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FLASH GENE
Symbol POLG2 contributors: mct - updated : 20-06-2012
HGNC name polymerase (DNA directed), gamma 2, accessory subunit
HGNC id 9180
Corresponding disease
PEO4 progressive external ophthalmoplegia 4
Location 17q23.3      Physical location : 62.473.903 - 62.493.184
Synonym name
  • mitochondrial DNA polymerase, accessory subunit
  • pol gammaB
  • Synonym symbol(s) MTPOLB, HP55, POLB, POLGB, PEOA4, MTPOLB, POLG-BETA
    EC.number 2.7.7.7
    DNA
    TYPE functioning gene
    STRUCTURE 19.28 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    LOC388410 17 LOC388410 CSH2 17q23.3-q24.2 chorionic somatomammotropin hormone 2 GH2 17q23 growth hormone 2 CSH1 17q23.3-q24.2 chorionic somatomammotropin hormone 1 (placental lactogen) CSHL1 17q23.3-q24.2 chorionic somatomammotropin hormone-like 1 GH1 17q24 growth hormone 1 CD79B 17q23 CD79B antigen (immunoglobulin-associated beta) SCN4A 17q23 sodium channel, voltage-gated, type IV, alpha ICAM2 17q23-q25 intercellular adhesion molecule 2 ERN1 16p12 ER to nucleus signalling 1 FLJ30999 17q24.2 hypothetical protein FLJ30999 HT008 17q24.2 uncharacterized hypothalamus protein HT008 LOC253013 17q24.2 similar to ribosomal protein L31 PECAM1 17q23 platelet/endothelial cell adhesion molecule (CD31 antigen) LOC284021 17q24.2 hypothetical protein LOC284021 POLG2 17q polymerase (DNA directed), gamma 2, accessory subunit DDX5 17q21 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 LOC90799 17q24.2 hypothetical protein BC009518 SMURF2 17q22-q23 hypothetical protein BC009518 LOC388411 17 similar to Importin alpha-2 subunit (Karyopherin alpha-2 subunit) (SRP1-alpha) (RAG cohort protein 1) LOC390807 17 hypothetical gene supported by AK097700 MGC40489 17q24 hypothetical protein MGC40489 LOC388412 17 LOC388412 KIAA0563 17q24.2 LOC388412 LOC390808 17 similar to solute carrier family 16, member 6; monocarboxylate transporter 6 LOC284020 17q24.2 similar to solute carrier family 16, member 6; monocarboxylate transporter 6 FLJ32065 17q24.2 hypothetical protein FLJ32065 GNA13 17q24 guanine nucleotide binding protein (G protein), alpha 13
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1607 55 485 - 2011 21555342
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     mouthtongue  highly
    Nervousbrain    
    Reproductivefemale systemuteruscervix highly
     male systemtestis   
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text stem cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • central zinc binding signature sequence
  • a C terminal leucine zipper motif
  • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • polymerase (DNA directed) gamma 2, accessory subunit, may be involved in protein biosynthesis
  • mitochondrial polymerase processivity subunit, stimulating the polymerase and exonuclease activities,
  • and increasing the processivity of the enzyme
  • key factor in the organization of mitochondrial DNA in multigenomic nucleoprotein complexes
  • exhibits a catalytic subunit- and substrate DNA-dependent dimerization
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    text mitochondrial
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds asymetrically to the catalytic subunit where each monomer of the homodimeric accessory subunit plays a distinct role in conferring processivity on POLG1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PEO4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    Gene-silencing increased nucleoid numbers
    constitutional     --over  
    over-expression of POLG2 reduced the number and increased the size of mitochondrial nucleoids
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • rs17650301 is a good candidate marker for urinary bladder cancer invasiveness
  • Therapy target
    ANIMAL & CELL MODELS