53   COUP   HNF-4alpha1   E47   GATA-1   AREB6   COUP-TF   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPOR promoter sequence
   Search SABiosciences Chromatin IP Primers for EPOR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPOR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3-p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3-p13.2

EPOR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPOR gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M011489:  view genomic region     (about GC identifiers)

Start:
11,487,881 bp from pter      End:
11,495,018 bp from pter
Size:
7,138 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235 (See protein sequence)
Recommended Name: Erythropoietin receptor precursor  
Size: 508 amino acids; 55065 Da
Subunit: Forms homodimers on EPO stimulation. The tyrosine-phosphorylated form interacts with several SH2
domain-containing proteins including LYN (By similarity), the adapter protein APS, PTPN6 (By similarity), PTPN11,
JAK2, PI3 kinases, STAT5A/B, SOCS3, CRKL (By similarity). Interacts with INPP5D/SHIP1 (By similarity). The
N-terminal SH2 domain of PTPN6 binds Tyr-454 and inhibits signaling through dephosphorylation of JAK2 (By
similarity). APS binding also inhibits the JAK-STAT signaling. Binding to PTPN11, preferentially through the
N-terminal SH2 domain, promotes mitogenesis and phosphorylation of PTPN11 (By similarity). Binding of JAK2
(through its N-terminal) promotes cell-surface expression (By similarity). Interaction with the ubiquitin ligase
NOSIP mediates EPO-induced cell proliferation. Interacts with ATXN2L
Subcellular location: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform EPOR-S: Secreted. Note=Secreted and located to the cell surface
6 PDB 3D structures from and Proteopedia for EPOR:
1CN4 (3D)        1EBA (3D)        1EBP (3D)        1EER (3D)        1ERN (3D)        2JIX (3D)    
Secondary accessions: B2RCG4 Q15443 Q2M205
Alternative splicing: 3 isoforms:  P19235-1   P19235-2   P19235-3   

Explore the universe of human proteins at neXtProt for EPOR: NX_P19235

Explore proteomics data for EPOR at MOPED 

Post-translational modifications:

  • UniProtKB: On EPO stimulation, phosphorylated on C-terminal tyrosine residues by JAK2. The phosphotyrosine motifs are also
    recruitment sites for several SH2-containing proteins and adapter proteins which mediate cell proliferation.
    Phosphorylation on Tyr-454 is required for PTPN6 interaction, Tyr-426 for PTPN11. Tyr-426 is also required for
    SOCS3 binding, but Tyr-454/Tyr-456 motif is the preferred binding site
  • UniProtKB: Ubiquitination at Lys-281 mediates receptor internalization, whereas ubiquitination at Lys-453 promotes
    trafficking of activated receptors to the lysosomes for degradation (By similarity). Ubiquitinated by NOSIP;
    appears to be either multi-monoubiquitinated or polyubiquitinated. Ubiquitination mediates proliferation and
    survival of EPO-dependent cells
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P19235

  • EPOR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPOR Protein Expression
    REFSEQ proteins: NP_000112.1  
    ENSEMBL proteins: 
     ENSP00000222139   ENSP00000467809   ENSP00000466784   ENSP00000468187   ENSP00000467230  

    Human Recombinant Protein Products for EPOR: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for EPOR (Erythropoietin R)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for EPOR
    GenScript Custom Purified and Recombinant Proteins Services for EPOR
    Novus Biologicals EPOR Proteins
    Novus Biologicals EPOR Lysate
    Sino Biological Recombinant Protein for EPOR
    Sino Biological Cell Lysate for EPOR 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EPOR 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005887integral to plasma membrane TAS1848667
    GO:0016021integral to membrane ----

    EPOR for ontologies           About GeneDecksing



    EPOR Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of EPOR
    R&D Systems Antibodies for EPOR (Erythropoietin R)
    OriGene Antibodies for EPOR
    OriGene Custom Antibody Services for EPOR
    GenScript Superior Antibodies for EPOR
    Novus Biologicals EPOR Antibodies
    Abcam antibodies for EPOR
    Cloud-Clone Corp. Antibodies for EPOR 
    ThermoFisher Antibodies for EPOR
    LSBio Antibodies in human, mouse, rat for EPOR 

    Assay Products for EPOR: 
    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for EPOR (Erythropoietin R)
    GenScript Custom Assay Services for EPOR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EPOR 
    Cloud-Clone Corp. CLIAs for EPOR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: Eythropoietin receptor 
    Prolactin receptor family

    5 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR009167 Erythropoietin_rcpt
     IPR015152 Growth/epo_recpt_lig-bind
     IPR003528 Long_hematopoietin_rcpt_CS

    Graphical View of Domain Structure for InterPro Entry P19235

    ProtoNet protein and cluster: P19235

    UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Domain: Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor
    motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind
    the SH2 domain of several SH2-containing phosphatases
    Similarity: Belongs to the type I cytokine receptor family. Type 1 subfamily
    Similarity: Contains 1 fibronectin type-III domain


    EPOR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EPOR_HUMAN, P19235
    Function: Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and
    differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell
    types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase
    Function: Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling

         Genatlas biochemistry entry for EPOR:
    erythropoietin receptor,unlikely involved in Diamond-Blackfan anemia,tightly linked to a full size LTR of human
    endogenous retroviruses HERV-K,interacting with JAK2 and STAT5,expressed in kidney cells

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004900erythropoietin receptor activity IDA2163696
    GO:0005515protein binding IPI11781573
    GO:0042802identical protein binding IPI--
         
    EPOR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EPOR:
     Increased cell death in breast 

         12 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Epor):
     cardiovascular system  cellular  embryogenesis  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system  no phenotypic analysis 
     normal  respiratory system 

    EPOR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EPOR: Eportm1Jtp Eportm1Liz Eportm1Cos Eportm1Jni Eportm1Jae

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPOR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPOR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPOR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPOR 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPOR
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate EPOR
    SwitchGear 3'UTR luciferase reporter plasmidEPOR 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EPOR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPOR

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of EPOR

    Clone
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    OriGene clones in human, mouse for EPOR (see all 5)
    OriGene ORF clones in mouse, rat for EPOR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPOR (NM_000121)
    Sino Biological Human cDNA Clone for EPOR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPOR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPOR
    Sirion Biotech Customized lentivirus for stable overexpression of EPOR 
                         Customized lentivirus expression plasmids for stable overexpression of EPOR 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPOR


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EPOR About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development EPO-induced Jak-STAT pathway
    Development EPO-induced Jak-STAT pathway0.42
    EPO signaling pathway0.34
    EPO Receptor Signaling0.42
    2PEDF Induced Signaling
    Endothelin-1 Signaling Pathway0.46
    Cytokine-cytokine receptor interaction0.43
    3Signaling events mediated by Stem cell factor receptor (c-Kit)
    Kit Receptor Signaling Pathway0.37
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    4GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    P2Y Receptor Signaling0.38
    5Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for EPOR
        G-protein signaling K-RAS regulation pathway
    Development EPO-induced Jak-STAT pathway
    Development EPO-induced MAPK pathway

    5/33 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EPOR (see all 33)
        Paxillin Interactions
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    JNK Pathway
    Tec Kinases Signaling

    3 GeneGo (Thomson Reuters) Pathways for EPOR
        Development EPO-induced MAPK pathway
    Development EPO-induced Jak-STAT pathway
    G-protein signaling K-RAS regulation pathway

    5 BioSystems Pathways for EPOR
        EPO Receptor Signaling
    Kit Receptor Signaling Pathway
    EPO signaling pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)
    Paxillin-independent events mediated by a4b1 and a4b7



    4         Kegg Pathways  (Kegg details for EPOR):
        Cytokine-cytokine receptor interaction
    PI3K-Akt signaling pathway
    Jak-STAT signaling pathway
    Hematopoietic cell lineage


