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FLASH GENE
Symbol POLE2 contributors: mct - updated : 17-11-2015
HGNC name polymerase (DNA directed), epsilon 2 (p59 subunit)
HGNC id 9178
Corresponding disease
SCIDP severe combined immunodeficiency with POLE2 defect
Location 14q21.3      Physical location : 50.110.277 - 50.154.935
Synonym name DNA polymerase epsilon subunit 2
Synonym symbol(s) DPE2
EC.number 2.7.7.7
DNA
TYPE anonymous DNA segment
STRUCTURE 44.87 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   transcription factor
text structure
  • transcription initiation sites
  • binding sites for Sp1, E2F, NF1
  • MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 1783 55 501 - 1998 9443964
    19 - 1861 - 527 - 1998 9443964
    17 - 1782 - 502 - 1998 9443964
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuterus  highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • part of the N-terminal region (comprising AA 85-250) was found to be responsible for the interaction with SAP18, and N-terminal catalytic domain is solely responsible for its ability to catalyze DNA synthesis
  • HOMOLOGY
    interspecies homolog to yeast dpb2
    Homologene
    FAMILY DNA polymerase epsilon subunit b family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • potential adaptor between the catalytic subunit and other accessory proteins
  • participates in DNA repair and in chromosomal DNA replication
  • may recruit histone deacetylase (HDAC) to the replication fork to modify the chromatin structure
  • CELLULAR PROCESS nucleotide, replication
    nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text nuclear genome
    PATHWAY
    metabolism
    signaling
    a component four subunits: POLE1, POLE2, POLE3 and POLE4
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SAP18 (interaction induced repression of transcription)
  • cell & other
    REGULATION
    Other regulated by 2 E2F -pocket protein complexes,one associated with sp1 and the other with NF1
    ASSOCIATED DISORDERS
    corresponding disease(s) SCIDP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS