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FLASH GENE
Symbol RFC2 contributors: mct - updated : 30-11-2010
HGNC name replication factor C (activator 1) 2, 40kDa
HGNC id 9970
Corresponding disease
WBS Williams Beuren syndrome
Location 7q11.23      Physical location : 73.645.833 - 73.668.738
Synonym name
  • activator 1
  • RF-C 40 kDa subunit
  • A1 40 kDa subunit
  • Synonym symbol(s) A1, RFC40, MGC3665
    DNA
    TYPE functioning gene
    STRUCTURE 22.91 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1613 - 320 - 1996 8651315
    11 - 1715 - 354 - 1996 8651315
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas   highly
    Nervousbrain   highly
    Reproductivemale systemprostate  highly
    Respiratorylung    
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a PCNA binding region,an ATP binding domain
  • a DEAD/H box (Asp-Glu-Ala-Asp/His)
  • mono polymer heteromer , pentamer
    HOMOLOGY
    interspecies homolog to murine Rfc2
    homolog to Drosophila rfc40
    homolog to C.elegans rfc-2
    intraspecies
    Homologene
    FAMILY
  • activator 1 small subunits family
  • AAA+ family of ATPase and ATPase-like proteins
  • CATEGORY regulatory , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • activator of DNA polymerases
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of complex A-1,DNA polymerase accessory protein "clamp loader", ATP dependent, required to assemble PCNA and polymerase delta on the DNA template
  • complex ATAD5-RFC2-RFC5 functions in a fundamental DNA metabolism to suppress genomic instability
  • heteropentamer of subunit of 140/145, 40,38, 37 and 36.5 kDa (RFC is a pentamer comprising a large subunit, RFC1, and four small subunits, RFC2-RFC5)
  • INTERACTION
    DNA binding
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • binding to PCNA
  • cell & other
    REGULATION
    activated by BCR/ABL
    Other regulated by RPA1 (plays a regulatory role in DNA damage responses via repression of RFC2 ubiquitylation in cells)
    ASSOCIATED DISORDERS
    corresponding disease(s) WBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS