V3 here soon-try beta now
Gene Search (GeneCards Home) | GeneCards Guide | User Feedback | Terms of Use | Notice about third-party sites
 

XRCC6 Gene

protein-coding   GIFtS: 69

GC22P040342
X-ray repair complementing defective repair in Chinese hamster cells 6
(Previous names: thyroid autoantigen 70kD (Ku antigen), thyroid autoantigen 70kDa (Ku antigen) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: G22P1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
CTC75 2, 3
CTCBF 2, 3
D22S671 1
D22S731 1
EC 3.6.1.- 3
G22P1 2, 3
KU70 1, 2
Ku70 3
ML8 1, 2
OTTHUMP00000028581 2
TLAA 2, 3
Descriptions
70 kDa subunit of Ku antigen 3
ATP-dependent DNA helicase II 70 kDa subunit 3
ATP-dependent DNA helicase II, 70 kDa subunit 2
CTC box binding factor 75 kDa subunit 2
CTC box-binding factor 75 kDa subunit 3
DNA repair protein XRCC6 3
Ku autoantigen p70 subunit 2
Ku autoantigen, 70kDa 2
Lupus Ku autoantigen protein p70 3
Thyroid-lupus autoantigen 3
X-ray repair complementing defective repair in Chinese
hamster cells 6 2
thyroid autoantigen 70kD (Ku antigen) 1, 2
thyroid autoantigen 70kDa (Ku antigen) 1, 2
thyroid-lupus autoantigen p70 2
External Ids
HGNC: 40551
Entrez Gene: 25472
UniProtKB: P129563
Ensembl: ENSG000001964197
Search outside databases for aliases for XRCC6 gene

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

EntrezGene summary for XRCC6:
The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of
approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent
ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such
as that required for double-strand break repair, transposition, and V(D)J recombination. High
levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus
erythematosus. [provided by RefSeq]

UniProtKB/Swiss-Prot: KU70_HUMAN, P12956
Function: Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome
translocation. The DNA helicase II complex binds preferentially to fork-like ends of
double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to
DNA may be mediated by p70. Involved in DNA nonhomologous end joining (NHEJ) required for
double-strand break repair and V(D)J recombination. The Ku p70/p86 dimer acts as regulatory
subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the
catalytic subunit PRKDC to DNA by 100-fold. The Ku p70/p86 dimer is probably involved in
stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA
ends is required for the NHEJ ligation step. Required for osteocalcin gene expression (By
similarity)

Gene Wiki entry for XRCC6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the XRCC6 gene  

Entrez Gene cytogenetic band: 22q13.2-q13.31   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q11-q13

XRCC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P040342:     (about GC identifiers)

Start:
40,347,241 bp from pter
End:
40,389,998 bp from pter
Size:
42,758 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011520.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: KU70_HUMAN, P12956 (See protein sequence)
Recommended Name: ATP-dependent DNA helicase 2 subunit 1  
Size: 609 amino acids; 69843 Da
Subunit: Heterodimer of a 70 kDa and a 80 kDa subunit. The dimer associates in a DNA-dependent
manner with PRKDC to form the DNA-dependent protein kinase complex DNA-PK, and with the LIG4-XRCC4
complex. The dimer also associates with NARG1, and this complex binds to the osteocalcin promoter
and activates osteocalcin expression. In addition, the 70 kDa subunit binds to the
osteoblast-specific transcription factors MSX2, RUNX2 and DLX5. Interacts with ELF3. Interactis
with XRCC6BP1
Subcellular location: Nucleus
Developmental stage: Expression does not increase during promyelocyte differentiation
PDB structures from and Proteopedia :
1JEQ (3D)    1JEY (3D)    1JJR (3D)    
Secondary accessions: Q6FG89 Q9UCQ2 Q9UCQ3

Post-translational modifications:

  • Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect
    DNA repair1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001460.1  

    ENSEMBL proteins: 
    ENSP00000352257 ENSP00000384104 ENSP00000384082 ENSP00000384257 ENSP00000384941 ENSP00000353192 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Ku70 + Ku80, Ku70)
    Human Recombinant Proteins from Abnova (XRCC6)
                  OriGene Purified Recombinant Human Protein: XRCC6 

    5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000783 nuclear telomere cap complex TAS15100233
    GO:0005624 membrane fraction TAS2917966
    GO:0005634 nucleus TAS10508516
    GO:0005654 nucleoplasm EXP12023295 12065431
    GO:0005667 transcription factor complex IDA12145306
    About this table

    Antibodies for XRCC6: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of XRCC6
    Sigma-Aldrich Antibody Arrays and Antibodies for XRCC6
    R&D Systems Antibodies for XRCC6 (Ku70/XRCC6)
    Antibodies from Abcam (Ku70 + Ku80, Ku70), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (XRCC6)
    Novus Biologicals Antibodies for XRCC6

    Assays for XRCC6: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5 InterPro domains/families:
     IPR005160 Ku_C
     IPR005161 Ku_N
     IPR006165 DNA_helicase_ATP-dep_Ku70
     IPR003034 SAP_DNA_bd
     IPR006164 DNA_helicase_ATP-dep_Ku


       GeneDecks  XRCC6 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P12956

    ProtoNet protein and cluster: P12956

    2 Blocks protein families:
    IPB003034 DNA-binding SAP
    IPB005160 Ku70/Ku80 C-terminal arm


    UniProtKB/Swiss-Prot: KU70_HUMAN, P12956
    Similarity: Belongs to the ku70 family
    Similarity: Contains 1 Ku domain
    Similarity: Contains 1 SAP domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (XRCC6)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (XRCC6)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001469

                  Applied Biosystems Silencer® siRNAs for XRCC6

                  Sigma-Aldrich siRNA and siRNA Panels for XRCC6  
                         Sigma-Aldrich shRNA Panels and shRNA for XRCC6  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for XRCC6
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001469
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001469
                                     untagged cDNA clone in CMV expression vector: NM_001469 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001469

    UniProtKB/Swiss-Prot: KU70_HUMAN, P12956
    Function: Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome
    translocation. The DNA helicase II complex binds preferentially to fork-like ends of
    double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to
    DNA may be mediated by p70. Involved in DNA nonhomologous end joining (NHEJ) required for
    double-strand break repair and V(D)J recombination. The Ku p70/p86 dimer acts as regulatory
    subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the
    catalytic subunit PRKDC to DNA by 100-fold. The Ku p70/p86 dimer is probably involved in
    stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA
    ends is required for the NHEJ ligation step. Required for osteocalcin gene expression (By
    similarity)
    Induction: In osteoblasts, by FGF2
    Enzyme Number (IUBMB): EC 3.6.1.- 

    7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Xrcc6):

    behavior/neurologicalcellulargrowth/sizehematopoietic systemimmune system
    reproductive systemtumorigenesis

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding NAS1537839
    GO:0003691contributes to double-stranded telomeric DNA binding IDA10409678
    GO:0004003 ATP-dependent DNA helicase activity TAS7957065
    GO:0008022 protein C-terminus binding IPI10783163
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for XRCC6
     DNA damage NHEJ mechanisms of DSBs repair

       GeneDecks  XRCC6 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for XRCC6):
     hsa03450 Non-homologous end-joining

       GeneDecks  XRCC6 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  XRCC6 


    5/390 Interacting proteins for XRCC6 (ENSP000003522573 P129561, 2) via UniProtKB, MINT, and/or STRING (see all 390 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BARD1Q997281STRING (score=.995) EBI-353208, EBI-473181
    TCF7L2Q9NQB01STRING (score=.939) EBI-353208, EBI-924724
    TP53P046371STRING (score=.993) EBI-353208, EBI-366083
    PARP1P098742STRING (score=.897) MINT-4790124
    PRKDCP785272STRING (score=.999) MINT-4790124
    About this table

    5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723 telomere maintenance TAS15824061
    GO:0006266 DNA ligation TAS9826654
    GO:0006303 double-strand break repair via nonhomologous end joining TAS10508516
    GO:0006974 response to DNA damage stimulus IEA--
    GO:0010212 response to ionizing radiation IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for XRCC6
    2 Novoseek chemical compound relationships for XRCC6 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-350 78.93 1 7724535 (1)
    threonine 33.65 1 14556663 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (XRCC6)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (XRCC6)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001469

                  Sigma-Aldrich siRNA and siRNA Panels for XRCC6  
                         Sigma-Aldrich shRNA Panels and shRNA for XRCC6  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001469  

    REFSEQ mRNAs for XRCC6 gene: 

    NM_001469.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001469  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001469
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001469
                                     untagged cDNA clone in CMV expression vector: NM_001469 

    Additional cDNA sequence: 

    AF052148.1 AK055786.1 AK293439.1 AK304580.1 AK315618.1 BC001583.1 BC008343.1 BC010034.2 
    BC012154.2 BC018259.2 BC072449.1 CR456492.1 CR542219.1 CR590193.1 CR590825.1 CR590963.1 
    CR593727.1 CR596781.1 CR597340.1 CR597702.1 CR598672.1 CR599117.1 CR600608.1 CR601209.1 
    CR601883.1 CR602610.1 CR603871.1 CR606444.1 CR606919.1 CR608552.1 CR611977.1 CR612325.1 
    CR612909.1 CR613229.1 CR613344.1 CR615167.1 CR616120.1 CR617294.1 CR617974.1 CR619333.1 
    CR623859.1 CR624280.1 J04607.1 J04611.1 M32865.1 S38729.1 

