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

POLG Gene

protein-coding   GIFtS: 65
GCID: GC15M089859

Polymerase (DNA Directed), Gamma

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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)
About This Section

Aliases
Polymerase (DNA Directed), Gamma1 2     MIRAS2 5
POLG12 3 5     MTDPS4A2 5
POLGA2 3 5     MTDPS4B2 5
Mitochondrial DNA Polymerase Catalytic Subunit2 3     PEO2 5
MDP12 3     SANDO2 5
PolG-alpha2 3     SCAE2 5
EC 2.7.7.73 8     DNA Polymerase Subunit Gamma-12

External Ids:    HGNC: 91791   Entrez Gene: 54282   Ensembl: ENSG000001405217   OMIM: 1747635   UniProtKB: P540983   

Export aliases for POLG gene to outside databases

Previous GC identifers: GC15M086198 GC15M083225 GC15M087446 GC15M087589 GC15M087559 GC15M087660 GC15M065971


(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 POLG Gene:
Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic
subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded
protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a
cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic
neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial
neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for POLG Gene: 
POLG (polymerase (DNA directed), gamma) is a protein-coding gene. Diseases associated with POLG include alpers syndrome, and status epilepticus, and among its related super-pathways are Metabolism and Chks in Checkpoint Regulation. GO annotations related to this gene include chromatin binding and DNA-directed DNA polymerase activity.

UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098
Function: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA

Gene Wiki entry for POLG 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_000015.9  NC_018926.2  NT_010274.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLG gene promoter:
         STAT5B   STAT1   STAT4   HTF   STAT6   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLG promoter sequence
   Search SABiosciences Chromatin IP Primers for POLG

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


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

Entrez Gene cytogenetic band: 15q25   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q24

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M089859:  view genomic region     (about GC identifiers)

Start:
89,859,534 bp from pter      End:
89,878,092 bp from pter
Size:
18,559 bases      Orientation:
minus strand

(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: DPOG1_HUMAN, P54098 (See protein sequence)
Recommended Name: DNA polymerase subunit gamma-1  
Size: 1239 amino acids; 139562 Da
Cofactor: Magnesium
Subunit: Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits
Subcellular location: Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid
1 PDB 3D structure from and Proteopedia for POLG:
3IKM (3D)    
Secondary accessions: Q8NFM2 Q92515

Explore the universe of human proteins at neXtProt for POLG: NX_P54098

Explore proteomics data for POLG at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54098

  • 4/25 DME Specific Peptides for POLG (P54098) (see all 25)
     CISIHDE  AFFSAVD  GHNVSFD  GSELKAM 

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

    POLG Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001119603.1  NP_002684.1  

    ENSEMBL proteins: 
     ENSP00000268124   ENSP00000399851   ENSP00000432885   ENSP00000431395   ENSP00000433502  
     ENSP00000432389   ENSP00000434937  

    Human Recombinant Protein Products for POLG: 
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    Novus Biologicals POLG Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS8884268
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005760gamma DNA polymerase complex IEA--
    GO:0042645mitochondrial nucleoid IDA18063578

    POLG for ontologies           About GeneDecksing



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    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

    5 InterPro protein domains:
     IPR016265 DNA-dir_DNA_pol_A_mt_sub
     IPR019760 DNA-dir_DNA_pol_A_CS
     IPR001098 DNA-dir_DNA_pol_A_palm_dom
     IPR012337 RNaseH-like_dom
     IPR002297 DNA-dir_DNA_pol_A_mt

    Graphical View of Domain Structure for InterPro Entry P54098

    ProtoNet protein and cluster: P54098

    2 Blocks protein domains:
    IPB001098 DNA-directed DNA polymerase
    IPB002297 DNA-polymerase gamma (family A) signature


    UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098
    Similarity: Belongs to the DNA polymerase type-A family


    POLG 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: DPOG1_HUMAN, P54098
    Function: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Genatlas biochemistry entry for POLG:
    polymerase,(DNA directed) gamma,139.5kDa mitochondrial,with a (CAG)n repeat in the first exon,not altered in
    disorders with mitochondrial genome instability

         Enzyme Number (IUBMB): EC 2.7.7.71 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI14739292
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IDA18063578
    GO:0003887DNA-directed DNA polymerase activity IDA15164064
         
    POLG for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for POLG:
     Synthetic lethal with Ras 

         15/18 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Polg) (see all 18):
     adipose tissue  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  immune system 
     integument  mortality/aging  muscle  nervous system  no phenotypic analysis 

    POLG for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Polgtm1.2Lrsn for POLG

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

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

    miRNA
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    hsa-miR-4293 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidPOLG 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLG


    (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 POLG About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    3Nucleotide Metabolism
    Nucleotide Metabolism
    4Cell Cycle Control of Chromosomal Replication
    Cell Cycle Control of Chromosomal Replication

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for POLG
        Nucleotide Metabolism


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


    POLG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POLG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/90 Interacting proteins for POLG (P540981, 2, 3 ENSP000002681244) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLG2Q9UHN11, 2, 3EBI-852624,EBI-852642 MINT-6167836 I2D: score=4 
    AGPAT1Q999433I2D: score=1 
    ENSG00000206324Q999433I2D: score=1 
    ENSG00000226467Q999433I2D: score=1 
    ENSG00000227642Q999433I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006259DNA metabolic process TAS8884268
    GO:0006260DNA replication ----
    GO:0006261DNA-dependent DNA replication TAS3619920
    GO:0006264mitochondrial DNA replication IEA--
    GO:0006287base-excision repair, gap-filling IDA15177179

    POLG 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

    POLG for compounds           About GeneDecksing

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

    Browse Tocris compounds for POLG (DPOG1)

    7 HMDB Compounds for POLG    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    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--

    10/32 Novoseek inferred chemical compound relationships for POLG gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nucleoside 79.6 40 19287302 (3), 10949849 (1), 19364868 (1), 15319672 (1) (see all 34)
    stavudine 72.7 4 19364868 (2), 15373054 (1), 14767983 (1)
    dgtp 68.2 2 17354649 (1), 1921985 (1)
    diethyl dithiocarbamate 67 7 15373054 (1), 14767983 (1), 17452351 (1), 18375634 (1) (see all 5)
    zidovudine 66.5 6 18504416 (1), 1671889 (1), 1748434 (1), 8156147 (1) (see all 6)
    dttp 64.9 4 2164928 (3)
    fiau 64.7 2 8622980 (2)
    didanosine 62.3 2 15373054 (1), 14767983 (1)
    ddttp 60.2 3 1691020 (1), 11077262 (1)
    triphosphate 54.1 4 8293572 (3), 11376566 (1)

    Search CenterWatch for drugs/clinical trials and news about POLG / DPOG1

    (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 POLG gene (2 alternative transcripts): 
    NM_001126131.1  NM_002693.2  

    Unigene Cluster for POLG:

    Polymerase (DNA directed), gamma
    Hs.706868  [show with all ESTs]
    Unigene Representative Sequence: BC050559
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000268124(uc002bns.4 uc002bnr.4) ENST00000442287 ENST00000530292
    ENST00000526671 ENST00000530715 ENST00000528881 ENST00000532584 ENST00000526314
    ENST00000526398 ENST00000526573 ENST00000533857 ENST00000532363 ENST00000525806


    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate POLG:
    hsa-miR-4293 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidPOLG 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK130624.1 AK291281.1 AL110092.1 BC042571.1 BC050559.1 D84103.1 U60325.1 X98093.1 

    11 DOTS entries:

    DT.100715141  DT.217586  DT.99943140  DT.104041  DT.100780765  DT.91774945  DT.91774938  DT.95253535 
    DT.121036080  DT.100658680  DT.40216758 

    24/196 AceView cDNA sequences (see all 196):

    AW192997 AI816319 U60325 BE384049 BC050559 BM699635 CD672727 AA806858 
    BG259445 BM468562 BU687809 BQ010981 AI865047 BM915136 BQ687473 BE255263 
    CD246007 AK130624 X98093 CD615433 AI436164 BE535189 BQ214411 BM914450 

    GeneLoc Exon Structure

    5/22 Alternative Splicing Database (ASD) splice patterns (SP) for POLG (see all 22)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ·
    SP1:                                                                                                                                            -               
    SP2:                                                                                                                                            -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                            -               
    SP5:                                                                                                                                            -               

    ExUns: 12d ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27
    SP1:              -                                                                                                                                             
    SP2:              -                                                                                                                                             
    SP3:              -                                                                                                                                             
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for POLG

    (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

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


    POLG 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
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Kidney (Urinary System)
             renal vesicle e12.5   
     
     Blood (Hematopoietic System)
             cd14+ cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.706868
        SABiosciences Custom PCR Arrays for POLG
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    (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 animals and fungi.

