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

POLG2 Gene

protein-coding   GIFtS: 54
GCID: GC17M062473

polymerase (DNA directed), gamma 2, accessory subunit
 Explore 26 diseases affiliated with
POLG2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for POLG2    

Aliases
for POLG2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Polymerase (DNA Directed), Gamma 2, Accessory Subunit1 2     POLB2
MTPOLB1 2 3     POLG-BETA2
HP551 2     DNA Polymerase Subunit Gamma-2, Mitochondrial2
Mitochondrial DNA Polymerase Accessory Subunit2 3     Mitochondrial DNA Polymerase Subunit Gamma-22
DNA Polymerase Gamma Accessory 55 KDa Subunit2 3     Mitochondrial DNA Polymerase, Accessory Subunit2
P551     EC 2.7.7.73
PEOA42 5     MtPolB3
POLGB2 5     PolG-Beta1

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


Summaries
for POLG2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
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 plasmid: POLG2 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-,PATCHES 62,514,524-62,533,805     

Proteins
for POLG2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UHN1

    • POLG2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_009146.2  
    ENSEMBL proteins: 
     ENSP00000442563   ENSP00000462071   ENSP00000464389  

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    OriGene Protein Over-expression Lysate: POLG2
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    Novus Biologicals POLG2 Protein
    Novus Biologicals POLG2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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



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    Protein Domains /
    Families
    for POLG2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    POLG2 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q9UHN1

    ProtoNet protein and cluster: Q9UHN1


    Function
    for POLG2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POLG2 (see all 7)
    OriGene shRNA RFP: POLG2
    OriGene siRNA: POLG2
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for POLG2

    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for POLG2

    In Situ Assay
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003697single-stranded DNA binding NAS--
    GO:0003887DNA-directed DNA polymerase activity NAS--
    GO:0004820glycine-tRNA ligase activity IEA--
    GO:0005515protein binding IPI19837034
    GO:0005524ATP binding IEA--


    POLG2 for ontologies           About GeneDecksing


    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Polg2):
     mortality/aging  nervous system  vision/eye 

    POLG2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for POLG2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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): 4 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
    GO:0006426glycyl-tRNA aminoacylation IEA--


    POLG2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for POLG2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    9 Novoseek 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 

    Transcripts
    for POLG2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POLG2 (see all 7)
    OriGene shRNA RFP: POLG2
    OriGene siRNA: POLG2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLG2
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLG2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLG2 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLG2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLG2

    Additional cDNA 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):

    CD516901 BE301518 BQ686756 CK906252 CR617858 BX483418 AI859938 AI373882 
    BM927182 BC009194 BX331650 BC000913 AF177201 AA737049 BQ436135 AW167705 
    BM127353 BI771525 BM786926 AI460158 BF057334 BQ068330 D31340 AI023804 

    GeneLoc Exon Structure


    Expression
    for POLG2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGCCTACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    POLG2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.437009
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    In Situ
    Assay Products:     
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    Orthologs
    for POLG2 gene

    (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 5/15 species (see all 15)    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
    		 --
    		 62(a)
    		 1 ↔ 1
    		 GL343250.1(1345134-1355050)
    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
    for POLG2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for POLG2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/335 NCBI SNPs in POLG2 are shown (see all 335)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048946321,2
    		Cpathogenic62474046(-) GAATGA/GATTAA 4 E G mis10--------
    rs1848110741,2
    		--62473453(+) TCTCCC/TGACTG 1 -- ds50010--------
    rs1473831621,2
    		--62473454(+) CTCCCA/GACTGG 1 -- ds50010--------
    rs1395980161,2
    		--62473472(+) GGAAAA/CGTTTT 1 -- ds50010--------
    rs1871528871,2
    		--62473497(+) AAAAGA/GGAAGA 1 -- ds50010--------
    rs2001632881,2
    		--62473500(+) AGGGA-/AGAGTGT 2 -- ds50010--------
    rs1920627331,2
    		--62473567(+) CTGGAA/TATACA 1 -- ds50010--------
    rs1845055321,2
    		--62473696(+) CTACCC/TGCTAG 1 -- ds50010--------
    rs1498998111,2
    		--62473711(+) CTTGTA/GTGTAA 1 -- ds50010--------
    rs1156013181,2
    		--62473851(+) ACTTTA/GTAAGT 1 -- ds50011Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for POLG2 (62473902 - 62493184 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          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 in human, mouse, rat for resequencing POLG2
    DNA2.0 Custom Variant and Variant Library Synthesis for POLG2

    Disorders / Diseases
    for POLG2 gene

    (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.)
    About This Section
    POLG2 for disorders           About GeneDecksing

    OMIM gene information: 604983   
    OMIM disorders: 610131  
    UniProtKB/Swiss-Prot: DPOG2_HUMAN, Q9UHN1
  • Defects in POLG2 are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions
    • autosomal dominant type 4 (PEOA4) [MIM:610131]. Progressive external ophthalmoplegia is 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

    20/26 diseases for POLG2 (see all 26):    About MalaCards
    progressive external ophthalmoplegia with mitochondrial dna deletions    autosomal dominant progressive external ophthalmoplegia    ophthalmoplegia    chronic progressive external ophthalmoplegia
    alpers syndrome    lactic acidosis    axonal neuropathy    urinary bladder cancer
    male infertility    hearing loss    lipodystrophy    encephalomyopathy
    endocrine diseases    bipolar disorder    tremor    hepatitis c
    hypogonadism    infertility    neuropathy    myopathy

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

    9 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: POLG2 (7 documents)

    Export disorders for POLG2 gene to outside databases

    Publications
    for POLG2 gene

    (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. 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)
    6. Each monomer of the dimeric accessory protein for hum an mitochondrial DNA polymerase has a distinct role in conferring processivity. (PubMed id 19858216)1, 9 Lee Y.S....Yin Y.W. (2010)
    7. Disease mutations in the human mitochondrial DNA poly merase thumb subdomain impart severe defects in mitochondrial DNA replication. (PubMed id 19478085)1, 9 Kasiviswanathan R....Copeland W.C. (2009)
    8. Structural insight into processive human mitochondria l DNA synthesis and disease-related polymerase mutations. (PubMed id 19837034)1, 9 Lee Y.S....Yin Y.W. (2009)
    9. DNA binding properties of human pol gammaB. (PubMed id 12379656)1, 9 Carrodeguas J.A....Bogenhagen D.F. (2002)
    10. A p.R369G POLG2 mutation associated with adPEO and mul tiple mtDNA deletions causes decreased affinity between polymerase g subunits. (PubMed id 22155748)1 Craig K....Taylor R.W. (2012)

    External Searches for POLG2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing POLG2 gene

    (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

    Other Databases showing POLG2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing POLG2 gene

    (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

    Intellectual Property
    for POLG2 gene

    (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

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