    EPOR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPOR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/75 Interacting proteins for EPOR (P192351, 2, 3 ENSP000002221394) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN6P293502, 3, ENSP000003915924MINT-77967 MINT-74899 MINT-74949 MINT-77965 MINT-74951 MINT-73490 MINT-77964 MINT-77966 MINT-73504 MINT-73509 MINT-8037088 I2D: score=4 STRING: ENSP00000391592
    INPP5DQ928352, 3, ENSP000003525754MINT-8037133 I2D: score=5 STRING: ENSP00000352575
    PLCG2P168851, 3, ENSP000003523364EBI-617321,EBI-617403 I2D: score=5 STRING: ENSP00000352336
    ATXN2LQ8WWM71, 3EBI-617321,EBI-948363 I2D: score=3 
    PTPN1P180312, 3, ENSP000003606834MINT-6794734 MINT-6794720 MINT-6794748 I2D: score=2 STRING: ENSP00000360683
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS1668606
    GO:0007420brain development IEA--
    GO:0007507heart development IEA--
    GO:0009790embryo development IEA--
    GO:0038162erythropoietin-mediated signaling pathway TAS8506290

    EPOR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EPOR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EPOR

    4 DrugBank Compounds for EPOR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Darbepoetin alfaEpoetin (see all 2)11096-26-7targetagonist17575216 11752352 16505108
    Epoetin alfaEpoetin (see all 2)113427-24-0targetagonist17575216 11752352 16505108
    3,5 DIBROMOTYROSINE-- --target--10592235
    PeginesatideErythropoiesis-Stimulating Agent (ESA) (see all 2)913976-27-9targetstimulator23318685

    1 IUPHAR Ligand for EPOR (Eythropoietin receptor)    About this table 
    LigandTypeActionAffinityPubmed IDs
    erythropoietin
    AgonistAgonist--

    10/49 Novoseek inferred chemical compound relationships for EPOR gene (see all 49)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erex 79.2 4 8638628 (1), 7498361 (1), 1321832 (1)
    aclacinomycin 74 10 8639908 (2), 9389364 (2), 8853898 (1), 8602880 (1) (see all 5)
    tyrosine 67.3 279 8276859 (8), 7527668 (7), 7961995 (7), 8068943 (6) (see all 93)
    nesp 60.6 4 16286456 (3), 11727508 (1)
    pp 100 56.1 2 8034573 (1), 9162069 (1)
    gp 130 55.6 19 19002875 (2), 10858439 (1), 18500765 (1), 7869746 (1) (see all 11)
    n-acetylleucylleucylnorleucinal 51.8 7 8573070 (4), 10849444 (1)
    methylcellulose 49 1 12612986 (1)
    porphobilinogen 41.7 3 8639908 (1), 7858429 (1)
    lenalidomide 41.1 3 17255789 (1), 17076650 (1), 20359632 (1)

    Search CenterWatch for drugs/clinical trials and news about EPOR

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EPOR gene: 
    NM_000121.3  

    Unigene Cluster for EPOR:

    Erythropoietin receptor
    Hs.631624  [show with all ESTs]
    Unigene Representative Sequence: NR_033663
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222139(uc010xly.2 uc002mrk.2 uc002mrj.2 uc010xlx.2)
    ENST00000592375 ENST00000588681 ENST00000588859 ENST00000591958 ENST00000586890
    ENST00000590927 ENST00000589402
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPOR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPOR
    Sirion Biotech Customized lentivirus for stable overexpression of EPOR 
                         Customized lentivirus expression plasmids for stable overexpression of EPOR 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPOR
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPOR

    Additional mRNA sequence: 

    AK315097.1 BC019092.2 BC112153.1 BC143697.1 BC143698.1 BC143700.1 M34986.1 M60459.1 
    NR_033663.1 X57282.1 

    11 DOTS entries:

    DT.100784536  DT.114055  DT.100784537  DT.100771958  DT.95140901  DT.100709263  DT.121483760  DT.121483805 
    DT.91759826  DT.40124769  DT.91894612 

    24/181 AceView cDNA sequences (see all 181):

