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

EPO Gene

protein-coding   GIFtS: 66
GCID: GC07P100318

Erythropoietin

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
erythropoietin1 2
MVCD22 5
EP2
epoetin2
Epoetin3

External Ids:    HGNC: 34151   Entrez Gene: 20562   Ensembl: ENSG000001304277   OMIM: 1331705   UniProtKB: P015883   

Export aliases for EPO gene to outside databases

Previous GC identifers: GC07P098853 GC07P099916 GC07P099929 GC07P099963 GC07P100156 GC07P094949


(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 EPO Gene:
This gene is a member of the EPO/TPO family and encodes a secreted, glycosylated cytokine composed of four alpha
helical bundles. The protein is found in the plasma and regulates red cell production by promoting erythroid
differentiation and initiating hemoglobin synthesis. This protein also has neuroprotective activity against a
variety of potential brain injuries and antiapoptotic functions in several tissue types. (provided by RefSeq, Jul
2008)

GeneCards Summary for EPO Gene: 
EPO (erythropoietin) is a protein-coding gene. Diseases associated with EPO include pure red-cell aplasia, and anemia of prematurity, and among its related super-pathways are Development EPO-induced Jak-STAT pathway and Cellular response to hypoxia. GO annotations related to this gene include protein kinase activator activity and hormone activity.

UniProtKB/Swiss-Prot: EPO_HUMAN, P01588
Function: Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and
the maintenance of a physiological level of circulating erythrocyte mass

Gene Wiki entry for EPO (Erythropoietin) 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_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPO gene promoter:
         CREB   AP-1   ATF-2   deltaCREB   p300   c-Jun   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPO promoter sequence
   Search SABiosciences Chromatin IP Primers for EPO

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


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

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q21

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P100318:  view genomic region     (about GC identifiers)

Start:
100,318,423 bp from pter      End:
100,321,323 bp from pter
Size:
2,901 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 99,678,028-99,680,928     

(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: EPO_HUMAN, P01588 (See protein sequence)
Recommended Name: Erythropoietin precursor  
Size: 193 amino acids; 21307 Da
Subcellular location: Secreted
3 PDB 3D structures from and Proteopedia for EPO:
1BUY (3D)        1CN4 (3D)        1EER (3D)    
Secondary accessions: Q2M2L6 Q549U2 Q9UDZ0 Q9UEZ5 Q9UHA0

Explore the universe of human proteins at neXtProt for EPO: NX_P01588

Explore proteomics data for EPO at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01588

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

    EPO Protein Expression
    REFSEQ proteins: NP_000790.2  
    ENSEMBL proteins: 
     ENSP00000252723  
    Reactome Protein details: P01588
    Human Recombinant Protein Products for EPO: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for EPO (Erythropoietin)
    Enzo Life Sciences proteins for EPO
    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 EPO
    GenScript Purified and Recombinant Proteins for EPO
    Novus Biologicals EPO Proteins
    Novus Biologicals EPO Lysate
    Sino Biological Recombinant Protein for EPO
    Sino Biological Cell Lysate for EPO 
    ProSpec Recombinant Protein for EPO
    Cloud-Clone Corp. Proteins for EPO 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA14569084
    GO:0009986cell surface IDA14569084

    EPO for ontologies           About GeneDecksing



    EPO Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of EPO
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    Abcam antibodies for EPO
    Cloud-Clone Corp. Antibodies for EPO 
    ThermoFisher Antibodies for EPO
    LSBio Antibodies in human, mouse, rat for EPO 

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR012351 4_helix_cytokine_core
     IPR019767 EPO/TPO_CS
     IPR001323 EPO_TPO
     IPR009079 4_helix_cytokine-like_core
     IPR003013 Erythroptn

    Graphical View of Domain Structure for InterPro Entry P01588

    ProtoNet protein and cluster: P01588

    1 Blocks protein domain: IPB003013 Erythropoietin signature

    UniProtKB/Swiss-Prot: EPO_HUMAN, P01588
    Similarity: Belongs to the EPO/TPO family


    EPO 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: EPO_HUMAN, P01588
    Function: Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and
    the maintenance of a physiological level of circulating erythrocyte mass

         Genatlas biochemistry entry for EPO:
    erythropoietin,46kDa,expressed in liver and kidney,stimulating cellular differentiation of bone marrow cells at an
    early stage,activating a voltage independent calcium channel dependent on tyrosine phosphorylation

         Summary:
    EPO as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Erythroid-like cells from Blood, Cardiomyocyte-like cells from Heart (see all).

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005128erythropoietin receptor binding IEA--
    GO:0005179hormone activity IEA--
    GO:0005515protein binding IPI9774108
    GO:0030295protein kinase activator activity IEA--
         
    EPO for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Epo):
     cardiovascular system  cellular  embryogenesis  hematopoietic system  homeostasis/metabolism 
     integument  liver/biliary system  mortality/aging  normal 

    EPO for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Epotm1Jae for EPO

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

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

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate EPO (see all 11):
    hsa-miR-320a hsa-miR-3194-5p hsa-miR-125a-5p hsa-miR-122 hsa-miR-320d hsa-miR-1291 hsa-miR-320b hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidEPO 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of EPO

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector: EPO (NM_000799)
    Sino Biological Human cDNA Clone for EPO
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPO
    Sirion Biotech Customized lentivirus for stable overexpression of EPO 
                         Customized lentivirus expression plasmids for stable overexpression of EPO 

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


    (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 EPO About   (see all 16)                                                                                              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
    2Cellular response to hypoxia
    Cellular response to hypoxia0.72
    Cellular responses to stress0.72
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    Regulation of Gene Expression by Hypoxia-inducible Factor0.36
    3G-protein signaling K-RAS regulation pathway
    G-protein signaling K-RAS regulation pathway0.96
    4Paxillin-independent events mediated by a4b1 and a4b7
    Paxillin-independent events mediated by a4b1 and a4b70.58
    5TGF-Beta Pathway
    JAK-STAT Pathway0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EPO
        Erythropoietin Pathway
    HIF1Alpha Pathway
    JAK-STAT Pathway

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

    5/6 BioSystems Pathways for EPO (see all 6)
        EPO Receptor Signaling
    EPO signaling pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)
    HIF-1-alpha transcription factor network
    HIF-2-alpha transcription factor network


    4        Reactome Pathways for EPO
        Cellular response to hypoxia
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Gene Expression by Hypoxia-inducible Factor
    Cellular responses to stress


    5         Kegg Pathways  (Kegg details for EPO):
        Cytokine-cytokine receptor interaction
    HIF-1 signaling pathway
    PI3K-Akt signaling pathway
    Jak-STAT signaling pathway
    Hematopoietic cell lineage


    EPO for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPO

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for EPO (P015881, 3 ENSP000002527234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPORP192351, 3, ENSP000002221394EBI-1027362,EBI-617321 I2D: score=5 STRING: ENSP00000222139
    DOK2O604963, ENSP000002764204I2D: score=1 STRING: ENSP00000276420
    EP300ENSP000002632534STRING: ENSP00000263253
    RECQL5ENSP000003176364STRING: ENSP00000317636
    About this table

    Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006915apoptotic process IEA--
    GO:0007165signal transduction NAS3838366
    GO:0007566embryo implantation IEA--

    EPO 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

    EPO for compounds           About GeneDecksing

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

    Browse Tocris compounds for EPO

    UniProtKB/Swiss-Prot: EPO_HUMAN, P01588
    Pharmaceutical: Used for the treatment of anemia. Available under the names Epogen (Amgen), Epogin (Chugai),
    Epomax (Elanex), Eprex (Janssen-Cilag), NeoRecormon or Recormon (Roche), Dynepo (Shire Pharmaceuticals) and
    Procrit (Ortho Biotech). Variations in the glycosylation pattern of EPO distinguishes these products. Epogen,
    Epogin, Eprex and Procrit are generically known as epoetin alfa, NeoRecormon and Recormon as epoetin beta, Dynepo
    as epoetin delta and Epomax as epoetin omega. Epoetin zeta is the name used for some 'biosimilars' forms of
    epoetin alfa and is available under the names Silapo (Stada) and Retacrit (Hospira). Darbepoetin alfa is a form
    created by 5 substitutions (Asn-57, Thr-59, Val-114, Asn-115 and Thr-117) that create 2 new N-glycosylation
    sites. It has a longer circulating half-life in vivo. It is available under the name Aranesp (Amgen). EPO is
    being much misused as a performance-enhancing drug in endurance athletes

    10/134 Novoseek inferred chemical compound relationships for EPO gene (see all 134)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron sucrose 89.9 132 19567093 (4), 11262469 (4), 18067104 (3), 16371604 (3) (see all 75)
    iron 89.6 2488 10850644 (10), 8671972 (9), 9590194 (7), 8350509 (7) (see all 99)
    eprex 88.5 49 16028020 (2), 15824129 (2), 15958820 (2), 14974359 (2) (see all 37)
    nesp 86.5 124 16286456 (7), 16598197 (6), 17534608 (6), 15728783 (5) (see all 49)
    epoetin beta 81.9 23 12910374 (3), 9209004 (2), 9743294 (1), 12886047 (1) (see all 19)
    epogen 80.3 20 11575840 (3), 8518098 (2), 10779035 (1), 2025050 (1) (see all 15)
    iron dextran 79.1 38 8716991 (4), 9415935 (3), 1361849 (2), 1751102 (1) (see all 25)
    recormon 79.1 19 18239805 (2), 7728837 (1), 1612854 (1), 11569479 (1) (see all 11)
    cilag 73.8 6 1415368 (1), 1361846 (1), 1948755 (1), 9156931 (1) (see all 6)
    ferric gluconate 73.2 18 18216316 (5), 19260610 (2), 12778887 (1), 18578008 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about EPO

    (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 EPO gene: 
    NM_000799.2  

    Unigene Cluster for EPO:

    Erythropoietin
    Hs.2303  [show with all ESTs]
    Unigene Representative Sequence: X02157
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000252723(uc011kkc.1 uc003uwi.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-320a hsa-miR-3194-5p hsa-miR-125a-5p hsa-miR-122 hsa-miR-320d hsa-miR-1291 hsa-miR-320b hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidEPO 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: EPO (NM_000799)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPO
    Sirion Biotech Customized lentivirus for stable overexpression of EPO 
                         Customized lentivirus expression plasmids for stable overexpression of EPO 
    Primer
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    OriGene qPCR primer pairs and template standards for EPO
    OriGene qSTAR qPCR primer pairs in human, mouse for EPO
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPO
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPO
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPO

    Additional mRNA sequence: 

    BC093628.1 BC111937.1 BC143225.1 JN849371.1 S65458.1 X02157.1 

    1 DOTS entry:

    DT.452249 

    12 AceView cDNA sequences:

    BM931641 T29272 BQ185758 AI620493 X02157 NM_000799 BX094354 BM931504 
    W93118 AI400428 AW951227 AA662379 

    GeneLoc Exon Structure


    (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

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


    EPO expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/0 selected tissues (see all 0) fully expand

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

    SOURCE GeneReport for Unigene cluster: Hs.2303

    UniProtKB/Swiss-Prot: EPO_HUMAN, P01588
    Tissue specificity: Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals

        SABiosciences Expression via Pathway-Focused PCR Arrays including EPO (see all 7): 
              Circadian Rhythms in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPO
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPO

    (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 EPO gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epo1 , 5 erythropoietin1, 5 80.03(n)1
    79.17(a)1
      5 (76.50 cM)5
    138561  NM_007942.21  NP_031968.11 
     1374822595 
    zebrafish
    (Danio rerio)
    Actinopterygii epo1 erythropoietin 49.02(n)
    38.82(a)
      100004455  NM_001115128.1  NP_001108600.1 


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

    10/140 SNPs in EPO are shown (see all 140)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0098714
    A hepatocellular carcinoma4--see VAR_0098712 P Q mis40--------
    rs676536291,2
    C--99676160(+) CCCCG-/TGACCA 1 -- us2k10--------
    rs2015351711,2
    C--99677400(+) TCCAG-/AAAAAA 1 -- us2k10--------
    rs585667021,2
    C--99679756(+) ACTCA-/CTCA  
            
    TTCAT
    1 -- int11Minor allele frequency- CTCA:0.00NA 2
    rs4841991,2
    C,F,H--100320151(-) AATGAG/ATGAGT 1 -- int13Minor allele frequency- A:0.50WA NA CSA 6
    rs1858348891,2
    --103622192(+) AAATGA/TCCCTA 1 -- us2k10--------
    rs1168845271,2
    F--103622272(+) TGACAC/ACACGG 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs2016588181,2
    --103622293(+) GGTGA-/CCCCCC 1 -- us2k10--------
    rs1894654201,2
    --103622386(+) GCATTG/TCGGGC 1 -- us2k10--------
    rs1818122531,2
    --103622387(+) CATTGC/TGGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for EPO (100318423 - 100321323 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for EPO:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    nsv888792CNV Loss21882294
    nsv470381CNV Loss18288195
    nsv888791CNV Loss21882294
    nsv831072CNV Loss17160897
    nsv888796CNV Loss21882294
    nsv8184CNV Loss18304495


    Human Gene Mutation Database (HGMD): EPO
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EPO
    DNA2.0 Custom Variant and Variant Library Synthesis for EPO

