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POLE2 Gene

protein-coding   GIFtS: 68
GCID: GC14M050110

Polymerase (DNA Directed), Epsilon 2, Accessory Subunit

(Previous names: polymerase (DNA directed), epsilon 2 (p59 subunit))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polymerase (DNA Directed), Epsilon 2, Accessory Subunit1 2     DNA Polymerase II Subunit 22 3
DNA Polymerase Epsilon Subunit B1 2 3     EC 2.7.7.73 8
DPE22 3 5     DNA Polymerase Epsilon Subunit 22
Polymerase (DNA Directed), Epsilon 2 (P59 Subunit)1 2     

External Ids:    HGNC: 91781   Entrez Gene: 54272   Ensembl: ENSG000001004797   OMIM: 6026705   UniProtKB: P562823   

Export aliases for POLE2 gene to outside databases

Previous GC identifers: GC14M047432 GC14M043906 GC14M048100 GC14M049180 GC14M030227


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for POLE2 Gene:
POLE2 (polymerase (DNA directed), epsilon 2, accessory subunit) is a protein-coding gene. GO annotations related to this gene include DNA-directed DNA polymerase activity.

UniProtKB/Swiss-Prot: DPOE2_HUMAN, P56282
Function: Participates in DNA repair and in chromosomal DNA replication

Gene Wiki entry for POLE2 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_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLE2 gene promoter:
         Max1   TBP   CUTL1   CREB   deltaCREB   HFH-1   TFIID   ZID   Zic3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLE2 promoter sequence
   Search Chromatin IP Primers for POLE2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLE2


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

Entrez Gene cytogenetic band: 14q21-q22   Ensembl cytogenetic band:  14q21.3   HGNC cytogenetic band: 14q21-q22

POLE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLE2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M050110:  view genomic region     (about GC identifiers)

Start:
50,110,270 bp from pter      End:
50,155,140 bp from pter
Size:
44,871 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: DPOE2_HUMAN, P56282 (See protein sequence)
Recommended Name: DNA polymerase epsilon subunit 2  
Size: 527 amino acids; 59537 Da
Subunit: Component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4
Miscellaneous: In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are
responsible for different reactions of DNA synthesis
1 PDB 3D structure from and Proteopedia for POLE2:
2V6Z (3D)    
Secondary accessions: A0AV55 A4FU92 A4LBB7 A6NH58 B4DDE6 O43560
Alternative splicing: 3 isoforms:  P56282-1   P56282-2   P56282-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for POLE2: NX_P56282

Explore proteomics data for POLE2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys270, Lys523
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POLE2 (P56282) (see all 6)
     FVFVPGP  FKVFYPS  VEAAVQECSQ  QRTHRHELFTP 


    See POLE2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001184259.1  NP_001184260.1  NP_002683.2  

    ENSEMBL proteins: 
     ENSP00000216367   ENSP00000446313   ENSP00000451621   ENSP00000475468  
    Reactome Protein details: P56282

    POLE2 Human Recombinant Protein Products:

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    Novus Biologicals POLE2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for POLE2 

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for POLE2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POL: DNA polymerases

    3 InterPro protein domains:
     IPR016266 DNA_pol_e_bsu
     IPR007185 DNA_pol_alpha/epsilon_bsu
     IPR024639 DNA_pol_e_bsu_N

    Graphical View of Domain Structure for InterPro Entry P56282

    ProtoNet protein and cluster: P56282

    1 Blocks protein domain: IPB007185 DNA polymerase epsilon subunit B

    UniProtKB/Swiss-Prot: DPOE2_HUMAN, P56282
    Similarity: Belongs to the DNA polymerase epsilon subunit B family


    Find genes that share domains with POLE2           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: DPOE2_HUMAN, P56282
    Function: Participates in DNA repair and in chromosomal DNA replication
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Genatlas biochemistry entry for POLE2:
    polymerase (DNA directed) epsilon 2,59kDa,potential adaptor between the catalytic subunit and other accessory
    proteins

         Enzyme Number (IUBMB): EC 2.7.7.71 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003887DNA-directed DNA polymerase activity IEA--
         
    Find genes that share ontologies with POLE2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for POLE2:
     Increased S DNA content, incre  Increased cell number in S  S arrest 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLE2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLE2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLE2

    miRNA
    Products:
        
    miRTarBase miRNAs that target POLE2:
    hsa-mir-193b-3p (MIRT016554)

    Block miRNA regulation of human, mouse, rat POLE2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate POLE2:
    hsa-miR-3658 hsa-miR-590-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POLE2
    Predesigned siRNA for gene silencing in human, mouse, rat POLE2

    Gene Editing
    Products:
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    Clone
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    OriGene ORF clones in mouse, rat for POLE2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): POLE2 (NM_002692)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLE2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLE2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for POLE2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE2


