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EPOR Gene

protein-coding   GIFtS: 69
GCID: GC19M011489

Erythropoietin Receptor

  See EPOR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Erythropoietin Receptor1 2
EPO-R2 3

External Ids:    HGNC: 34161   Entrez Gene: 20572   Ensembl: ENSG000001872667   OMIM: 1331715   UniProtKB: P192353   

Export aliases for EPOR gene to outside databases

Previous GC identifers: GC19M011619 GC19M011710 GC19M011333 GC19M011348 GC19M011350 GC19M011063


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with EPOR include primary polycythemia, and olfactory neuroblastoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   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 Chromatin IP Primers for EPOR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • 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 site1
  • 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 cells1
  • Ubiquitination2 at Lys281, Lys453
  • Glycosylation2 at Asn76
  • Modification sites at PhosphoSitePlus

  • See EPOR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    EPOR Human Recombinant Protein Products:

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    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

     
    Search eBioscience for Proteins for EPOR 

    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
    Novus Biologicals EPOR Antibodies
    Abcam antibodies for EPOR
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    LSBio Antibodies in human, mouse, rat for EPOR

    EPOR Assay Products:

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    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
    Search eBioscience for ELISAs for EPOR 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with EPOR           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with EPOR           About GenesLikeMe


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

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

    Find genes that share phenotypes with EPOR           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EPOR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target EPOR:
    hsa-mir-335-5p (MIRT018029)

    Block miRNA regulation of human, mouse, rat EPOR using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate EPOR
    SwitchGear 3'UTR luciferase reporter plasmidEPOR 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat EPOR

    Gene Editing
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    Clone
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    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

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPOR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EPOR_HUMAN, P19235: Cell membrane; Single-pass type I membrane protein
    EPOR_HUMAN, P19235: Isoform EPOR-S: Secreted. Note=Secreted and located to the cell surface
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    endoplasmic reticulum2
    nucleus2
    golgi apparatus1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with EPOR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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
    3Kit Receptor Signaling Pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    Kit Receptor Signaling Pathway0.37
    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
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58


    Find genes that share SuperPaths with EPOR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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
    Paxillin-independent events mediated by a4b1 and a4b7
    EPO signaling pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)



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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for EPOR

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

    Selected Interacting proteins for EPOR (P192351, 2, 3 ENSP000002221394) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN6P293501, 2, 3, ENSP000003915924EBI-617321,EBI-78260 MINT-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 
    PTPN1P180311, 2, 3, ENSP000003606834EBI-617321,EBI-968788 MINT-6794734 MINT-6794720 MINT-6794748 I2D: score=2 STRING: ENSP00000360683
    About this table

    Gene Ontology (GO): Selected biological process terms (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

    Find genes that share ontologies with EPOR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with EPOR           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    GenScript: all cDNA clones in your preferred vector: EPOR (NM_000121)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPOR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPOR
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for EPOR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPOR
      QuantiTect SYBR Green Assays in human, mouse, rat EPOR
      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 

    Selected AceView cDNA sequences (see all 181):

    BX382171 AA700628 AK074082 BU683058 AA470719 CR592320 AI457299 X57282 
    CR613702 BX099767 BX118527 AA916937 CR618473 BC064475 CR592865 BM996372 
    BQ773300 BM978271 BQ897911 BQ776641 AA331289 BC019092 BM992649 BM688813 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    EPOR expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Crescent Cells Cardiac Crescent
             Atrioventricular Node
     
     NULL (Uncategorized)
             Blast colony cells
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    EPOR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPOR Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EPOR gene from Selected 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 EPOR6
    erythropoietin receptor
    41(a)
    1 ↔ 1
    2(78996152-79009434)
    zebrafish
    (Danio rerio)
    Actinopterygii epor1 erythropoietin receptor 45.82(n)
    34.09(a)
      751109  NM_001043334.1  NP_001036799.1 


    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)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EPOR (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,FErythrocytosis, familial, 1 (ECYT1)4 --11425501(+) ATAAGG/AGTTGG 3 /P /S mis12Minor allele frequency- A:0.00NA EU 5663
    rs626387451,2,,4
    C,FErythrocytosis, familial, 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EPOR
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 133171   
    OMIM disorders: 133100  
    UniProtKB/Swiss-Prot: EPOR_HUMAN, P19235
  • Erythrocytosis, familial, 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

  • Selected diseases for EPOR (see all 21):    
    About MalaCards
    primary polycythemia    olfactory neuroblastoma    familial erythrocytosis, 1    chromosome 5q deletion
    erythrocytosis    pure red-cell aplasia    erythrocytosis, somatic    idiopathic neutropenia
    polycythemia    hemangioblastoma    endolymphatic sac tumor    thrombocytosis
    polycythemia vera    tongue cancer    hepatoblastoma    renal clear cell carcinoma
    paroxysmal nocturnal hemoglobinuria    myelodysplastic syndromes    sickle cell disease    non-small cell lung carcinoma

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

    Find genes that share disorders with EPOR           About GenesLikeMe

    Selected 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)
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    PubMed articles for EPOR gene, integrated from 10 sources (see all 638):
    (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. (Blood 1996)
    2. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. (PubMed id 8506290)1, 2, 9 de la Chapelle A.... Juvonen E. (Proc. Natl. Acad. Sci. U.S.A. 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. (Eur. J. Biochem. 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. (J. Biol. Chem. 1995)
    5. Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. (PubMed id 18006699)1, 4, 9 Pardanani A....Tefferi A. (Blood 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. (J. Biol. Chem. 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. (Blood 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. (Nat. Struct. Biol. 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. (Exp. Hematol. 1994)
    10. A high-throughput candidate gene mutation screen in lymphoproliferative and myeloproliferative neoplasias. (PubMed id 19464057)1, 4 Kreil S....Chase A. (Leuk. Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2057 HGNC: 3416 AceView: EPORandRGL3 Ensembl:ENSG00000187266 euGenes: HUgn2057
    ECgene: EPOR Kegg: 2057 H-InvDB: EPOR

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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