    (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: 133170   
    OMIM disorders: 612623  
    UniProtKB/Swiss-Prot: EPO_HUMAN, P01588
  • Microvascular complications of diabetes 2 (MVCD2) [MIM:612623]: Pathological conditions that develop in
    numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic
    nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major
    cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased
    tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • 20/291 diseases for EPO (see all 291):    About MalaCards
    pure red-cell aplasia    anemia of prematurity    uremia    neonatal anemia
    acquired pure red cell aplasia    vibrio vulnificus infection    hypertensive encephalopathy    congenital hypoplastic anemia
    neonatal hypoxic and ischemic brain injury    rh isoimmunization    microvascular complications of diabetes 2    polycythemia
    iron deficiency anemia    refractory anemia    end stage renal failure    acquired polycythemia
    transient erythroblastopenia of childhood    gastric antral vascular ectasia    brain injury    thalassemia minor

    4 diseases from the University of Copenhagen DISEASES database for EPO:
    Anemia     Kidney failure     Polycythemia     Myeloma

    EPO for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 Novoseek inferred disease relationships for EPO gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia 96.8 5977 7557862 (7), 10827238 (7), 12713065 (7), 1421381 (6) (see all 99)
    erythrocytosis 89.7 261 14564105 (7), 15712191 (5), 15477203 (4), 7567437 (4) (see all 99)
    iron deficiency 89.2 295 12647284 (4), 15784734 (4), 9352960 (3), 8524494 (3) (see all 99)
    renal failure chronic 89 1029 1339766 (4), 8552143 (4), 10850644 (3), 2220877 (3) (see all 99)
    polycythemia 85.6 205 16231451 (4), 12393546 (4), 15217714 (3), 16769575 (3) (see all 99)
    anemia severe 82.9 111 19923094 (4), 15792921 (2), 12234311 (2), 8938689 (2) (see all 84)
    red cell aplasia 82.4 112 15172775 (4), 16449549 (3), 8596164 (2), 8488547 (2) (see all 79)
    polycythemia vera 80.9 75 9475763 (4), 17980427 (2), 9731054 (2), 9292543 (2) (see all 52)
    myelodysplastic syndromes 79.9 283 1961041 (3), 7505147 (3), 8398823 (2), 8411647 (2) (see all 99)
    renal disease 79.7 497 16099877 (4), 15498082 (3), 16889570 (3), 17210593 (3) (see all 99)

    Genetic Association Database (GAD): EPO
    Human Genome Epidemiology (HuGE) Navigator: EPO (67 documents)

    Export disorders for EPO 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 EPO gene, integrated from 9 sources (see all 4500):
    (articles sorted by number of sources associating them with EPO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. (PubMed id 18458324)1, 2, 4 Tong Z.... Zhang K. (2008)
    2. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PubMed id 9799793)1, 2, 3 Gloeckner G.... Rosenthal A. (1998)
    3. Isolation and characterization of genomic and cDNA clones of human erythropoietin. (PubMed id 3838366)1, 2, 3 Jacobs K.... Miyake T. (1985)
    4. Gene expression of mutant erythropoietin in hepatocellular carcinoma. (PubMed id 8396923)1, 2, 9 Funakoshi A.... Shimizu S. (1993)
    5. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4, 9 Ganesh S.K....Lin J.P. (2009)
    6. Relation between renal dysfunction requiring renal re placement therapy and promoter polymorphism of the erythropoietin gene in cardi ac surgery. (PubMed id 21092038)1, 4 Popov A.F....Hinz J. (2010)
    7. Association analysis of nine candidate gene polymorph isms in Indian patients with type 2 diabetic retinopathy. (PubMed id 21067572)1, 4 Balasubbu S....Hejtmancik J.F. (2010)
    8. Significant association between polymorphism of the e rythropoietin gene promoter and myelodysplastic syndrome. (PubMed id 21078205)1, 4 Ma W....Albitar M. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Association between erythropoietin gene polymorphisms and diabetic retinopathy. (PubMed id 20065225)1, 4 Abhary S....Craig J.E. (2010)

    (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: 2056 HGNC: 3415 AceView: EPO Ensembl:ENSG00000130427 euGenes: HUgn2056
    ECgene: EPO Kegg: 2056 H-InvDB: EPO

    (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 EPO Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EPO Genetics and Cytogenetics in Oncology and Haematology
    R&D Systems' cytokine source book: Erythropoietinhttp://www.rndsystems.com/molecule_detail.aspx?m=1405
    Wikipedia http://en.wikipedia.org/wiki/Erythropoietin

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

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



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