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Aliases for XRCC4 Gene

Aliases for XRCC4 Gene

  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 4 2 3 5
  • X-Ray Repair Cross-Complementing Protein 4 3 4
  • Repair In Chinese Hamster 2
  • DNA Repair Protein XRCC4 2
  • Complementing Defective 2
  • X-Ray Repair 2
  • SSMED 3

External Ids for XRCC4 Gene

Previous GeneCards Identifiers for XRCC4 Gene

  • GC05P081191
  • GC05P082600
  • GC05P082412
  • GC05P082457
  • GC05P082409
  • GC05P077581

Summaries for XRCC4 Gene

Entrez Gene Summary for XRCC4 Gene

  • 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 breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for XRCC4 Gene

XRCC4 (X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 4) is a Protein Coding gene. Diseases associated with XRCC4 include short stature, microcephaly, and endocrine dysfunction and growth hormone deficiency, isolated, type ia. Among its related pathways are Transport to the Golgi and subsequent modification and SUMOylation. GO annotations related to this gene include ligase activity and protein C-terminus binding.

UniProtKB/Swiss-Prot for XRCC4 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XRCC4 Gene

Genomics for XRCC4 Gene

Regulatory Elements for XRCC4 Gene

Promoters for XRCC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around XRCC4 on UCSC Golden Path with GeneCards custom track

Genomic Location for XRCC4 Gene

Chromosome:
5
Start:
83,077,409 bp from pter
End:
83,353,787 bp from pter
Size:
276,379 bases
Orientation:
Plus strand

Genomic View for XRCC4 Gene

Genes around XRCC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XRCC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XRCC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XRCC4 Gene

Proteins for XRCC4 Gene

  • Protein details for XRCC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13426-XRCC4_HUMAN
    Recommended name:
    DNA repair protein XRCC4
    Protein Accession:
    Q13426
    Secondary Accessions:
    • A8K3X4
    • Q9BS72
    • Q9UP94

    Protein attributes for XRCC4 Gene

    Size:
    336 amino acids
    Molecular mass:
    38287 Da
    Quaternary structure:
    • Homodimer and homotetramer in solution. The homodimer associates with LIG4. The LIG4-XRCC4 complex associates in a DNA-dependent manner with the DNA-PK complex composed of PRKDC, XRCC6/Ku70 and XRCC5/Ku86 to form the core non-homologous end joining (NHEJ) complex. Additional components of the NHEJ complex include NHEJ1/XLF and C9orf142/PAXX. Interacts directly with PRKDC but not with the XRCC6/Ku70 and XRCC5/Ku86 dimer. Interacts with APTX and APLF.

    Three dimensional structures from OCA and Proteopedia for XRCC4 Gene

    Alternative splice isoforms for XRCC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XRCC4 Gene

Proteomics data for XRCC4 Gene at MOPED

Post-translational modifications for XRCC4 Gene

  • Monoubiquitinated.
  • Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA. Phosphorylation by CK2 promotes interaction with APTX.
  • Sumoylation at Lys-210 is required for nuclear localization and recombination efficiency. Has no effect on ubiquitination.
  • Ubiquitination at Lys 197
  • Modification sites at PhosphoSitePlus

Other Protein References for XRCC4 Gene

No data available for DME Specific Peptides for XRCC4 Gene

Domains & Families for XRCC4 Gene

Protein Domains for XRCC4 Gene

Suggested Antigen Peptide Sequences for XRCC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13426

UniProtKB/Swiss-Prot:

XRCC4_HUMAN :
  • Belongs to the XRCC4 family.
Family:
  • Belongs to the XRCC4 family.
genes like me logo Genes that share domains with XRCC4: view

No data available for Gene Families for XRCC4 Gene

Function for XRCC4 Gene

Molecular function for XRCC4 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with XRCC4: view

Animal Models for XRCC4 Gene

MGI Knock Outs for XRCC4:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for XRCC4 Gene

Localization for XRCC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XRCC4 Gene COMPARTMENTS Subcellular localization image for XRCC4 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for XRCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070419 nonhomologous end joining complex IDA 20383123
genes like me logo Genes that share ontologies with XRCC4: view

Pathways & Interactions for XRCC4 Gene

genes like me logo Genes that share pathways with XRCC4: view

Pathways by source for XRCC4 Gene

Gene Ontology (GO) - Biological Process for XRCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006310 DNA recombination IEA --
GO:0043687 post-translational protein modification TAS --
GO:0071285 cellular response to lithium ion IEA --
genes like me logo Genes that share ontologies with XRCC4: view

No data available for SIGNOR curated interactions for XRCC4 Gene

Drugs & Compounds for XRCC4 Gene

(4) Drugs for XRCC4 Gene - From: DrugBank, Novoseek, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1844
S-(Dimethylarsenic)Cysteine Experimental Pharma Target 0

(1) Additional Compounds for XRCC4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XRCC4: view

Transcripts for XRCC4 Gene

Unigene Clusters for XRCC4 Gene

X-ray repair complementing defective repair in Chinese hamster cells 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XRCC4 Gene

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

Relevant External Links for XRCC4 Gene

GeneLoc Exon Structure for
XRCC4
ECgene alternative splicing isoforms for
XRCC4

Expression for XRCC4 Gene

mRNA expression in normal human tissues for XRCC4 Gene

Protein differential expression in normal tissues from HIPED for XRCC4 Gene

This gene is overexpressed in Plasma (19.9), Blymphocyte (10.4), Heart (8.7), and Urine (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for XRCC4 Gene