    (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
    DPOE2_HUMAN, P56282: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion3
    peroxisome2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0008622epsilon DNA polymerase complex IDA10801849
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with POLE2           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 POLE2 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Telomere C-strand (Lagging Strand) Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Cell cycle Transition and termination of DNA replication0.43
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.94
    Repair synthesis for gap-filling by DNA polymerase in TC-NER0.00
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Gap-filling DNA repair synthesis and ligation in GG-NER0.00
    Extension of Telomeres0.79
    2E2F mediated regulation of DNA replication
    Mitotic G1-G1/S phases0.81
    G1 to S cell cycle control0.35
    G1/S Transition0.81
    3Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Nucleotide excision repair0.69
    4Activation of the pre-replicative complex
    Activation of the pre-replicative complex0.66
    DNA Replication0.66
    5CDK-mediated phosphorylation and removal of Cdc6
    Synthesis of DNA0.92
    DNA Replication Pre-Initiation0.81
    DNA Replication0.92
    S Phase0.78
    M/G1 Transition0.81


    Find genes that share SuperPaths with POLE2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLE2
        DNA Repair Mechanisms
    Cell Cycle Control of Chromosomal Replication

    1 GeneGo (Thomson Reuters) Pathway for POLE2
        Cell cycle Transition and termination of DNA replication

    3 BioSystems Pathways for POLE2
        G1 to S cell cycle control
    DNA Replication
    RB in Cancer

    5 Reactome Pathways for POLE2
        Telomere C-strand synthesis initiation
    Repair synthesis for gap-filling by DNA polymerase in TC-NER
    Activation of the pre-replicative complex
    Repair synthesis of patch ~27-30 bases long by DNA polymerase
    DNA replication initiation


    Selected Kegg Pathways  (Kegg details for POLE2) (see all 7):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    DNA replication
    Base excision repair

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLE2
    Interactions:

        GeneGlobe Interaction Network for POLE2

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

    Selected Interacting proteins for POLE2 (P562822, 3 ENSP000002163674) via UniProtKB, MINT, STRING, and/or I2D (see all 194)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT5Q929932, 3MINT-63905 I2D: score=6 
    C14orf1Q9UKR52, 3MINT-63906 I2D: score=5 
    TLE1Q047242, 3MINT-63903 I2D: score=4 
    HIST2H2BFQ5QNW63, ENSP000003581644I2D: score=4 STRING: ENSP00000358164
    DDX10Q132063, ENSP000003143484I2D: score=3 STRING: ENSP00000314348
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0006260DNA replication TAS9405441

    Find genes that share ontologies with POLE2           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 POLE2 (DPOE2)

    6 HMDB Compounds for POLE2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--
    dCTP2'-deoxycytidine-5'-triphosphate (see all 4)2056-98-6--
    dGTP2'-Deoxyguanosine 5'-triphosphate (see all 4)2564-35-4--

    1 DrugBank Compound for POLE2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cladribine2-CdA (see all 5)4291-63-8targetinhibitor19576186



    (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 POLE2 gene (3 alternative transcripts): 
    NM_001197330.1  NM_001197331.1  NM_002692.3  

    Unigene Cluster for POLE2:

    Polymerase (DNA directed), epsilon 2, accessory subunit
    Hs.162777  [show with all ESTs]
    Unigene Representative Sequence: NM_002692
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554851 ENST00000556937 ENST00000216367(uc010ann.3 uc001wwu.3 uc010ano.3)
    ENST00000554671 ENST00000555724 ENST00000539565(uc021rsr.1) ENST00000556584
    ENST00000554377 ENST00000554396 ENST00000553850 ENST00000553805
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat POLE2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate POLE2:
    hsa-miR-3658 hsa-miR-590-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): POLE2 (NM_002692)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat POLE2
      QuantiFast Probe-based Assays in human, mouse, rat POLE2

    Additional mRNA sequence: 

    AF036899.1 AK293163.1 AK314963.1 BC112962.1 BC126218.1 BC126220.1 BX248064.1 

    12 DOTS entries:

    DT.92442339  DT.410833  DT.97837727  DT.100713210  DT.100019114  DT.40131026  DT.120788556  DT.75192090 
    DT.99947279  DT.40255495  DT.95366011  DT.91689569 

    Selected AceView cDNA sequences (see all 127):

    BQ946037 AU124277 AA448664 CA489133 NM_002692 AF036899 BM784534 BX248064 
    CR624379 CK822538 CR615139 BI524150 BM193890 BF740256 AA709119 AW629043 
    AI341337 AW242762 AA812343 BX432893 AA282380 BM799918 BX452508 BX280062 

    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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    POLE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAATGCCTT
    POLE2 Expression
    About this image


    POLE2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Blood (Hematopoietic System)
             Megakaryocyte-Erythroid Precursor Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Diencephalic Roof Plate
     
     Cartilage (Muscoskeletal System)
             Interzone Cells Stylopod Synovial Joint
    POLE2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLE2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.162777
        Custom PCR Arrays for POLE2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for POLE2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POLE2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE2

    (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 eukaryotes.

