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FLASH GENE
Symbol RAD51C contributors: mct/pgu - updated : 10-07-2019
HGNC name RAD51 homolog C (S. cerevisiae)
HGNC id 9820
Corresponding disease
FANCO Fanconi anemia, complementation group O
Location 17q22      Physical location : 56.769.962 - 56.811.690
Synonym name
  • DNA repair protein RAD51 homolog 3
  • yeast RAD51 homolog 3
  • RAD51-like protein 2
    • Synonym symbol(s) RECA, RAD51L2, MGC104277, R51H3, BROVCA3, FANCO
    DNA
    TYPE functioning gene
    STRUCTURE 41.73 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 1295 - 376 - 2007 17114795
    also called RAD51C-isoform 1
    2 splicing 607 - 135 - 2007 17114795
    also called RAD51C-isoform 2
    - splicing 1130 - 134 - 1998 9469824
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivepharynx   highly
    Endocrineparathyroid   highly
    Reproductivefemale systembreastmammary gland highly
     male systemprostate   
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a nuclear localization signal (NLS)
  • two ATP binding domains
    • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae Rad51,3
    intraspecies paralog to RAD51
    paralog to XRCC3
    Homologene
    FAMILY
  • RECA family
  • RAD51 subfamily
    • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in mitosis and meiotic recombination events
  • required for holliday junction processing in recombination process and for gene conversion
  • important role in maintaining correct centrosome numbers and the complexes including RAD51C and XRCC2 or XRCC3 may be of importance in maintaining correct centrosome numbers in mitosis
  • might be important in preventing aneuploidy, suggesting that it could be a potential tumour suppressor
  • adequate expression of RAD51C in cells is essential for maintaining genomic stability and sister chromatid cohesion to prevent malignant transformation
  • functions as TP53-dependent tumor suppressor gene
  • first moderate-to-high risk susceptibility gene for ovarian cancer
  • RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3, play an essential role in the DNA repair reactions through homologous recombination
  • rare breast and ovarian cancer susceptibility gene
  • plays a vital role in the homologous recombination-mediated repair of DNA lesions associated with replication
  • critical role of RAD51C in the Fanconi anemia pathway of interstrand cross-link repair and as a tumor suppressor
  • RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3 are key enzymes for DNA double-strand break repair
  • RAD51B and RAD51C act early in homologous recombination
  • likely a direct role of RAD51C/XRCC3 in maintaining mtDNA integrity under replication stress conditions
  • RAD51B, RAD51C, RAD51D, XRCC2, XRCC3 sequentially orchestrate clinically relevant transactions at replication forks, cooperatively promoting fork remodeling and restart
  • function of XRCC3 and other RAD51 paralogs in synergizing with RAD51 nucleoprotein filament to prevent degradation of stressed replication forks
    • CELLULAR PROCESS cell cycle, division
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    pathway in cells for the repair of severe DNA damage such as double-strand breaks
    a component
  • forms a complex that includes either XRCC2 or XRCC3
  • member of the BCDX2 protein complex—comprising RAD51B, RAD51C, RAD51D, and XRCC2—which is thought to have several functions in HR, including stabilization of RAD51 nucleoprotein filaments
  • RAD51C/XRCC3 is an additional component of the mitochondrial nucleoid having nucleus-independent roles in mtDNA maintenance
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAD51B and XRCC3
  • BRCA1 and BRCA2
  • XRCC3 and RAD51C have been implicated in homologous recombination (HR) and DNA damage responses
  • HELQ is associated with the RAD51 paralogs RAD51B/C/D and XRCC2, and with the DNA damage-responsive kinase ATR
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over gain of function
    in breast cancer (in progression)
    constitutional     --low  
    results in a dramatic decrease in mtDNA copy number as well as the complete suppression of a characteristic oxidative stress-induced copy number increase
    tumoral germinal mutation     loss of function
    in patients with primary ovarian, fallopian tube, or peritoneal cancers
    tumoral germinal mutation      
    in breast and/or ovarian cancer families
    tumoral germinal mutation      
    germinal deleterious variants in the RAD51 paralogs to breast and ovarian cancers
    Susceptibility
  • to breast and ovarian cancer
    • Variant & Polymorphism other
  • six monoallelic pathogenic mutations in RAD51C confer an increased risk for breast and ovarian cancer
  • relative risk of ovarian cancer for RAD51C mutation carriers was augmented
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS