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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

XRCC3 Gene

protein-coding   GIFtS: 60
GCID: GC14M104163

X-Ray Repair Complementing Defective Repair In Chinese Hamster...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells
31 2
X-Ray Repair Cross-Complementing Protein 32 3
CMM62 5
RAD51-like1
DNA Repair Protein XRCC32

External Ids:    HGNC: 128301   Entrez Gene: 75172   Ensembl: ENSG000001262157   OMIM: 6006755   UniProtKB: O435423   

Export aliases for XRCC3 gene to outside databases

Previous GC identifers: GC14M101555 GC14M097979 GC14M102153 GC14M103233 GC14M084342


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for XRCC3 Gene:
This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination
to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster
irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and
is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients
of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been
identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for XRCC3 Gene: 
XRCC3 (X-ray repair complementing defective repair in Chinese hamster cells 3) is a protein-coding gene. Diseases associated with XRCC3 include mutagen sensitivity, and skin cancer, and among its related super-pathways are Fluoropyrimidine Pathway, Pharmacokinetics and Homologous recombination. GO annotations related to this gene include DNA-dependent ATPase activity and ATP binding.

UniProtKB/Swiss-Prot: XRCC3_HUMAN, O43542
Function: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair
chromosomal fragmentation, translocations and deletions. Plays a role in regulating mitochondrial DNA copy number
under conditions of oxidative stress in the presence of RAD51 and RAD51C

Gene Wiki entry for XRCC3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the XRCC3 gene promoter:
         CHOP-10   GR   PPAR-gamma1   p53   GR-beta   PPAR-gamma2   GR-alpha   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXRCC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for XRCC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XRCC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.3   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.3

XRCC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XRCC3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M104163:  view genomic region     (about GC identifiers)

Start:
104,163,946 bp from pter      End:
104,181,841 bp from pter
Size:
17,896 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: XRCC3_HUMAN, O43542 (See protein sequence)
Recommended Name: DNA repair protein XRCC3  
Size: 346 amino acids; 37850 Da
Subunit: Interacts with RAD51C and RAD51. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3.
Forms a complex with FANCD2, BRCA2 and phosphorylated FANCG. Interacts with SWSAP1 and ZSWIM7; involved in
homologous recombination repair
Subcellular location: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion. Note=Accumulates in
discrete nuclear foci prior to DNA damage, and these foci persist throughout the time course of DNA repair
Secondary accessions: O43568 Q9BU18

Explore the universe of human proteins at neXtProt for XRCC3: NX_O43542

Explore proteomics data for XRCC3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43542

  • XRCC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    XRCC3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001093588.1  NP_001093589.1  NP_005423.1  

    ENSEMBL proteins: 
     ENSP00000451362   ENSP00000343392   ENSP00000451974   ENSP00000452598   ENSP00000451361  
     ENSP00000473569   ENSP00000451118   ENSP00000451252   ENSP00000451173   ENSP00000452389  
     ENSP00000450780   ENSP00000450738   ENSP00000412990  

    Human Recombinant Protein Products for XRCC3: 
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    Novus Biologicals XRCC3 Proteins
    Novus Biologicals XRCC3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XRCC3 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16215984
    GO:0005737cytoplasm IDA16215984
    GO:0005739mitochondrion IDA--
    GO:0048471perinuclear region of cytoplasm IDA16215984

    XRCC3 for ontologies           About GeneDecksing



    XRCC3 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for XRCC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR020588 DNA_recomb_RecA/RadB_ATP-bd
     IPR016467 DNA_recomb/repair_RecA-like
     IPR027417 P-loop_NTPase
     IPR013632 DNA_recomb/repair_Rad51_C

    Graphical View of Domain Structure for InterPro Entry O43542

    ProtoNet protein and cluster: O43542

    UniProtKB/Swiss-Prot: XRCC3_HUMAN, O43542
    Similarity: Belongs to the RecA family. RAD51 subfamily


    XRCC3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XRCC3_HUMAN, O43542
    Function: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair
    chromosomal fragmentation, translocations and deletions. Plays a role in regulating mitochondrial DNA copy number
    under conditions of oxidative stress in the presence of RAD51 and RAD51C
    Induction: Stress-induced increase in the mitochondrial levels is seen

         Genatlas biochemistry entry for XRCC3:
    repair X-ray defect,complementing defect in CHO cells,3,involved in recombinational repair,interacting with RAD51
    for maintenance of genomic integrity

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003899DNA-directed RNA polymerase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0008094DNA-dependent ATPase activity IEA--
         
    XRCC3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for XRCC3:
     Synthetic lethal with cisplati  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for XRCC3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XRCC3 
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    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for XRCC3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fluoropyrimidine Activity
    Fluoropyrimidine Activity0.69
    2Homologous recombination
    Homologous recombination0.40
    3Fluoropyrimidine Pathway, Pharmacodynamics
    Fluoropyrimidine Pathway, Pharmacodynamics
    4Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for XRCC3
        Fluoropyrimidine Activity
    Integrated Breast Cancer Pathway

    1 PharmGKB Pathway for XRCC3
        Fluoropyrimidine Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for XRCC3):
        Homologous recombination


    XRCC3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XRCC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/15 Interacting proteins for XRCC3 (O435421, 3 ENSP000003433924) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCGO152873, ENSP000003679104I2D: score=3 STRING: ENSP00000367910
    RAD51CO435023, ENSP000003367014I2D: score=3 STRING: ENSP00000336701
    BRCA2P515873, ENSP000003694974I2D: score=1 STRING: ENSP00000369497
    RAD51Q066093, ENSP000002678684I2D: score=1 STRING: ENSP00000267868
    ZNHIT3Q156493, ENSP000002254104I2D: score=1 STRING: ENSP00000225410
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006259DNA metabolic process ----
    GO:0006281DNA repair IGI10422536
    GO:0006310DNA recombination IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006974response to DNA damage stimulus TAS7603995

    XRCC3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    XRCC3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for XRCC3

    10/11 Novoseek inferred chemical compound relationships for XRCC3 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pcb 153 61 9 19069643 (2), 18948301 (1)
    mitomycin c 42.3 3 7603995 (1), 17141189 (1)
    cisplatin 33.2 8 15843498 (2), 16622263 (1), 17141189 (1)
    folate 29 7 19177501 (2), 16997330 (2), 19360465 (1), 15066914 (1) (see all 5)
    benzene 20.3 8 18095557 (3), 17535647 (2), 17605237 (2), 16728435 (1)
    camptothecin 16.3 2 12584174 (2)
    melphalan 13.1 7 11584063 (4), 15843498 (1)
    n acetylcysteine 11.7 1 19069643 (1)
    p003 1.68 2 12007561 (1), 12865926 (1)
    methionine 0 2 17701750 (1), 12223443 (1)

    Search CenterWatch for drugs/clinical trials and news about XRCC3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for XRCC3 gene (3 alternative transcripts): 
    NM_001100118.1  NM_001100119.1  NM_005432.3  

    Unigene Clusters for XRCC3:

    X-ray repair complementing defective repair in Chinese hamster cells 3
    Hs.592325  [show with all ESTs], Hs.733412  [show with all ESTs]
    Unigene Representative Sequences: BX368160, AK124498
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000554913(uc001yoa.4) ENST00000352127(uc001ynz.4) ENST00000554811
    ENST00000553264 ENST00000555055(uc001ynx.4 uc001yny.4) ENST00000554974
    ENST00000554774 ENST00000555451 ENST00000555832 ENST00000553807 ENST00000557439
    ENST00000553361 ENST00000556980 ENST00000555964 ENST00000555231 ENST00000556682
    ENST00000553332 ENST00000554170

    miRNA
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    Additional mRNA sequence: 

    AF035586.1 AK022829.1 AK023646.1 AK124498.1 AK296465.1 BC001036.1 BC002949.1 BC011725.2 
    BT007417.1 BX161398.1 

    19 DOTS entries:

    DT.99936700  DT.102838411  DT.100773069  DT.408842  DT.120790634  DT.75146282  DT.92051759  DT.100797026 
    DT.120790785  DT.100797028  DT.92063298  DT.432421  DT.120790878  DT.91974123  DT.95372736  DT.100693953 
    DT.100700104  DT.100762829  DT.95372738 

    24/151 AceView cDNA sequences (see all 151):

    CR622268 BU182143 BX333561 AK126706 BM128018 CB150648 BC001036 AA595441 
    BX385078 BM976502 BC073820 BQ213513 AF035586 BM915097 BE396817 CR613005 
    BM796198 BX388125 AK022829 BM803244 BM682035 BX161398 BC011725 CR603680 

    GeneLoc Exon Structure

    13 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC3 (see first 5)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:              -     -     -     -     -                       -                       -                       -     -     -                 -         
    SP2:                                -     -                       -                       -                                                               
    SP3:              -     -           -     -                       -                       -                                                               
    SP4:              -     -     -     -     -                       -                       -                                                               
    SP5:                                -     -                       -                       -                       -     -     -                           
    SP6:              -                 -     -                       -                                                                                       
    SP7:              -     -     -                                   -                                                                                       
    SP8:              -     -     -                       -           -                                                                                       
    SP9:              -     -     -     -     -                       -                                                                                       
    SP10:                                                              -                       -                                                               
    SP11:                    -     -     -     -                                                                                                               
    SP12:                                                                                      -                       -     -     -                           
    SP13:                                                                                                                                                      


    ECgene alternative splicing isoforms for XRCC3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    XRCC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTGCAGC
    XRCC3 Expression
    About this image


    See XRCC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XRCC3

    SOURCE GeneReport for Unigene clusters: Hs.592325 Hs.733412
        SABiosciences Expression via Pathway-Focused PCR Arrays including XRCC3: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for XRCC3 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xrcc31 , 5 X-ray repair complementing defective repair in Chinese more1, 5 76.97(n)1
    73.7(a)1
      12 (61.14 cM)5
    743351  NM_028875.21  NP_083151.11 
     1118031925 
    chicken
    (Gallus gallus)
    Aves XRCC31 X-ray repair complementing defective repair in Chinese more 62.34(n)
    62.24(a)
      423485  NM_001006489.1  NP_001006489.1 
    lizard
    (Anolis carolinensis)
    Reptilia XRCC36
    X-ray repair complementing defective repair in Chi...
    51(a)
    1 ↔ 1
    1(6024977-6038048)
    zebrafish
    (Danio rerio)
    Actinopterygii xrcc31 X-ray repair complementing defective repair in Chinese more 57.97(n)
    53.33(a)
      541414  NM_001013541.1  NP_001013559.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spn-B1 spindle B 47.06(n)
    39.92(a)
      41746  NM_057392.4  NP_476740.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD576
    Protein that stimulates strand exchange by stabili...
    15(a)
    1 ↔ 1
    IV(455201-456583)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons XRCC31 DNA repair protein XRCC3-like protein 42.4(n)
    36.4(a)
      835850  NM_125127.2  NP_200554.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g05621001 hypothetical protein 49.65(n)
    39.33(a)
      4329686  NM_001053685.1  NP_001047150.1 


    ENSEMBL Gene Tree for XRCC3 (if available)
    TreeFam Gene Tree for XRCC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/376 SNPs in XRCC3 are shown (see all 376)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0130064
    ----see VAR_0130062 T M mis40--------
    VAR_0292954
    ----see VAR_0292952 G R mis40--------
    VAR_0292964
    ----see VAR_0292962 R H mis40--------
    rs2016475951,2
    --84346512(+) AAAAA-/AAGAGAAG 3 -- int10--------
    rs1862585041,2
    C--84346747(+) CTGCTA/GCCCCA 3 -- int10--------
    rs1392321221,2
    --84346839(+) GCTCTC/TTGCAA 3 -- int10--------
    rs1499582341,2
    --84346880(+) AGCCAA/GTGTCT 3 -- int10--------
    rs32120921,2
    C,F,H--84346937(-) CAGCTC/TAGACA 3 -- int19Minor allele frequency- T:0.03NS EA NA 916
    rs1441897451,2
    --84346944(+) GCTGGA/GTGCCC 3 -- int10--------
    rs8615341,2
    C,F,H--84346994(-) AAGACG/AGCCCT 3 -- int119Minor allele frequency- A:0.24NS NA EA WA CSA 1068

    HapMap Linkage Disequilibrium report for XRCC3 (104163946 - 104181841 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for XRCC3 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749175CNV Deletion23290073
    nsv902308CNV Loss21882294
    nsv902313CNV Loss21882294
    dgv1996n71CNV Loss21882294
    nsv902314CNV Loss21882294
    dgv1995n71CNV Loss21882294
    nsv470673CNV Loss18288195
    nsv902300CNV Loss21882294
    nsv902315CNV Loss21882294
    nsv527425CNV Loss19592680


    Human Gene Mutation Database (HGMD): XRCC3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing XRCC3
    DNA2.0 Custom Variant and Variant Library Synthesis for XRCC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600675    OMIM disorders: --

    UniProtKB/Swiss-Prot: XRCC3_HUMAN, O43542
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast
    neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common
    type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated
    by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different
    families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry
  • Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972]: A malignant neoplasm of melanocytes, arising de novo
    or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 20/79 diseases for XRCC3 (see all 79):    About MalaCards
    mutagen sensitivity    skin cancer    barrett's adenocarcinoma    cutaneous malignant melanoma
    acoustic neuroma    diffuse gastric cancer    neuroma    biliary tract cancer
    esophageal adenocarcinoma    orofacial cleft    familial breast cancer    follicular lymphoma
    breast cancer susceptibility    t cell deficiency    oral submucous fibrosis    soft tissue sarcoma
    stomach cancer    ataxia telangiectasia    papillary thyroid carcinoma    lynch syndrome

    4 diseases from the University of Copenhagen DISEASES database for XRCC3:
    Xeroderma pigmentosum     Breast cancer     Lung cancer     Urinary bladder cancer

    XRCC3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/26 Novoseek inferred disease relationships for XRCC3 gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum 53.3 4 16707649 (1), 18630471 (1), 19307510 (1), 17630853 (1)
    chromosomal aberrations 49.7 5 16997330 (2), 17159780 (1), 17923529 (1)
    cancer 48 23 16791138 (4), 9542526 (3), 16137195 (3), 16707649 (3) (see all 12)
    bladder cancer 42.1 14 19815090 (2), 16284380 (2), 12223443 (1), 19429237 (1) (see all 7)
    breast cancer 41.9 26 19426727 (4), 19886181 (3), 12565173 (2), 12023982 (2) (see all 14)
    cancer lung 41.1 12 17034901 (3), 12618330 (2), 17705814 (2), 12917199 (1) (see all 8)
    ataxia telangiectasia 31.1 1 16966185 (1)
    skin cancer 30.3 2 15126335 (1), 16791138 (1)
    genetic susceptibility 23.6 1 18543213 (1)
    adenocarcinoma 21.9 4 16571649 (1), 16540687 (1), 18336773 (1)

    Genetic Association Database (GAD): XRCC3
    Human Genome Epidemiology (HuGE) Navigator: XRCC3 (267 documents)

    Export disorders for XRCC3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for XRCC3 gene, integrated from 9 sources (see all 396):
    (articles sorted by number of sources associating them with XRCC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variants in DNA double-strand break repair genes and breast cancer susceptibility. (PubMed id 12023982)1, 2, 4, 9 Kuschel B....Dunning A. (2002)
    2. A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. (PubMed id 11059748)1, 2, 4, 9 Winsey S.L.... Welsh K.I. (2000)
    3. XRCC3 genetic polymorphism, smoking, and lung carcinoma risk in minority populations. (PubMed id 14534887)1, 4, 9 Wang Y....Wu X. (2003)
    4. XRCC3 haplotypes and risk of gliomas in a Chinese population: a hospital-based case-control study. (PubMed id 19330829)1, 4, 9 Zhou K....Zhou L. (2009)
    5. Polymorphism of the homologous recombination repair genes RAD51 and XRCC3 in breast cancer. (PubMed id 19426727)1, 4, 9 Krupa R....Blasiak J. (2009)
    6. Variation in DNA repair genes ERCC2, XRCC1, and XRCC3 and risk of follicular lymphoma. (PubMed id 16492913)1, 4, 9 Smedby K.E....Adami H.O. (2006)
    7. [Relationship between polymorphisms of DNA repair gene XRCC3 and susceptibility to lung cancer] (PubMed id 18336773)1, 4, 9 Zhang Z.L....Su B. (2007)
    8. [Association between genetic polymorphisms of DNA repair genes XRCC1, XPD, XRCC3 and the capacity of DNA repair induce by benzene] (PubMed id 18095557)1, 4, 9 Xu J....et al . (2007)
    9. Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to cytostatics. (PubMed id 17159780)1, 4, 9 Musak L....Pec M. (2006)
    10. XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. (PubMed id 16707649)1, 4, 9 Manuguerra M....Matullo G. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7517 HGNC: 12830 AceView: XRCC3 Ensembl:ENSG00000126215 euGenes: HUgn7517
    ECgene: XRCC3 Kegg: 7517 H-InvDB: XRCC3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for XRCC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XRCC3 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/xrcc3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for XRCC3 gene:
    Search GeneIP for patents involving XRCC3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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