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

POLG2 Gene

protein-coding   GIFtS: 55
GCID: GC17M062473

Polymerase (DNA Directed), Gamma 2, Accessory Subunit

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
Polymerase (DNA Directed), Gamma 2, Accessory Subunit1 2     POLB2
Mitochondrial DNA Polymerase Accessory Subunit2 3     POLG-BETA2
MTPOLB2 3     DNA Polymerase Subunit Gamma-2, Mitochondrial2
DNA Polymerase Gamma Accessory 55 KDa Subunit2 3     Mitochondrial DNA Polymerase Subunit Gamma-22
p552 3     Mitochondrial DNA Polymerase, Accessory Subunit2
PEOA42 5     EC 2.7.7.73
POLGB2 5     MtPolB3
HP552     PolG-beta3

External Ids:    HGNC: 91801   Entrez Gene: 112322   Ensembl: ENSG000002565257   OMIM: 6049835   UniProtKB: Q9UHN13   

Export aliases for POLG2 gene to outside databases

Previous GC identifers: GC17M065809 GC17P068985 GC17M062891 GC17M063024 GC17M059904 GC17M057923


(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 POLG2 Gene:
This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a
heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding
and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external
ophthalmoplegia with mitochondrial DNA deletions.(provided by RefSeq, Sep 2009)

GeneCards Summary for POLG2 Gene: 
POLG2 (polymerase (DNA directed), gamma 2, accessory subunit) is a protein-coding gene. Diseases associated with POLG2 include endocrine diseases, and alpers syndrome, and among its related super-pathways are Metabolism. GO annotations related to this gene include DNA-directed DNA polymerase activity and identical protein binding.

UniProtKB/Swiss-Prot: DPOG2_HUMAN, Q9UHN1
Function: Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and
increases the processivity of the enzyme. Binds to ss-DNA

Gene Wiki entry for POLG2 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_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLG2 gene promoter:
         ER-alpha   E2F-3a   E2F-4   E2F-5   E2F-2   E47   Evi-1   C/EBPalpha   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLG2 promoter sequence
   Search SABiosciences Chromatin IP Primers for POLG2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POLG2


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

Entrez Gene cytogenetic band: 17q   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23.3

POLG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLG2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M062473:  view genomic region     (about GC identifiers)

Start:
62,473,902 bp from pter      End:
62,493,184 bp from pter
Size:
19,283 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003315947 281,632-300,913     

(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: DPOG2_HUMAN, Q9UHN1 (See protein sequence)
Recommended Name: DNA polymerase subunit gamma-2, mitochondrial precursor  
Size: 485 amino acids; 54911 Da
Subunit: Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits
Subcellular location: Mitochondrion
3 PDB 3D structures from and Proteopedia for POLG2:
2G4C (3D)        3IKL (3D)        3IKM (3D)    
Secondary accessions: O00419 Q0IJ81 Q96GW2 Q9UK35 Q9UK94

Explore the universe of human proteins at neXtProt for POLG2: NX_Q9UHN1

Explore proteomics data for POLG2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHN1

  • POLG2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POLG2 Protein Expression
    REFSEQ proteins: NP_009146.2  
    ENSEMBL proteins: 
     ENSP00000442563   ENSP00000462071   ENSP00000464389  

    Human Recombinant Protein Products for POLG2: 
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    OriGene Protein Over-expression Lysate for POLG2
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for POLG2
    GenScript Custom Purified and Recombinant Proteins Services for POLG2
    Novus Biologicals POLG2 Protein
    Novus Biologicals POLG2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000262mitochondrial chromosome TAS9153213
    GO:0005739mitochondrion NAS--
    GO:0042645mitochondrial nucleoid IDA18063578

    POLG2 for ontologies           About GeneDecksing



    POLG2 Antibody Products: 
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    Abcam antibodies for POLG2
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    LSBio Antibodies in human, mouse, rat for POLG2 

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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    3 InterPro protein domains:
     IPR004154 Anticodon-bd
     IPR027030 POLG2
     IPR027031 Gly-tRNA_synthase/POLG2

    Graphical View of Domain Structure for InterPro Entry Q9UHN1

    ProtoNet protein and cluster: Q9UHN1


    POLG2 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: DPOG2_HUMAN, Q9UHN1
    Function: Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and
    increases the processivity of the enzyme. Binds to ss-DNA
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Genatlas biochemistry entry for POLG2:
    polymerase (DNA directed) gamma 2,mitochondrial,accessory subunit

         Enzyme Number (IUBMB): EC 2.7.7.71

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003697single-stranded DNA binding NAS--
    GO:0003887DNA-directed DNA polymerase activity NAS--
    GO:0005515protein binding IPI16263719
    GO:0042802identical protein binding IEA--
         