    24/103 DOTS entries (see all 103 ):

    DT.97801829  DT.100891260  DT.92002298  DT.40237757  DT.91936042  DT.100891297  DT.100891332  DT.100891263 
    DT.100836467  DT.100753842  DT.91648729  DT.100891284  DT.97868396  DT.120633317  DT.95236564  DT.91893522 
    DT.100891236  DT.120633355  DT.120633509  DT.92353827  DT.100891303  DT.100891296  DT.100891329  DT.120633223 

    24/2465 AceView cDNA sequences (see all 2465 ):

    AA383710 CR613344 BU178141 AJ346533 BP372691 BX421842 BG742832 AU103803 
    AA315949 BP381938 BE385303 AW250300 CB118946 BP346052 BI335927 BP364611 
    BQ016735 BU684181 BM904957 BU172409 CR599117 BQ889991 BX387596 BQ892695 

    highest scoring ESTs for XRCC6:

    AA026057 AA069798 AA070441 AA083394 AA086181 AA090039 AA099019 AA099493 AA100555 AA101578 

    Unigene Cluster for XRCC6:

    X-ray repair complementing defective repair in Chinese hamster cells 6
    Hs.292493  [show with all ESTs]
    Unigene Representative Sequence: BC008343


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC6 (see all 6 )

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
    SP1:                                                                                      -                                         -         
    SP2:              -     -                                                                                                                     
    SP3:                    -                                                                                                                     
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          

    About this scheme

    ECgene alternative splicing isoforms for XRCC6

    6 Ensembl transcripts including schematic representations:
    ENST00000359308  ENST00000402409  ENST00000405506  ENST00000405878  ENST00000402580  ENST00000360079  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    XRCC6 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for XRCC6

    1 / 2 / 3

    6 probe-sets matching XRCC6 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    32766_at2, 3 U95-A 3 1.00 0.90 -0.60 1.28 Z83840 0.20 0.33 0.27 1
    32274_r_at*2, 3 U95-A 1 1.00 1.00 0.98 0.73 AF052148 0.60 1.00 0.82 1

    200792_at2, 3 U133-A 4 1.00 0.78 -- -- NM_001469 0.60 1.00 0.82 1

    215308_at*2, 3 U133-A 1 1.00 1.00 -- -- AF052148 0.60 1.00 0.82 1

    200792_at2 U133Plus2 4 1.00 0.78 -- -- -- -- -- -- --

    215308_at*2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  XRCC6 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GTGATGGTGT

    SOURCE GeneReport for Unigene cluster: Hs.292493

    Expression variation in blood from EXPOLDB for XRCC6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for XRCC6 gene from 5/20 species (see all 20 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    XRCC61   -- X-ray repair complementing defective repair in Chinese more 87.46(n)
    85.15(a)
    474485  XM_531714.2  XP_531714.1 
    chimpanzee
    (Pan troglodytes)
    XRCC61   -- X-ray repair complementing defective repair in Chinese more 96.14(n)
    95.37(a)
    465902  XM_521301.2  XP_521301.2 
    cow
    (Bos taurus)
    XRCC61   -- X-ray repair complementing defective repair in Chinese more 86.83(n)
    85.62(a)
    510132  XM_587237.3  XP_587237.2 
    rat
    (Rattus norvegicus)
    Xrcc61   -- X-ray repair complementing defective repair in Chinese more 83.11(n)
    83.47(a)
    25019  NM_139080.1  NP_620780.1 
    mouse
    (Mus musculus)
    Xrcc61, 5 15 (47.50 cM)5
    X-ray repair complementing defective repair in Chinese more1, 5 82.56(n)1
    83.66(a)1
    143751  XM_001479829.11  XP_001479879.11 
     AB0102825  AF4835005  (see all 32)
    About this table        Species with no ortholog for XRCC6

    ENSEMBL Gene Tree for XRCC6
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Pseudogenes
    3 related pseudogenes


