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Xrcc4 Gene Detail
Summary
  • Symbol
    Xrcc4
  • Name
    X-ray repair complementing defective repair in Chinese hamster cells 4
  • Synonyms
    2310057B22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333799
    NCBI Gene: 108138
  • Gene Overview
    MyGene.info: XRCC4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr13:89774027-90089608 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      315582 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 45.50 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    XRCC4, X-ray repair cross complementing 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    XRCC4, X-ray repair cross complementing 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SSMED
  • Links
    NCBI Gene ID: 7518
    neXtProt AC: NX_Q13426
    UniProt: Q13426

  • Chr Location
    5q14.2; chr5:83077409-83370333 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 2555
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: XRCC4
  • Gene Tree
Human Diseases
less
  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 3 genetic backgrounds
    19 phenotypes from multigenic genotypes
    37 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mutants have massive neuronal apoptosis, growth retardation, hypoplastic thymus and die by embryonic day 17.5. Lethality is rescued by Trp53 deficiency, but double knockout mice die from pro-B-cell lymphomas with Myc-Igh translocations.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000035049 VEGA Gene Model | MGI Sequence Detail 315582 C57BL/6J ±  kb
    transcript OTTMUST00000089147 VEGA | MGI Sequence Detail 1540 Not Applicable  
    polypeptide OTTMUSP00000048674 VEGA | MGI Sequence Detail 326 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      2056 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR010585 DNA repair protein XRCC4
      IPR009089 XRCC4, N-terminal domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 20
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1919195, MGI:2145428, MGI:2145445
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 10
      Phenotypes 37
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:249066 Gompers AL, et al., Germline Chd8 haploinsufficiency alters brain development in mouse. Nat Neurosci. 2017 Aug;20(8):1062-1073

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory