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

XRCC4 Gene

protein-coding   GIFtS: 64
GCID: GC05P082409

X-ray repair complementing defective repair in Chinese hamster...

 Explore 66 diseases affiliated with
XRCC4 via our new
 Human Malady Compendium 
Biological research products
for XRCC4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 41 2
X-Ray Repair Cross-Complementing Protein 42 3
DNA Repair Protein XRCC42
X-Ray Repair, Complementing Defective, Repair In Chinese Hamster2

External Ids:    HGNC: 128311   Entrez Gene: 75182   Ensembl: ENSG000001524227   OMIM: 1943635   UniProtKB: Q134263   

Export aliases for XRCC4 gene to outside databases

Previous GC identifers: GC05P081191 GC05P082600 GC05P082412 GC05P082457 GC05P077581


(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 XRCC4:
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the
repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The
non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene
functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks
produced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicing
generates several transcript variants. (provided by RefSeq, Sep 2008)

UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426
Function: Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J
recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation
step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on
the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends

Gene Wiki entry for XRCC4


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the XRCC4 gene promoter:
         STAT5B   AML1a   NRSF form 1   NRSF form 2   POU2F1   POU2F1b   POU2F1a   FOXO1a   POU2F1c   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): XRCC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for XRCC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XRCC4


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

Entrez Gene cytogenetic band: 5q14.2   Ensembl cytogenetic band:  5q14.2   HGNC cytogenetic band: 5q14.2

XRCC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XRCC4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P082409:  view genomic region     (about GC identifiers)

Start:
82,373,317 bp from pter      End:
82,649,606 bp from pter
Size:
276,290 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426 (See protein sequence)
Recommended Name: DNA repair protein XRCC4  
Size: 336 amino acids; 38287 Da
Subunit: Homodimer and homotetramer in solution. The homodimer associates with LIG4, and the LIG4-XRCC4 complex
associates in a DNA-dependent manner with the DNA-PK complex formed by the Ku p70/p86 dimer (XRCC6/XRCC5) and PRKDC.
Seems to interact directly with PRKDC but not with the Ku p70/86 dimer. Interacts with XLF/Cernunnos. Interacts with
APTX and APLF
Subcellular location: Nucleus
6/8 PDB 3D structures from and Proteopedia for XRCC4 (see all 8):
1FU1 (3D)        1IK9 (3D)        3II6 (3D)        3MUD (3D)        3Q4F (3D)        3RWR (3D)    
Secondary accessions: A8K3X4 Q9BS72 Q9UP94
Alternative splicing: 3 isoforms:  Q13426-1   Q13426-2   Q13426-3   

Explore the universe of human proteins at neXtProt for XRCC4: NX_Q13426

Post-translational modifications:

  • Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA. Phosphorylation by CK2
  • promotes interaction with APTX1
  • Monoubiquitinated1
  • Sumoylation at Lys-210 is required for nuclear localization and recombination efficiency. Has no effect on
  • ubiquitination1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13426

  • XRCC4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_003392.1  NP_071801.1  NP_072044.1  

    ENSEMBL proteins: 
     ENSP00000342011   ENSP00000379344   ENSP00000421491   ENSP00000282268  
    Reactome Protein details: Q13426
    Human Recombinant Protein Products: 
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    Novus Biologicals XRCC4 Proteins
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for XRCC4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000793NOT condensed chromosome IDA12589063
    GO:0005634nucleus NAS16439205
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol IDA9259561
    GO:0005958DNA-dependent protein kinase-DNA ligase 4 complex IDA15194694


    XRCC4 for ontologies           About GeneDecksing



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

    XRCC4 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR009089 XRCC4_N
     IPR014751 XRCC4_C
     IPR010585 DNA_ds_break_repair_XRCC4

    Graphical View of Domain Structure for InterPro Entry Q13426

    ProtoNet protein and cluster: Q13426

    UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426
    Similarity: Belongs to the XRCC4 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426
    Function: Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J
    recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation
    step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on
    the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends

         Genatlas biochemistry entry for XRCC4:
    repair X-ray defect,complementing defect in CHO cells,4 with CAG repeat,involved in DNA double-strand break repair by
    end joining (non homologous recombination) and V(D)J recombination. Also involved in neurogenesis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677NOT DNA binding IDA9259561
    GO:0005515protein binding IPI16439205
    GO:0008022protein C-terminus binding IPI9259651
    GO:0016874NOT ligase activity IDA9242410


    XRCC4 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for XRCC4:
     Decreased number of cells in m  Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for XRCC4: Xrcc4tm1Fwa Xrcc4tm2.1Fwa
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Xrcc4):
     cellular  craniofacial  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  nervous system 
     reproductive system  skeleton  tumorigenesis 

    XRCC4 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Non-homologous end-joining
    Non-homologous end-joining1.00
    DNA damage_NHEJ mechanisms of DSBs repair0.36
    Non-homologous end joining0.43
    DNA damage NHEJ mechanisms of DSBs repair0.36
    2Plus-strand DNA synthesis
    Integration of provirus0.12
    2-LTR circle formation0.00
    Early Phase of HIV Life Cycle0.09
    3HIV Infection
    HIV Infection1.00
    4Disease
    Disease1.00
    5Late Phase of HIV Life Cycle
    HIV Life Cycle0.90

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for XRCC4
        DNA damage NHEJ mechanisms of DSBs repair

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for XRCC4
        DNA Repair Mechanisms

    1 GeneGo (Thomson Reuters) Pathway for XRCC4
        DNA damage NHEJ mechanisms of DSBs repair

    1 BioSystems Pathway for XRCC4 
        Non-homologous end joining

    5/9        Reactome Pathways for XRCC4 (see all 9)
        DNA Repair
    Nonhomologous End-joining (NHEJ)
    Early Phase of HIV Life Cycle
    Disease
    HIV Life Cycle


    1         Kegg Pathway  (Kegg details for XRCC4):
        Non-homologous end-joining


    XRCC4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XRCC4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for XRCC4 (Q134261, 2, 3 ENSP000003420114) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PNKPQ96T602, 3, ENSP000003235114MINT-51171 MINT-8200112 MINT-51174 MINT-8200097 MINT-51172 MINT-8200126 MINT-51173 MINT-51175 I2D: score=4 STRING: ENSP00000323511
    NHEJ1Q9H9Q41, 2, 3, ENSP000003493134EBI-717592,EBI-847807 MINT-6175948 MINT-8094510 MINT-6175964 I2D: score=3 STRING: ENSP00000349313
    APTXQ7Z2E32, 3, ENSP000004008064MINT-51155 MINT-2864227 MINT-51156 I2D: score=3 STRING: ENSP00000400806
    XRCC5P130102, 3MINT-6175948 MINT-8094510 MINT-6175964 I2D: score=1 
    BIN1O004991, 3, ENSP000003167794EBI-717592,EBI-1965383 I2D: score=2 STRING: ENSP00000316779
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0002328pro-B cell differentiation IEA--
    GO:0006266DNA ligation ----
    GO:0006281DNA repair TAS--
    GO:0006302double-strand break repair TAS--


    XRCC4 for ontologies           About GeneDecksing



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

    XRCC4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for XRCC4

    1 DrugBank Compound for XRCC4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    S-(Dimethylarsenic)Cysteine-- --target--17139284 17016423

    3 Novoseek chemical compound relationships for XRCC4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polynucleotide 56.3 3 18644470 (1), 17353262 (1), 15380105 (1)
    wortmannin 35.7 4 12140331 (4)
    alanine 13.7 1 14599745 (1)

    1 PharmGKB related drug/compound annotation for XRCC4 gene
    Drug/compound PharmGKB Annotation
    docetaxelCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about XRCC4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for XRCC4 gene (3 alternative transcripts): 
    NM_003401.3  NM_022406.2  NM_022550.2  

    Unigene Cluster for XRCC4:

    X-ray repair complementing defective repair in Chinese hamster cells 4
    Hs.567359  [show with all ESTs]
    Unigene Representative Sequence: NM_022550
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338635 ENST00000542685(uc003kia.1) ENST00000396027 ENST00000511817(uc003kig.3)
    ENST00000509268 ENST00000282268(uc003kib.3 uc003kic.3 uc003kid.3 uc003kie.3)


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    Additional cDNA sequence: 

    AB017445.1 AK290739.1 BC005259.1 BC010655.1 BC016314.1 BT007216.1 U40622.1 

    16 DOTS entries:

    DT.95269018  DT.40220026  DT.312131  DT.92436833  DT.120875805  DT.100819225  DT.120875672  DT.100819221 
    DT.101986016  DT.100819224  DT.100819223  DT.120875671  DT.40109549  DT.92436831  DT.92436832  DT.95269017 

    24/128 AceView cDNA sequences (see all 128):

    BX281210 AA314379 AI795996 CA394395 CB144620 BU171074 AL543920 AI270686 
    BM471375 AI289105 AL551668 CR602998 BX362079 AL558342 CR617390 CR599717 
    BE781259 BC005259 BM564730 BX279574 BG204714 BI760531 BQ226357 R39148 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:                                -                       -                     
    SP2:                                -                       -                     
    SP3:                                                                              
    SP4:              -                                                               


    ECgene alternative splicing isoforms for XRCC4

    (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

    XRCC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTATAATTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See XRCC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XRCC4

    SOURCE GeneReport for Unigene cluster: Hs.567359

    UniProtKB/Swiss-Prot: XRCC4_HUMAN, Q13426
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including XRCC4: 
              Cancer PathwayFinder in human mouse rat
              p53 Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

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    In Situ
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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 chordates.

    Orthologs for XRCC4 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xrcc41 , 5 X-ray repair complementing defective repair in Chinese more1, 5 81.08(n)1
    76.07(a)1
      13 (45.50 cM)5
    1081381  NM_028012.41  NP_082288.11 
     897740275 
    chicken
    (Gallus gallus)
    Aves XRCC41 X-ray repair complementing defective repair in Chinese more 65.35(n)
    53.6(a)
      427325  XM_424905.3  XP_424905.3 
    lizard
    (Anolis carolinensis)
    Reptilia XRCC46
    --
    55(a)
    1 ↔ 1
    2(18412520-18557775)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.321452 Xenopus laevis transcribed sequence with weak similarity more 74.05(n)    CD302243.1 
    zebrafish
    (Danio rerio)
    Actinopterygii xrcc41 X-ray repair complementing defective repair in Chinese more 50.05(n)
    40.92(a)
      393759  NM_200786.1  NP_957080.1 


    ENSEMBL Gene Tree for XRCC4 (if available)
    TreeFam Gene Tree for XRCC4 (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, UniProtKB, 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

    10/4957 NCBI SNPs in XRCC4 are shown (see all 4957    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37630631,2
    C,F,--82371453(+) CAGCTG/ACTCGG 4 -- us2k1 int14Minor allele frequency- A:0.38NA WA 8
    rs1444087481,2
    --82371525(+) TGCCAC/GTGCAC 4 -- int1 us2k10--------
    rs68880361,2
    C,A,--82371579(+) aaaaTC/TATTAA 4 -- us2k1 int1 tfbs30--------
    rs1487676611,2
    --82371611(+) TAAGTA/CATTAC 4 -- int1 us2k10--------
    rs64525061,2
    C,F,A,H,--82371663(+) TCAAAG/CATACT 4 -- us2k1 int112Minor allele frequency- C:0.43NA WA CSA EA 512
    rs77276911,2
    C,F,H,--82371695(+) AGCTGC/TTAAGT 4 -- us2k1 int115Minor allele frequency- T:0.18NS EA NA WA CSA 930
    rs68693661,2
    C,F,H,--82371746(+) GTACTT/GTTGAC 4 -- int1 us2k18Minor allele frequency- G:0.12NS EA WA NA 780
    rs1828744251,2
    --82371776(+) AAAAAA/GCCACC 4 -- us2k1 int10--------
    rs1880419111,2
    --82371809(+) CCTATA/GTCTAA 4 -- us2k1 int10--------
    rs169001461,2
    C,F,H,--82371865(+) CATCCT/CTAGTT 4 -- us2k1 int19Minor allele frequency- C:0.04NA NS EA WA 682