    BM996372 AA331289 BM967240 BQ773300 CR592865 M60459 BX340440 CR618473 
    AK074082 X57282 BC064475 NM_000121 BU683058 M34986 BX382170 CR610088 
    AA916937 AA700628 AA470719 AI457299 CR597800 AA470363 BM992649 CR620075 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for EPOR (see all 16)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:        -           -                 -                                   -                                               -                                 
    SP2:        -           -                 -                             -     -                                               -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d ^ 30 ^ 31 ^ 32a · 32b · 32c · 32d
    SP1:  -                 -                                                                                                               
    SP2:  -                                                                                                                                 
    SP3:                                            -                             -                                                         
    SP4:                                            -           -                 -                                                         
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for EPOR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EPOR expression in normal human tissues (normalized intensities)      EPOR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACACTGTGC
    EPOR Expression
    About this image


    EPOR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Proerythroblasts Hematopoietic Bone Marrow
             Bone Marrow CD105+ Cells   
             platelets   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Crescent Cells Cardiac Crescent
             Atrioventricular Node
     
     Liver (Hepatobiliary System)
             visceral organ   
     
     Bone (Muscoskeletal System)
             bone marrow   
     
     Chorion (Extraembryonic Tissues)
             Human Chorionic Mesenchymal Stromal Cells (HCMSC)   

    See EPOR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPOR

    SOURCE GeneReport for Unigene cluster: Hs.631624

    UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235
    Tissue specificity: Erythroid cells and erythroid progenitor cells. Isoform EPOR-F is the most abundant form in
    EPO-dependent erythroleukemia cells and in late-stage erythroid progenitors. Isoform EPOR-S and isoform EPOR-T
    are the predominant forms in bone marrow. Isoform EPOR-T is the most abundant from in early-stage erythroid
    progenitor cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including EPOR: 
              Interferons & Receptors in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for EPOR gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epor1 , 5 erythropoietin receptor1, 5 82.31(n)1
    81.85(a)1
      9 (7.93 cM)5
    138571  NM_010149.31  NP_034279.31 
     219588995 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    40(a)
    18(a)
    many → 1
    many → 1
    2(78996152-79009434)
    4(107230248-107252996)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005346671 erythropoietin receptor-like 47.85(n)
    37.33(a)
      100534667  XM_003198075.1  XP_003198123.1 


    ENSEMBL Gene Tree for EPOR (if available)
    TreeFam Gene Tree for EPOR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/253 SNPs in EPOR are shown (see all 253)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420947731,2,4
    C,FFamilial erythrocytosis 1 (ECYT1)4 --11425501(+) ATAAGG/AGTTGG 3 /P /S mis12Minor allele frequency- A:0.00NA EU 5663
    rs626387451,2,4
    C,FFamilial erythrocytosis 1 (ECYT1)4 pathogenic111425503(-) CTCCAA/GCCCTT 3 N S mis13Minor allele frequency- G:0.01NS NA EU 5729
    rs1219178311,2
    Cpathogenic111425685(-) GAGTAC/GACTAT 3 Y * stg10--------
    rs2818602981,2
    Cuntested111425728(-) GGCCTA/C/TGAAGC 3 * S stg10--------
    rs1865678271,2
    --11424362(+) CGAGCC/TACTGC 2 -- ds50010--------
    rs1910251471,2
    C--11424391(+) AAGACA/GAGACT 2 -- ds50010--------
    rs1809759261,2
    --11424516(+) TGCAGC/TGAACC 2 -- ds50010--------
    rs3179271,2
    C,F,H--11424562(+) tgagaC/Acctgt 2 -- ds50019Minor allele frequency- A:0.03NS NA WA 1172
    rs1434020711,2
    --11424699(+) GAGACC/TAGCTA 2 -- ut31 nc-transcript-variant0--------
    rs1483404661,2
    C--11424773(+) TGTGAC/GTGGGG 2 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for EPOR (11487881 - 11495018 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EPOR:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833752CNV Loss17160897
    nsv519802CNV Loss19592680
    nsv482213CNV Gain20164927


    Human Gene Mutation Database (HGMD): EPOR
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for EPOR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 133171   
    OMIM disorders: 133100  
    UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235
  • Familial erythrocytosis 1 (ECYT1) [MIM:133100]: An autosomal dominant disorder characterized by increased
    serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to
    erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively
    benign course and does not progress to leukemia. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/93 diseases for EPOR (see all 93):    About MalaCards
    primary polycythemia    familial erythrocytosis, 1    chromosome 5q deletion    doxorubicin induced cardiomyopathy
    endolymphatic sac tumor    polycythemia    olfactory neuroblastoma    polycythemia vera
    hemangioblastoma    thrombocytosis    tongue cancer    renal clear cell carcinoma
    myoma    hepatoblastoma    differentiating neuroblastoma    sickle cell disease
    von hippel-lindau disease    neuroma    essential thrombocythemia    merkel cell carcinoma

