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Prkdc Gene Detail
Summary
  • Symbol
    Prkdc
  • Name
    protein kinase, DNA activated, catalytic polypeptide
  • Synonyms
    DNAPDcs, DNA-PK, DNA-PKcs, DOXNPH, dxnph, slip, XRCC7
  • Feature Type
    protein coding gene
  • IDs
    MGI:104779
    NCBI Gene: 19090
  • Gene Overview
    MyGene.info: PRKDC
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:15637866-15842235 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 10.09 cM, cytoband B1
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    570 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104779
protein coding gene Chr16:15637443-15842252 (.)
129S1/SvImJ MGP_129S1SvImJ_G0022552
protein coding gene Chr16:12714769-12932615 (+)
A/J MGP_AJ_G0022513
protein coding gene Chr16:12034973-12243407 (+)
AKR/J MGP_AKRJ_G0022490
protein coding gene Chr16:12527877-12752818 (+)
BALB/cJ MGP_BALBcJ_G0022518
protein coding gene Chr16:12191057-12403880 (+)
C3H/HeJ MGP_C3HHeJ_G0022285
protein coding gene Chr16:12640642-12845454 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022967
protein coding gene Chr16:12874109-13086780 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020487
protein coding gene Chr16:12173251-12371730 (+)
CAST/EiJ MGP_CASTEiJ_G0021812
protein coding gene Chr16:12594993-12797935 (+)
CBA/J MGP_CBAJ_G0022254
protein coding gene Chr16:13458181-13674892 (+)
DBA/2J MGP_DBA2J_G0022385
protein coding gene Chr16:11999566-12195134 (+)
FVB/NJ MGP_FVBNJ_G0022361
protein coding gene Chr16:12041303-12233958 (+)
LP/J MGP_LPJ_G0022453
protein coding gene Chr16:12501939-12717630 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022383
protein coding gene Chr16:13111704-13365654 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022980
protein coding gene Chr16:12475487-12696373 (+)
PWK/PhJ MGP_PWKPhJ_G0021554
protein coding gene Chr16:12249361-12449916 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021382
protein coding gene Chr16:12479733-12681298 (+)
WSB/EiJ MGP_WSBEiJ_G0021860
protein coding gene Chr16:12477892-12690339 (+)



Homology
more
  • Human Ortholog
    PRKDC, protein kinase, DNA-activated, catalytic subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PRKDC, protein kinase, DNA-activated, catalytic subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DNAPK, DNAPKc, DNA-PKC, DNA-PKcs, DNPK1, HYRC, HYRC1, IMD26, p350, XRCC7
  • Links
    NCBI Gene ID: 5591
    neXtProt AC: NX_P78527
    UniProt: P78527

  • Chr Location
    8q11.21; chr8:47773108-47960183 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 5037
    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: PRKDC
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Prkdc mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    149 phenotypes from 22 alleles in 34 genetic backgrounds
    129 phenotypes from multigenic genotypes
    1 images
    790 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022672 Ensembl Gene Model | MGI Sequence Detail 204370 C57BL/6J ±  kb
    transcript ENSMUST00000023352 Ensembl | MGI Sequence Detail 12647 Not Applicable  
    polypeptide ENSMUSP00000023352 Ensembl | MGI Sequence Detail 4128 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 3
      cDNA 26

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14312, MGD-MRK-28071, MGI:2146417, MGI:2146554, MGI:3574416
    References
    more
    • Summaries
      All 978
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 21
      Phenotypes 790
    • Earliest
      J:5237 Graff RJ, Polymorphism of histocompatibility genes in the mouse. Transplant Proc. 1970 Mar;2(1):15-23
    • Latest
      J:266868 Sasanuma H, et al., BRCA1 ensures genome integrity by eliminating estrogen-induced pathological topoisomerase II-DNA complexes. Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10642-E10651

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory