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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
Location & Maps
more
  • Sequence Map
    Chr16:15637866-15842235 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      204370 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 10.09 cM, cytoband B1
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    PRKDC, protein kinase, DNA-activated, catalytic polypeptide
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PRKDC, protein kinase, DNA-activated, catalytic polypeptide
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DNAPK, DNA-PKcs, DNPK1, HYRC, HYRC1, IMD26, p350, XRCC7
  • Links
    NCBI Gene ID: 5591
    neXtProt AC: NX_P78527

  • Chr Location
    8q11; chr8:47773108-47960183 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 5037
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PRKDC
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Prkdc mouse models; 1 with human PRKDC associations

Human Disease Mouse Models
       Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive   OMIM: 601457 View 1 model
       Immunodeficiency 26 with or without Neurologic Abnormalities; IMD26   OMIM: 615966
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    133 phenotypes from 14 alleles in 25 genetic backgrounds
    129 phenotypes from multigenic genotypes
    1 images
    692 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.
  • All Mutations and Alleles
    32
  • Chemically induced (ENU)
    6
  • Gene trapped
    17
  • QTL
    1
  • Spontaneous
    2
  • Targeted
    5
  • Transgenic
    1
  • Incidental Mutations
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
receptor
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000043440 VEGA Gene Model | MGI Sequence Detail 204370 C57BL/6J ±  kb
transcript OTTMUST00000113952 VEGA | MGI Sequence Detail 12647 Not Applicable  
polypeptide OTTMUSP00000063630 VEGA | MGI Sequence Detail 4128 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    570 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 28
    Genomic 3
    cDNA 25

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-14312, MGD-MRK-28071, MGI:2146417, MGI:2146554, MGI:3574416
References
more
  • Summaries
    All 864
    Developmental Gene Expression 3
    Diseases 6
    Gene Ontology 19
    Phenotypes 692
  • Earliest
    J:5237 Graff RJ, Polymorphism of histocompatibility genes in the mouse. Transplant Proc. 1970 Mar;2(1):15-23
  • Latest
    J:232638 Zhang Q, et al., Serum-resistant CpG-STAT3 decoy for targeting survival and immune checkpoint signaling in acute myeloid leukemia. Blood. 2016 Mar 31;127(13):1687-700

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory