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FLASH GENE
Symbol XRCC2 contributors: mct/npt/pgu - updated : 09-04-2021
HGNC name X-ray repair complementing defective repair in Chinese hamster cells 2
HGNC id 12829
Corresponding disease
FANCU Fanconi anemia, complementation group U
POF17 premature ovarian failure 17
Location 7q36.1      Physical location : 152.343.588 - 152.373.250
Synonym name
  • repair X-ray defect complementing defect in CHO cells 2
  • DNA repair protein XRCC2
  • RAD51-like
  • epididymis secretory sperm binding protein
    • Synonym symbol(s) XRC2, DKFZp781P0919, BCDX2
    DNA
    TYPE functioning gene
    STRUCTURE 29.67 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D7S676 - D7S688 - D7S505 - [D7S642 - D7S483 - D7S798 - D7S637 - D7S237 - D7S203 - D7S263 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3094 31.8 280 - 1995 7607692
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Nervousbrain    
    Reproductivefemale systembreastmammary gland highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies paralog to RAD51
    Homologene
    FAMILY
  • RECA family
  • RAD51 subfamily
    • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    text
  • XRCC2 and other HR proteins, including the key recombinase RAD51, co-localize with the centrosome
    • basic FUNCTION
  • promoting the repair of DNA double strand breaks by homologous recombination by faciliting
  • RAD51-dependent recombination repair
  • with BRCA2 protein are required for homologous recombination (but XRCC2 is not involved in transcription-associated recombination, TAR)
  • important function of XRCC2 is to enhance the activity of RAD51, so that the loss of XRCC2 results in a severe delay in the early response of RAD51 to DNA damage
  • RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3, play an essential role in the DNA repair reactions through homologous recombination
  • RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3 are key enzymes for DNA double-strand break repair
  • XRCC2 and XRCC3 complexes act at different stages of the homologous recombination (HR) pathway
  • integrally involved in HR and critical for the maintenance of genome integrity
  • XRCC2 regulates replication fork pogression during dinucleotide triphosphate (dNTP) alterations
  • RAD51B, RAD51C, RAD51D, XRCC2, XRCC3 sequentially orchestrate clinically relevant transactions at replication forks, cooperatively promoting fork remodeling and restart
    • CELLULAR PROCESS nucleotide, repair, recombination
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    pathway in cells for the repair of severe DNA damage such as double-strand breaks
    a component XRCC2 is a 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
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAD51D
  • in response to DNA damage, the XRCC2 complex acts downstream of BRCA2 recruitment but upstream of RAD51 recruitment
  • HELQ is associated with the RAD51 paralogs RAD51B/C/D and XRCC2, and with the DNA damage-responsive kinase ATR
  • XRCC2 and XRCC4, were transcriptionally activated by ZNF281 through a DNA-binding-dependent mechanism
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCU , XRCC2 , POF17
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    cells deficient in XRCC2 show disruption of the centrosome, a key component of the mitotic apparatus
    tumoral     --over  
    promotes colorectal cancer (CRC) cell proliferation and enriches cells in the G0/G1 phase but inhibits apoptosis
    tumoral germinal mutation      
    germinal deleterious variants in the RAD51 paralogs to breast and ovarian cancers
    Susceptibility
  • to breast cancer with younger-onset
  • to ovarian carcinoma
    • Variant & Polymorphism
  • R188H polymorphism increase the risk of breast cancer
  • XRCC2 rs3218536, R188H, showed some evidence of a protective association for the rare allele
  • XRCC2 (R188H) allele reduces risk to epithelial ovarian cancer, the increased XRCC2 activity with the R188H polymorphism may have clinical benefit in preventing cancer risk
  • XRCC2 SNPs may influence breast cancer risk and survival
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous disruption of murine Xrcc2 results in embryonic lethality occurring from mid-gestation, with Xrcc2-/- embryonic cells exhibiting high levels of chromosome aberrations