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EPO Gene

protein-coding   GIFtS: 66
GCID: GC07P100318

Erythropoietin

  See EPO-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 uremia, and congenital hypoplastic anemia. GO annotations related to this gene include erythropoietin receptor binding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   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 Chromatin IP Primers for EPO

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: EPO_HUMAN, P01588 (See protein sequence)
Recommended Name: Erythropoietin precursor  
Size: 193 amino acids; 21307 Da
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

Post-translational modifications: 

  • Glycosylation2 at Asn51, Asn65, Asn110, Ser153
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_000790.2  
    ENSEMBL proteins: 
     ENSP00000252723  
    Reactome Protein details: P01588

    EPO Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    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

     
    eBioscience Proteins for EPO:  
                        Human Erythropoietin (EPO) Recombinant Protein 5 ug

    EPO Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EPO
    R&D Systems Antibodies for EPO (Erythropoietin)
    Browse OriGene Antibodies
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    Novus Biologicals EPO Antibodies
    Abcam antibodies for EPO
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    LSBio Antibodies in human, mouse, rat for EPO

    EPO Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EPO
    Cloud-Clone Corp. CLIAs for EPO
    eBioscience ELISAs for EPO: (see all 3
                        Human Erythropoietin (EPO) Platinum ELISA 96 tests


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    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


    Find genes that share domains with EPO           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: 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:
                
    Blood: Erythroid-like cells, Matured erythrocyte-like cells       to see all 2 cells
    Heart: Cardiomyocyte-like cells, Cardiomyocyte-like cells

         Gene Ontology (GO): 4 molecular function terms:    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--
         
    Find genes that share ontologies with EPO           About GenesLikeMe


    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 

    Find genes that share phenotypes with EPO           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Epotm1Jae for EPO

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EPO
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    Block miRNA regulation of human, mouse, rat EPO using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for EPO
    Predesigned siRNA for gene silencing in human, mouse, rat EPO

    Gene Editing
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    Clone
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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
    Addgene plasmids for EPO 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for EPO 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPO

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA4-13739) for EPO 


    (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
    EPO_HUMAN, P01588: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus2
    cytoskeleton1
    plasma membrane1
    vacuole1

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

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

    Find genes that share ontologies with EPO           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 EPO About   (see all 17)  
    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
    2Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Regulation of Gene Expression by Hypoxia-inducible Factor0.00
    Cellular response to hypoxia1.00
    3Cellular Senescence
    Cellular responses to stress0.81
    4Paxillin-dependent events mediated by a4b1
    Paxillin-independent events mediated by a4b1 and a4b70.58
    5TGF-Beta Pathway
    JAK-STAT Pathway0.57


    Find genes that share SuperPaths with EPO           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe 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

    Selected BioSystems Pathways for EPO (see all 6)
        EPO Receptor Signaling
    HIF-2-alpha transcription factor network
    Paxillin-independent events mediated by a4b1 and a4b7
    EPO signaling pathway
    HIF-1-alpha transcription factor network


    1 Reactome Pathway for EPO
        Regulation of gene expression by Hypoxia-inducible Factor


    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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction 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): Selected biological process terms (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--

    Find genes that share ontologies with EPO           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 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

    Selected 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)



    Find genes that share compounds with EPO           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 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)
    miRNA
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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
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EPO
    Clone
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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
    Addgene plasmids for EPO 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for EPO
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPO
      QuantiTect SYBR Green Assays in human, mouse, rat EPO
      QuantiFast Probe-based Assays in human, mouse, rat EPO
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA4-13739) for 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:

    BX094354 BQ185758 X02157 NM_000799 T29272 AI620493 BM931641 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™, 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)
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    EPO expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTCCAAGT
    EPO Expression
    About this image


    EPO Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    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

        Pathway & Disease-focused RT2 Profiler 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

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for EPO
    OriGene qSTAR qPCR primer pairs in human, mouse for EPO
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPO
    QuantiTect SYBR Green Assays in human, mouse, rat EPO
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EPO gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epo1 , 5 erythropoietin1, 5 80.52(n)1
    80.12(a)1
      5 (76.50 cM)5
    138561  NM_007942.21  NP_031968.11 
     1374830205 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia epo1 erythropoietin 49.56(n)
    39.47(a)
      100494034  NM_001246265.1  NP_001233194.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epo1 erythropoietin 48.83(n)
    38.85(a)
      100004455  NM_001038009.2  NP_001033098.1 


    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

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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 EPO (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for EPO (see all 59):    
    About MalaCards
    uremia    congenital hypoplastic anemia    rh isoimmunization    acquired polycythemia
    neonatal anemia    hypertensive encephalopathy    vibrio vulnificus infection    acquired pure red cell aplasia
    end stage renal failure    microvascular complications of diabetes 2    pure red-cell aplasia    anemia of prematurity
    polycythemia    deficiency anemia    iron deficiency anemia    refractory anemia
    dissecting aortic aneurysm    refractory anemia with excess blasts    autoimmune autonomic ganglionopathy    arteriovenous fistula

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

    Find genes that share disorders with EPO           About GenesLikeMe

    Selected 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)
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    PubMed articles for EPO gene, integrated from 10 sources (see all 4510):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Genome Res. 1998)
    3. Isolation and characterization of genomic and cDNA clones of human erythropoietin. (PubMed id 3838366)1, 2, 3 Jacobs K.... Miyake T. (Nature 1985)
    4. Gene expression of mutant erythropoietin in hepatocellular carcinoma. (PubMed id 8396923)1, 2, 9 Funakoshi A.... Shimizu S. (Biochem. Biophys. Res. Commun. 1993)
    5. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4, 9 Ganesh S.K....Lin J.P. (Nat. Genet. 2009)
    6. Relation between renal dysfunction requiring renal replacement therapy and promoter polymorphism of the erythropoietin gene in cardiac surgery. (PubMed id 21092038)1, 4 Popov A.F....Hinz J. (Artif Organs 2010)
    7. Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy. (PubMed id 21067572)1, 4 Balasubbu S....Hejtmancik J.F. (BMC Med. Genet. 2010)
    8. Significant association between polymorphism of the erythropoietin gene promoter and myelodysplastic syndrome. (PubMed id 21078205)1, 4 Ma W....Albitar M. (BMC Med. Genet. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Association between erythropoietin gene polymorphisms and diabetic retinopathy. (PubMed id 20065225)1, 4 Abhary S....Craig J.E. (Arch. Ophthalmol. 2010)

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

    (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 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
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/084/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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