    HapMap Linkage Disequilibrium report for XRCC4 (82373317 - 82623317 bp, first 250kb of XRCC4)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for XRCC4
         2 CNVs: 53729 51746
         3 Indels: 43040 40777 62396
    Human Gene Mutation Database (HGMD): XRCC4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing XRCC4
    DNA2.0 Custom Variant and Variant Library Synthesis for XRCC4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    XRCC4 for disorders           About GeneDecksing

    OMIM gene information: 194363    OMIM disorders: --

    20/66 diseases for XRCC4 (see all 66):    About MalaCards
    dna ligase iv deficiency    xeroderma pigmentosum, group d    oculomotor apraxia    diffuse large b-cell lymphoma
    xeroderma pigmentosum    b-cell lymphomas    acoustic neuroma    artemis deficiency
    apraxia    severe combined immunodeficiency    combined immunodeficiency    neuroma
    systemic lupus erythematosus    microtia    lupus erythematosus    breast cancer susceptibility
    synovial sarcoma    acute lymphoblastic leukemia    bladder cancer susceptibility    chronic lymphocytic leukemia

    5 Novoseek disease relationships for XRCC4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune response 23.4 1 12218164 (1)
    leukemia 12 3 20332465 (3)
    breast cancer 0 4 12750264 (2), 9259561 (1), 16485136 (1)
    tumors 0 1 16227403 (1)
    cancer 0 1 12698192 (1)

    Genetic Association Database (GAD): XRCC4
    Human Genome Epidemiology (HuGE) Navigator: XRCC4 (60 documents)

    Export disorders for XRCC4 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 XRCC4 gene, integrated from 9 sources (see all 224):
    (articles sorted by number of sources associating them with XRCC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Monoubiquitination of the nonhomologous end joining protein XRCC4. (PubMed id 16412978)1, 2, 9 Foster R.E.... Frank K.M. (2006)
    2. Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. (PubMed id 9259561)1, 2, 9 Critchlow S.E.... Jackson S.P. (1997)
    3. Tetramerization and DNA ligase IV interaction of the DNA double- strand break repair protein XRCC4 are mutually exclusive. (PubMed id 14607114)1, 2, 9 Modesti M.... Kanaar R. (2003)
    4. Identification of DNA-PKcs phosphorylation sites in XRCC4 and effects of mutations at these sites on DNA end joining in a cell-free system. (PubMed id 15177042)1, 2, 9 Lee K.J.... Dynan W.S. (2004)
    5. The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. (PubMed id 15380105)1, 2, 9 Clements P.M....Caldecott K.W. (2004)
    6. Defining interactions between DNA-PK and ligase IV/XRCC4. (PubMed id 12509254)1, 2, 9 Hsu H.-L.... Chen D.J. (2002)
    7. Crystal structure of an Xrcc4-DNA ligase IV complex. (PubMed id 11702069)1, 2, 9 Sibanda B.L.... Pellegrini L. (2001)
    8. The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. (PubMed id 8548796)1, 2, 9 Li Z.... Alt F.W. (1995)
    9. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. (PubMed id 16439205)1, 2, 9 Ahnesorg P....Jackson S.P. (2006)
    10. Regional localization of the XRCC4 human radiation repair gene. (PubMed id 7665175)1, 3, 9 Otevrel T. and Stamato T.D. (1995)

    (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: 7518 HGNC: 12831 AceView: XRCC4 Ensembl:ENSG00000152422 euGenes: HUgn7518
    ECgene: XRCC4 Kegg: 7518 H-InvDB: XRCC4

    (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 XRCC4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XRCC4 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/xrcc4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for XRCC4 gene:
    Search GeneIP for patents involving XRCC4

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



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