    4 diseases from the University of Copenhagen DISEASES database for EPOR:
    Polycythemia     Anemia     Cancer     Kidney disease

    EPOR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/74 Novoseek inferred disease relationships for EPOR gene (see all 74)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythrocytosis, familial 91.2 13 17327410 (2), 10498627 (2), 9121771 (1), 9664155 (1) (see all 8)
    erythrocytosis 80.4 22 15712191 (5), 11929803 (2), 8608241 (1), 9488636 (1) (see all 10)
    erythroleukemia 78 35 8142650 (4), 8608241 (3), 19581930 (2), 1314735 (2) (see all 22)
    polycythemia 76.4 26 8608241 (3), 8174675 (2), 9121771 (1), 9359528 (1) (see all 16)
    polycythemia vera 75.2 9 9649565 (1), 8174675 (1), 18059484 (1), 1453011 (1) (see all 8)
    anemia 71.6 37 19099624 (2), 19890127 (2), 2247677 (2), 8865271 (1) (see all 26)
    myeloproliferative disorders 67.2 1 8253831 (1)
    polycythemia secondary 63.4 1 17493421 (1)
    hemangioblastoma 42.3 4 16163267 (3), 16175858 (1)
    leukemia 33.4 22 19010836 (2), 10651724 (2), 9808054 (2), 11999556 (2) (see all 12)

    Genatlas disease: EPOR
    erythrocytosis,primary familial polycythemia

    Genetic Association Database (GAD): EPOR
    Human Genome Epidemiology (HuGE) Navigator: EPOR (4 documents)
    Tumor Gene Database (TGDB): EPOR

    Export disorders for EPOR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EPOR gene, integrated from 9 sources (see all 635):
    (articles sorted by number of sources associating them with EPOR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. (PubMed id 8608241)1, 2, 9 Le Couedic J.-P.... Vainchenker W. (1996)
    2. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. (PubMed id 8506290)1, 2, 9 de la Chapelle A.... Juvonen E. (1993)
    3. A new high affinity binding site for suppressor of cytokine signaling-3 on the erythropoietin receptor. (PubMed id 12027890)1, 2, 9 Hoertner M.... Haan S. (2002)
    4. Involvement of SH2-containing phosphotyrosine phosphatase Syp in erythropoietin receptor signal transduction pathways. (PubMed id 7534299)1, 2, 9 Tauchi T.... Broxmeyer H.E. (1995)
    5. Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. (PubMed id 18006699)1, 4, 9 Pardanani A....Tefferi A. (2008)
    6. Erythropoietin receptors associate with a ubiquitin ligase, p33RUL, and require its activity for erythropoietin-induced proliferation. (PubMed id 12746455)1, 2, 9 Friedman A.D.... Quelle F.W. (2003)
    7. Identification of the human erythropoietin receptor region required for Stat1 and Stat3 activation. (PubMed id 11756159)1, 2, 9 Kirito K....Komatsu N. (2002)
    8. An antagonist peptide-EPO receptor complex suggests that receptor dimerization is not sufficient for activation. (PubMed id 9808045)1, 2, 9 Livnah O.... Wilson I.A. (1998)
    9. Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. (PubMed id 8174675)1, 2, 9 Sokol L.... Prchal J.T. (1994)
    10. A high-throughput candidate gene mutation screen in l ymphoproliferative and myeloproliferative neoplasias. (PubMed id 19464057)1, 4 Kreil S....Chase A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2057 HGNC: 3416 AceView: EPORandRGL3 Ensembl:ENSG00000187266 euGenes: HUgn2057
    ECgene: EPOR Kegg: 2057 H-InvDB: EPOR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EPOR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EPOR Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EPOR gene:
    Search GeneIP for patents involving EPOR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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