SOURCE GeneReport for Unigene cluster for XRCC4 Gene Hs.567359

mRNA Expression by UniProt/SwissProt for XRCC4 Gene

Q13426-XRCC4_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with XRCC4: view

Protein tissue co-expression partners for XRCC4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for XRCC4 Gene

Orthologs for XRCC4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for XRCC4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia XRCC4 35
  • 87.69 (n)
  • 78.98 (a)
XRCC4 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XRCC4 35
  • 87.45 (n)
  • 79.52 (a)
XRCC4 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xrcc4 35
  • 81.08 (n)
  • 76.07 (a)
Xrcc4 16
Xrcc4 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia XRCC4 35
  • 99.4 (n)
  • 98.8 (a)
XRCC4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xrcc4 35
  • 78.22 (n)
  • 72.76 (a)
oppossum
(Monodelphis domestica)
Mammalia XRCC4 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XRCC4 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves XRCC4 35
  • 66.16 (n)
  • 55.62 (a)
XRCC4 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XRCC4 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xrcc4 35
  • 59.23 (n)
  • 49.24 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32145 35
zebrafish
(Danio rerio)
Actinopterygii xrcc4 35
  • 49.54 (n)
  • 40.92 (a)
xrcc4 36
  • 35 (a)
OneToOne
Species with no ortholog for XRCC4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XRCC4 Gene

ENSEMBL:
Gene Tree for XRCC4 (if available)
TreeFam:
Gene Tree for XRCC4 (if available)

Paralogs for XRCC4 Gene

No data available for Paralogs for XRCC4 Gene

Variants for XRCC4 Gene

Sequence variations from dbSNP and Humsavar for XRCC4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs2974446 - 83,204,895(-) CAGTT(C/G/T)GGTTT reference, missense
rs3734091 - 83,204,915(-) TGAAG(A/C)CAACC reference, missense
rs28383138 - 83,104,954(+) TGTTT(C/G)TGAAC reference, missense
rs28383151 - 83,111,054(+) AAGAA(A/G)CTGAT reference, missense
rs28360135 - 83,195,855(+) CACCA(C/T)TGCAG reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for XRCC4 Gene

Variant ID Type Subtype PubMed ID
nsv882242 CNV Loss 21882294
esv270814 CNV Insertion 20981092
esv2730397 CNV Deletion 23290073
esv2730398 CNV Deletion 23290073
dgv6191n71 CNV Loss 21882294
nsv830365 CNV Loss 17160897
dgv1028e199 CNV Deletion 23128226
esv2312144 CNV Deletion 18987734
nsv471019 CNV Loss 18288195
dgv6192n71 CNV Loss 21882294
esv3557 CNV Deletion 18987735
esv2730399 CNV Deletion 23290073
esv6941 CNV Loss 19470904
esv2659602 CNV Deletion 23128226
nsv519738 CNV Loss 19592680
esv268758 CNV Insertion 20981092
dgv709n27 CNV Loss 19166990
esv2730400 CNV Deletion 23290073
nsv830366 CNV Gain 17160897

Variation tolerance for XRCC4 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.27; 88.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XRCC4 Gene

HapMap Linkage Disequilibrium report
XRCC4
Human Gene Mutation Database (HGMD)
XRCC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XRCC4 Gene

Disorders for XRCC4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for XRCC4 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short stature, microcephaly, and endocrine dysfunction
  • ssmed
growth hormone deficiency, isolated, type ia
  • dwarfism
dna ligase iv deficiency
  • lig4 syndrome
myoma
  • benign neoplasm of the muscle
xeroderma pigmentosum, group d
  • xeroderma pigmentosum, complementation group d
- elite association - COSMIC cancer census association via MalaCards
Search XRCC4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for XRCC4

Genetic Association Database (GAD)
XRCC4
Human Genome Epidemiology (HuGE) Navigator
XRCC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XRCC4
genes like me logo Genes that share disorders with XRCC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for XRCC4 Gene

Publications for XRCC4 Gene

  1. Monoubiquitination of the nonhomologous end joining protein XRCC4. (PMID: 16412978) Foster R.E. … Frank K.M. (Biochem. Biophys. Res. Commun. 2006) 3 4 23 67
  2. Regional localization of the XRCC4 human radiation repair gene. (PMID: 7665175) Otevrel T. … Stamato T.D. (Genomics 1995) 2 3 23
  3. Significant association of XRCC4 single nucleotide polymorphisms with childhood leukemia in Taiwan. (PMID: 20332465) Wu K.H. … Bau D.T. (Anticancer Res. 2010) 3 23
  4. Structural and functional interaction between the human DNA repair proteins DNA ligase IV and XRCC4. (PMID: 19332554) Wu P.Y. … Junop M.S. (Mol. Cell. Biol. 2009) 3 23
  5. Lung cancer susceptibility and genetic polymorphism of DNA repair gene XRCC4 in Taiwan. (PMID: 19729825) Hsu N.Y. … Bau D.T. (Cancer Biomark 2009) 3 23

Products for XRCC4 Gene

Sources for XRCC4 Gene

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