    Orthologs for POLG gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polg1 , 5 polymerase (DNA directed), gamma1, 5 87.32(n)1
    88.09(a)1
      7 (45.04 cM)5
    189751  NM_017462.21  NP_059490.21 
     794487915 
    chicken
    (Gallus gallus)
    Aves POLG1 polymerase (DNA directed), gamma 74.42(n)
    75.03(a)
      404292  XM_425079.3  XP_425079.3 
    lizard
    (Anolis carolinensis)
    Reptilia POLG6
    polymerase (DNA directed), gamma
    70(a)
    1 ↔ 1
    GL343444.1(273262-327180)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978512 DNA polymerase gamma 75.04(n)    U49509.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.197902 Transcribed sequence with weak similarity to protein more 77.37(n)    BM775631.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tam1 , 3 DNA dependent DNA replication 3'-5'
    exodeoxyribonuclease3
    tamas1
    44(a)3
    54.15(n)1
    49.67(a)1
      2 34D63
    347921  NM_057473.31  NP_476821.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y57A10A.153   -- 37(a)   II(12189777-12199859)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MIP1(YOR330C)4
    MIP11
    Catalytic subunit of the mitochondrial DNA polymerase; more4
    Mip1p1
    49.27(n)1
    44.68(a)1
      15(943385-939621)4
    8545081, 4  NP_014975.21, 4 


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

    UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098
    Polymorphism: The poly-Gln region seems to be polymorphic


    10/848 SNPs in POLG are shown (see all 848)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0588914
    Mitochondrial DNA depletion syndrome 4A (MTDPS4A)4--see VAR_0588912 T S mis40--------
    VAR_0588764
    Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)4--see VAR_0588762 G D mis40--------
    VAR_0588804
    Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)4--see VAR_0588802 R Q mis40--------
    VAR_0121534
    Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)4--see VAR_0121532 R P mis40--------
    VAR_0236784
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)4--see VAR_0236782 G D mis40--------
    VAR_0588884
    Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)4--see VAR_0588882 R P mis40--------
    VAR_0236744
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)4--see VAR_0236742 Y C mis40--------
    VAR_0236794
    Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)4--see VAR_0236792 H Y mis40--------
    VAR_0588954
    Mitochondrial DNA depletion syndrome 4A (MTDPS4A)4--see VAR_0588952 H Y mis40--------
    VAR_0236664
    Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)4--see VAR_0236662 W R mis40--------

    HapMap Linkage Disequilibrium report for POLG (89859534 - 89878092 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for POLG:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676746CNV Deletion23128226
    esv2749999CNV Deletion23290073
    esv2750001CNV Deletion23290073
    esv2678873CNV Deletion23128226
    esv1642918CNV Deletion17803354
    esv2672032CNV Deletion23128226
    esv2750000CNV Deletion23290073
    esv270532CNV Insertion20981092
    esv23656CNV Loss19812545
    nsv833086CNV Loss17160897


