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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
    Physical map
    GTF2IP1 7q11.23 general transcription factor II, i, pseudogene 1 LOC389518 7 similar to Neutrophil cytosolic factor 1 LOC389519 7 similar to transcription factor GTF2IRD2 LOC389520 7 similar to Nuclear envelope pore membrane protein POM 121 (Pore membrane protein of 121 kDa) (P145) WBSCR20A 7q11.23 Williams Beuren syndrome chromosome region 20A TRIM50A 7q11.23 tripartite motif-containing 50A FKBP6 7q11.23 FK506 binding protein 6, 36kDa FZD9 7q11.23 frizzled homolog 9 (Drosophila) BAZ1B 7q11.23 bromodomain adjacent to zinc finger domain, 1B BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2 GTF2IRD1 7q11.23 GTF2I repeat domain containing 1 LOC389521 7 LOC389521 WBSCR23 7q11.23 Williams-Beuren syndrome chromosome region 23 GTF2I 7q11.23 general transcription factor II, i GTF2IRD2 7q11.23 transcription factor GTF2IRD2 LOC389522 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PMS2L5 7q11-q22 postmeiotic segregation increased 2-like 5 LOC389523 7 similar to opposite strand transcription unit to Stag3; Gats protein WBSCR16 7q11.23 Williams-Beuren syndrome chromosome region 16 LOC389524 7 similar to transcription factor GTF2IRD2 NCF1 7q11.23 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1)
    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