    POLG2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Polg2):
     cellular  embryogenesis  mortality/aging  nervous system  normal 
     vision/eye 

    POLG2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Polg2tm1.1Wcc for POLG2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for POLG2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POLG2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLG2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLG2 

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    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of POLG2

    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLG2


    (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 POLG2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for POLG2):
        Metabolic pathways


    POLG2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POLG2

    2 Interacting proteins for POLG2 (Q9UHN11, 2, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLGP540981, 2, 3EBI-852642,EBI-852624 MINT-6167836 I2D: score=4 
    FYCO1Q9BQS83I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication NAS10608893
    GO:0006261DNA-dependent DNA replication TAS9153213
    GO:0006281DNA repair NAS10608893

    POLG2 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

    POLG2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for POLG2 (DPOG2)

    9 Novoseek inferred chemical compound relationships for POLG2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carbovir 81.8 1 14674745 (1)
    nucleoside 71.8 7 14674745 (4), 17984232 (1), 17650502 (1), 11328813 (1)
    diethyl dithiocarbamate 56.2 5 14674745 (1), 8022405 (1), 17984232 (1)
    abacavir 45 1 14674745 (1)
    zidovudine 43.7 1 1892364 (1)
    lamivudine 42 1 14674745 (1)
    cytosine 32 1 11594679 (1)
    atp 7.9 1 14663628 (1)
    hydrogen 0 5 17650502 (2), 17650503 (2)

    Search CenterWatch for drugs/clinical trials and news about POLG2 / DPOG2

    (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 POLG2 gene: 
    NM_007215.3  

    Unigene Cluster for POLG2:

    Polymerase (DNA directed), gamma 2, accessory subunit
    Hs.437009  [show with all ESTs]
    Unigene Representative Sequence: NM_007215
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539111(uc021ubq.1 uc002jei.3) ENST00000581355 ENST00000582501
    ENST00000577506 ENST00000580490 ENST00000585104 ENST00000585141(uc010deg.2)
    ENST00000578687 ENST00000580893 ENST00000578997
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate POLG2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for POLG2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLG2
    Clone
    Products:
         
    OriGene clones in human, mouse for POLG2 (see all 7)
    OriGene ORF clones in mouse, rat for POLG2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POLG2 (NM_007215)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLG2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLG2
    Sirion Biotech Customized lentivirus for stable overexpression of POLG2 
                         Customized lentivirus expression plasmids for stable overexpression of POLG2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for POLG2
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat POLG2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLG2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLG2

    Additional mRNA sequence: 

    AF142992.1 AF177201.1 AF184344.1 AK307801.1 BC000913.2 BC009194.2 U94703.1 

    13 DOTS entries:

    DT.408902  DT.100021055  DT.95181218  DT.100775092  DT.40111046  DT.86843121  DT.100692469  DT.100745502 
    DT.75102197  DT.95107509  DT.97794483  DT.100745500  DT.92346772 

    24/108 AceView cDNA sequences (see all 108):

    BM786926 BI771525 BX331650 AF177201 BQ436135 D31340 BC009194 BM127353 
    AI373882 AI460158 BQ068330 BF057334 AA737049 AI859938 AW167705 BQ686756 
    BM927182 BC000913 BE301518 CD516901 BX483418 CK906252 CR617858 CD109423 

    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

    POLG2 expression in normal human tissues (normalized intensities)      POLG2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCCTACC
    POLG2 Expression
    About this image


    POLG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Endothelium (Cardiovascular System)
             cd31+ cells   
     
     Blood (Cardiovascular System)
             cd31+ cells   
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer

    See POLG2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POLG2

    SOURCE GeneReport for Unigene cluster: Hs.437009
        SABiosciences Custom PCR Arrays for POLG2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLG2

    (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 POLG2 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polg21 , 5 polymerase (DNA directed), gamma 2, accessory subunit1, 5 82.43(n)1
    77.12(a)1
      11 (70.01 cM)5
    507761  NM_015810.21  NP_056625.21 
     1067682535 
    chicken
    (Gallus gallus)
    Aves POLG21 polymerase (DNA directed), gamma 2, accessory subunit 66.9(n)
    64.39(a)
      417418  XM_415670.3  XP_415670.2 
    lizard
    (Anolis carolinensis)
    Reptilia POLG26
    polymerase (DNA directed), gamma 2, accessory subu...
    58(a)
    1 ↔ 1
    GL343250.1(1345008-1355050)
    African clawed frog
    (Xenopus laevis)
    Amphibia MtPolB2 mitochondrial DNA polymerase accessory subunit precursor 70.83(n)    AF124606.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-157f15.31 si:ch211-157f15.3 56.2(n)
    50(a)
      100150674  XM_001922324.3  XP_001922359.2 


    ENSEMBL Gene Tree for POLG2 (if available)
    TreeFam Gene Tree for POLG2 (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

    10/473 SNPs in POLG2 are shown (see all 473)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0293644
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4)4--see VAR_0293642 G E mis40--------
    rs1048946321,2
    Cpathogenic163527968(-) GAATGA/GATTAA 2 E G mis10--------
    rs72174771,2
    C,F,A,H--62487750(+) GGAGCG/ATTTCA 2 -- int120Minor allele frequency- A:0.05NS EA NA CSA WA 1844
    rs1848110741,2
    --63527375(+) TCTCCC/TGACTG 1 -- ds50010--------
    rs1473831621,2
    --63527376(+) CTCCCA/GACTGG 1 -- ds50010--------
    rs1395980161,2
    --63527394(+) GGAAAA/CGTTTT 1 -- ds50010--------
    rs1871528871,2
    --63527419(+) AAAAGA/GGAAGA 1 -- ds50010--------
    rs2001632881,2
    C--63527422(+) AGGGA-/AGAGTGT 1 -- ds50010--------
    rs1920627331,2
    --63527489(+) CTGGAA/TATACA 1 -- ds50010--------
    rs1845055321,2
    --63527618(+) CTACCC/TGCTAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for POLG2 (62473902 - 62493184 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for POLG2: --

    Human Gene Mutation Database (HGMD): POLG2
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing POLG2
    DNA2.0 Custom Variant and Variant Library Synthesis for POLG2

    (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: 604983   
    OMIM disorders: 610131  
    UniProtKB/Swiss-Prot: DPOG2_HUMAN, Q9UHN1
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4)
    [MIM:610131]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper
    eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or
    proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and
    atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other
    symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include
    cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/23 diseases for POLG2 (see all 23):    About MalaCards
    endocrine diseases    alpers syndrome    autosomal dominant progressive external ophthalmoplegia    ophthalmoplegia
    chronic progressive external ophthalmoplegia    axonal neuropathy    lipodystrophy    lactic acidosis
    mitochondrial disorders    tremor    encephalomyopathy    hypogonadism
    male infertility    infertility    bipolar disorder    myopathy
    neuropathy    cataract    hepatitis c    ataxia

    1 disease from the University of Copenhagen DISEASES database for POLG2:
    Chronic progressive external ophthalmoplegia

    POLG2 for disorders           About GeneDecksing


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

    9 Novoseek inferred disease relationships for POLG2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpers syndrome 90.9 4 19478085 (1), 19924234 (1), 18502641 (1)
    progressive external ophthalmoplegia 82.1 8 15258572 (2), 19924234 (1), 12210792 (1), 16940310 (1) (see all 7)
    mitochondrial diseases 72.6 1 15258572 (1)
    lipodystrophy 32 1 17040633 (1)
    aids 10.3 2 14674745 (2)
    virus infection 10.1 3 14674745 (1), 17984232 (1), 9558343 (1)
    epilepsy 9.92 1 18502641 (1)
    immunodeficiency 7.54 2 17984232 (1), 15047533 (1)
    hiv infections 0 1 17040633 (1)

    Genetic Association Database (GAD): POLG2
    Human Genome Epidemiology (HuGE) Navigator: POLG2 (7 documents)

    Export disorders for POLG2 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 POLG2 gene, integrated from 9 sources (see all 100):
    (articles sorted by number of sources associating them with POLG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Accessory subunit of mitochondrial DNA polymerase from Drosophila embryos. Cloning, molecular analysis, and association in the native enzyme. (PubMed id 9153213)1, 2, 3, 9 Wang Y.... Kaguni L.S. (1997)
    2. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. (PubMed id 16685652)1, 2, 9 Longley M.J....Chinnery P.F. (2006)
    3. Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase. (PubMed id 10666468)1, 2, 9 Carrodeguas J.A. and Bogenhagen D.F. (2000)
    4. Human mitochondrial DNA polymerase holoenzyme: reconstitution and characterization. (PubMed id 10677218)1, 2, 9 Johnson A.A.... Johnson K.A. (2000)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. 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)
    7. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. (PubMed id 18575922)1, 4 Virgilio R....Comi G.P. (2008)
    8. Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers. (PubMed id 17494052)1, 4 Michiels S....Benhamou S. (2007)
    9. Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. (PubMed id 16697732)1, 4 Huang H....Wright T.L. (2006)
    10. The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance. (PubMed id 10608893)1, 2 Lim S.E.... Copeland W.C. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11232 HGNC: 9180 AceView: POLG2 Ensembl:ENSG00000256525 euGenes: HUgn11232
    ECgene: POLG2 Kegg: 11232 H-InvDB: POLG2

    (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 POLG2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POLG2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for POLG2 gene:
    Search GeneIP for patents involving POLG2

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



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