    Human Gene Mutation Database (HGMD): POLG
    SABiosciences Cancer Mutation PCR Assays
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    (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: 174763   
    OMIM disorders: 258450  157640  613662  203700  607459  
    UniProtKB/Swiss-Prot: DPOG1_HUMAN, P54098
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
    [MIM:157640]: A disorder 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
    [MIM:258450]: A severe form of progressive external ophthalmoplegia. It is clinically more heterogeneous than the
    autosomal dominant forms. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder
    resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and
    peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and
    ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include
    myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/or
    seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia,
    dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]: An autosomal recessive hepatocerebral
    syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay,
    intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive
    liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features.
    The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual
    cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]: An autosomal recessive progressive
    multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal
    dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic
    neuropathy, and muscle weakness. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by
    the presence of focal, bilateral lesions in one or more areas of the central nervous system including the
    brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the
    central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia,
    weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/82 diseases for POLG (see all 82):    About MalaCards
    alpers syndrome    status epilepticus    polg-related disorders    recessive mitochondrial ataxic syndrome
    premature menopause    autosomal dominant progressive external ophthalmoplegia    autosomal recessive progressive external ophthalmoplegia    myoclonic epilepsy myopathy sensory ataxia
    sensory ataxic neuropathy, dysarthria, and ophthalmoparesis    childhood myocerebrohepatopathy spectrum disorders    mitochondrial dna depletion syndrome 4b    polg-related ataxia neuropathy spectrum disorders
    ophthalmoplegia    stress cardiomyopathy    mitochondrial dna depletion syndrome 1    febrile infection-related epilepsy syndrome
    cerebral folate deficiency    peripheral nervous system disease    acute liver failure    germ cell cancer

    8 diseases from the University of Copenhagen DISEASES database for POLG:
    Chronic progressive external ophthalmoplegia     Neuropathy     Brain disease     Myopathy
    Leigh disease     Mitochondrial encephalomyopathy     Spinocerebellar ataxia     Lactic acidosis

    POLG for disorders           About GeneDecksing


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

    10/38 Novoseek inferred disease relationships for POLG gene (see all 38)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpers syndrome 96.8 44 16545482 (4), 15929042 (2), 16177225 (2), 18294203 (2) (see all 24)
    progressive external ophthalmoplegia 94.8 43 12210792 (2), 12707443 (2), 12825077 (2), 12565911 (2) (see all 32)
    mitochondrial diseases 89.3 29 16401742 (3), 20083238 (2), 15913923 (2), 19251978 (1) (see all 21)
    mngie 83.8 7 12825077 (2), 19942242 (1), 19252805 (1)
    acidosis lactic 75 9 12859329 (1), 15373054 (1), 18680693 (1), 11508132 (1) (see all 6)
    mitochondrial myopathies 74.2 5 16155436 (1), 1324428 (1), 20399836 (1), 8156147 (1) (see all 5)
    lipodystrophy 68.6 19 19275594 (6), 15905734 (1)
    myopathy 65.2 3 15477547 (1), 15917273 (1), 8293572 (1)
    coenzyme q10 deficiency 63.4 2 16155436 (1), 17053512 (1)
    infertility male 62.1 13 15650046 (2), 11687794 (2), 18798765 (1), 14688158 (1) (see all 8)

    Genetic Association Database (GAD): POLG
    Human Genome Epidemiology (HuGE) Navigator: POLG (37 documents)

    Export disorders for POLG 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 POLG gene, integrated from 9 sources (see all 359):
    (articles sorted by number of sources associating them with POLG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (PubMed id 12975295)1, 2, 4, 9 Filosto M....DiMauro S. (2003)
    2. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. (PubMed id 18575922)1, 2, 4, 9 Virgilio R....Comi G.P. (2008)
    3. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (PubMed id 17420318)1, 2, 4, 9 Hudson G.... Chinnery P.F. (2007)
    4. Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility. (PubMed id 14688158)1, 4, 9 Jensen M....Rajpert-De Meyts E. (2004)
    5. Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study. (PubMed id 19275594)1, 4, 9 Chiappini F....Lemoine A. (2009)
    6. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. (PubMed id 15351195)1, 2, 9 Luoma P.... Suomalainen A. (2004)
    7. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. (PubMed id 16401742)1, 2, 9 Gonzalez-Vioque E.... Martin M.A. (2006)
    8. The unfolding clinical spectrum of POLG mutations. (PubMed id 19578034)1, 4, 9 Blok M.J....Smeets H.J. (2009)
    9. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. (PubMed id 16639411)1, 2, 9 Naimi M....Paquis-Flucklinger V. (2006)
    10. Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. (PubMed id 18828154)1, 2, 9 Taanman J.-W....Schapira A.H.V. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5428 HGNC: 9179 AceView: POLG Ensembl:ENSG00000140521 euGenes: HUgn5428
    ECgene: POLG Kegg: 5428 H-InvDB: POLG

    (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 POLG Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POLG
    NIEHS-SNPshttp://egp.gs.washington.edu/data/polg/

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

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



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