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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:89997033-90237727 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 45.50 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5694 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333799
 protein coding gene Chr13:89922146-90237727 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020801
 protein coding gene Chr13:90958655-91296706 (-)
A/J MGP_AJ_G0020755
 protein coding gene Chr13:87581391-87903406 (-)
AKR/J MGP_AKRJ_G0020728
 protein coding gene Chr13:90258720-90580563 (-)
BALB/cJ MGP_BALBcJ_G0020751
 protein coding gene Chr13:88248593-88556713 (-)
C3H/HeJ MGP_C3HHeJ_G0020545
 protein coding gene Chr13:90000523-90312134 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021188
 protein coding gene Chr13:93824938-94155871 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018756
 protein coding gene Chr13:83646062-83944758 (-)
CAST/EiJ MGP_CASTEiJ_G0020063
 protein coding gene Chr13:89189961-89508738 (-)
CBA/J MGP_CBAJ_G0020504
 protein coding gene Chr13:97469481-97825747 (-)
DBA/2J MGP_DBA2J_G0020629
 protein coding gene Chr13:87355739-87666478 (-)
FVB/NJ MGP_FVBNJ_G0020609
 protein coding gene Chr13:86198843-86504317 (-)
LP/J MGP_LPJ_G0020702
 protein coding gene Chr13:91101360-91424201 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020638
 protein coding gene Chr13:97854325-98275637 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021228
 protein coding gene Chr13:89661539-89989402 (-)
PWK/PhJ MGP_PWKPhJ_G0019816
 protein coding gene Chr13:86086469-86396080 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019639
 protein coding gene Chr13:85899548-86233270 (-)
WSB/EiJ MGP_WSBEiJ_G0020121
 protein coding gene Chr13:90142625-90474445 (-)



Homology
more
  • Human Ortholog
    XRCC4, X-ray repair cross complementing 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    XRCC4, X-ray repair cross complementing 4
  • Synonyms
    hXRCC4, SSMED
  • Links
    NCBI Gene ID: 7518
    neXtProt AC: NX_Q13426
    UniProt: Q13426

  • Chr Location
    5q14.2; chr5:83077498-83374473 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human XRCC4 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 2 alleles in 3 genetic backgrounds
    19 phenotypes from multigenic genotypes
    47 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
less
  • All GO Annotations
    56
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    712
  • Tissues
    6
  • cDNA Data
    21
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 108138 NCBI Gene Model | MGI Sequence Detail 240695 C57BL/6J ±  kb
    transcript NM_028012 RefSeq | MGI Sequence Detail 1557 C57BL/6  
    polypeptide Q924T3 UniProt | EBI | MGI Sequence Detail 326 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 21
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1919195, MGI:2145428, MGI:2145445
    References
    more
    • Summaries
      All 87
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 12
      Phenotypes 47
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:332737 Vincendeau E, et al., SHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination. Nat Commun. 2022 Jun 28;13(1):3707
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory