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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
    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