    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/365 NCBI SNPs in XRCC6 are shown (see all 365 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 112)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs283847881,2
    C,F40390132(+) GGGTGA/GGAGTG 1 -- ng317Minor allele frequency- G:0.10NS 654
    --
    rs115573511,2
    H40362526(+) TTTCCA/GAGACA 1 Q/R mis1 ese34Minor allele frequency- G:0.00EU EA WA 406
    rs283847871,2
    F40390037(+) GCATCC/TAAAAC 1 -- ng311Minor allele frequency- T:0.03NS 160
    --
    rs115573481,2
    H40362533(-) CCCATC/GATGTC 1 M/I mis1 ese34Minor allele frequency- G:0.00EU EA WA 382
    --
    rs283847861,2
    F40389774(+) GAGGCC/TGCGCG 1 -- ut31 ese31Minor allele frequency- T:0.02NS 178
    rs57583991,2
    H40362081(+) TGTACA/TTCAGT 1 I/F mis1 ese34Minor allele frequency- T:0.00EU EA WA 418
    --
    rs1327881,2
    A,C,F,H,O40389714(+) AGTGGG/TCTGAA 1 G/G syn19Minor allele frequency- T:0.23MN NA NS EU EA WA 1110
    rs1327741,2
    A,C,F,H,O40361899(+) TTATGG/CCCATT 1 -- int113Minor allele frequency- C:0.25MN EU EA WA NS NA 1466
    rs72897761,2
    A,C,F,H40364379(+) ttactG/Ctaggc 1 -- int15Minor allele frequency- C:0.02EU EA WA NS 590
    --
    rs57583971,2
    A,C,F,H40349197(+) aatttT/Cttaat 1 -- int15Minor allele frequency- C:0.12EU EA WA NS 586
    About this table

    HapMap Linkage Disequilibrium images for XRCC6 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 152690

    UniProtKB/Swiss-Prot: KU70_HUMAN, P12956
  • Individuals with systemic lupus erythematosus (SLE) and related disorders produce
    extremely large amounts of autoantibodies to p70 and p86. Existence of a major autoantigenic
    epitope or epitopes on the C-terminal 190 amino acids of p70 containing the leucine repeat. The
    majority of autoantibodies to p70 in most sera from patients with SLE seem to be reactive with
    this region
  • 10/17 Novoseek disease relationships for XRCC6 gene (see all 17 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    bloom syndrome 53.34 1 15184650 (1)
    ataxia telangiectasia 47.36 3 12210072 (3)
    cancer 21.07 6 17982634 (4), 12698192 (1), 15205359 (1)
    nsclc 19.97 1 15273727 (1)
    tumors 18.18 38 12810658 (5), 18546291 (5), 16029807 (4), 15254745 (3) (see all 12)
    myeloid leukemia 16.64 3 12019155 (1), 12702565 (1)
    colon cancer 8.83 3 15205359 (2), 11731412 (1)
    carcinoma 8.41 4 16827151 (3), 11104569 (1)
    colon carcinoma 4.79 1 15827325 (1)
    shock 0.00 5 18378183 (2), 12810658 (1), 8955709 (1)
    About this table

    Human Gene Mutation Database: XRCC6
    Genetic Association Database: XRCC6
    Human Genome Epidemiology Navigator: XRCC6 (18 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/284 PubMed articles for XRCC6 gene (see all 284 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 2547 HGNC: 4055 AceView: G22P1 Ensembl:ENSG00000196419 euGenes: HUgn2547
    ECgene: XRCC6 H-InvDB: XRCC6
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for XRCC6 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/g22p1/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for XRCC6:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for XRCC6-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for XRCC6 Antibodies for XRCC6
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for XRCC6 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
     Antibodies   Primer Pairs  
     Cell Culture Products   ELISAs  
     Flow Cytometry Kits   Protease Activity Assays & Reagents  
     Cell Selection/Detection Kits & Reagents   ELISA/Assay Development Kits & Reagents  
     Multiplex/Array Assay Kits & Reagents   ELISpot Kits & Development Modules  
     Recombinant & Natural Proteins  

     Recombinant Proteins (XRCC6)
     Antibodies (XRCC6)
     Chimera RNAi (XRCC6)
     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
     Search for Antibodies & Assays

     Recombinant Proteins
    (Ku70 + Ku80, Ku70)
     Antibodies (Ku70 + Ku80, Ku70)
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for XRCC6




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for XRCC6

    GeneCards Homepage    -    Last full update: 2 Jul 2009        Incremental update: 13 Oct 2009

    Random Gene From GIFtS : about GIFtS

    Gene Index:   3   5   A   B   C   D   E   F   G   H   I   J   K   L   M   N   O   P   Q   R   S   T   U   V   W   X   Y   Z

    Developed at the Crown Human Genome Center & Weizmann Institute of Science



    The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
    XRCC6 Gene at Home site.
    Version 2.41.1
    server5.xennexinc.com