    Orthologs for POLE2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pole21 , 5 polymerase (DNA directed), epsilon 2 (p59 subunit)1, 5 86.27(n)1
    90.13(a)1
      12 (28.73 cM)5
    189741  NM_011133.21  NP_035263.11 
     692017795 
    chicken
    (Gallus gallus)
    Aves POLE21 polymerase (DNA directed), epsilon 2, accessory subunit 78.05(n)
    82.16(a)
      423567  NM_001006493.1  NP_001006493.1 
    lizard
    (Anolis carolinensis)
    Reptilia POLE26
    polymerase (DNA directed), epsilon 2, accessory su...
    80(a)
    1 ↔ 1
    GL343560.1(54509-80726)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.10152 Xenopus laevis POLE2 mRNA for DNA polymerase epsilon more 77.61(n)    AB048257.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pole22 polymerase (DNA directed), epsilon 2 72.76(n)   192320  AF506228.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG104893
    Pole21
    epsilon DNA polymerase3
    Pole21
    44(a)3
    49.12(n)1
    42.86(a)1
      64F43
    386611  NM_139738.21  NP_647995.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F08B4.53
    pole-21
    pole-21 30(a)3
    47.19(n)1
    31.73(a)1
      IV(8682675-8686796)3
    1776731  NM_069088.41  NP_501489.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DPB2(YPR175W)4 Second largest subunit of DNA polymerase II (DNA polymerase more   --   16(888974-891043) 856305  NP_015501.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DPB21 DPB2 48.31(n)
    39.53(a)
      832272  NM_147892.3  NP_680197.2 
    rice
    (Oryza sativa)
    Liliopsida Os05g01608001 Os05g0160800 49.77(n)
    40.06(a)
      4337886  NM_001061258.1  NP_001054723.1 


    ENSEMBL Gene Tree for POLE2 (if available)
    TreeFam Gene Tree for POLE2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLE2 gene

    Find genes that share paralogs with POLE2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for POLE2
    PGOHUM00000249660


    (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 POLE2 (see all 995)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1480591391,2
    C--50109914(+) TTGGCC/TCACCG 2 -- ds50010--------
    rs1807029601,2
    --50109992(+) CGCCCA/GCCACC 2 -- ds50010--------
    rs1852777191,2
    C--50110111(+) CCCAAA/CGCACT 2 -- ds50010--------
    rs32188011,2
    C,F,H--50110319(-) ACTCTA/GTATCT 2 -- ut31 ese322Minor allele frequency- G:0.18NA NS EA CSA WA EU 3654
    rs1900414371,2
    C--50110354(+) TTCAGA/TTGATC 2 -- ut310--------
    rs32187991,2
    C,F,H--50110365(-) AGATTC/TTTAAA 2 -- ut31 ese316Minor allele frequency- T:0.02NA NS EU 3076
    rs1812092801,2
    C--50110389(+) GTTTGC/TTGAAA 2 -- spa10--------
    rs2011812771,2
    --50110436(+) GTATAC/TTTACT 2 -- int10--------
    rs32187961,2
    C,F,A,H--50110494(-) GACCTG/ATTTTT 2 -- int117Minor allele frequency- A:0.17NA NS EA WA 2506
    rs113615671,2
    C--50110594(+) TTTTT-/TTTTTT 2 -- int1 trp31Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for POLE2 (50110270 - 50155140 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for POLE2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3082CNV Deletion18987735
    esv2748707CNV Deletion23290073
    esv1091889CNV Deletion17803354
    esv2748709CNV Deletion23290073
    esv28926CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): POLE2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLE2
    DNA2.0 Custom Variant and Variant Library Synthesis for POLE2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602670    OMIM disorders: --


    Find genes that share disorders with POLE2           About GenesLikeMe

    Genetic Association Database (GAD): POLE2
    Human Genome Epidemiology (HuGE) Navigator: POLE2 (1 document)

    Export disorders for POLE2 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 POLE2 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with POLE2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The small subunits of human and mouse DNA polymerase epsilon are homologous to the second largest subunit of the yeast Saccharomyces cerevisiae DNA polymerase epsilon. (PubMed id 9443964)1, 2, 3 Jokela M....Syvaeoja J.E. (Nucleic Acids Res. 1998)
    2. Purification, cDNA cloning, and gene mapping of the small subunit of human DNA polymerase epsilon. (PubMed id 9405441)1, 2, 3 Li Y.... Linn S. (J. Biol. Chem. 1997)
    3. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. E2F mediates induction of the Sp1-controlled promoter of the human DNA polymerase varepsilon B-subunit gene POLE2. (PubMed id 11433027)1, 2 Huang D.... Syvaoja J.E. (Nucleic Acids Res. 2001)
    6. Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon. (PubMed id 10801849)1, 2 Li Y.... Linn S. (J. Biol. Chem. 2000)
    7. The solution structure of the amino-terminal domain of human DNA polymerase epsilon subunit B is homologous to C-domains of AAA+ proteins. (PubMed id 18676977)1, 9 Nuutinen T....Syvaoja J.E. (Nucleic Acids Res. 2008)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 5427 HGNC: 9178 AceView: POLE2 Ensembl:ENSG00000100479 euGenes: HUgn5427
    ECgene: POLE2 Kegg: 5427 H-InvDB: POLE2

    (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 POLE2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POLE2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pole2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POLE2 gene:
    Search GeneIP for patents involving POLE2

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



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