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Aliases for PRKDC Gene

Aliases for PRKDC Gene

  • Protein Kinase, DNA-Activated, Catalytic Polypeptide 2 3 5
  • DNA-PK Catalytic Subunit 3 4
  • DNA-PKcs 3 4
  • HYRC1 3 4
  • DNPK1 3 4
  • HYRC 3 4
  • P460 3 4
  • Hyper-Radiosensitivity Of Murine Scid Mutation, Complementing 1 3
  • DNA-Dependent Protein Kinase Catalytic Subunit 3
  • DNA-Dependent Protein Kinase 2
  • EC 2.7.11.1 4
  • DNAPK 3
  • IMD26 3
  • XRCC7 3
  • P350 3

External Ids for PRKDC Gene

Previous HGNC Symbols for PRKDC Gene

  • HYRC
  • HYRC1

Previous GeneCards Identifiers for PRKDC Gene

  • GC08P047830
  • GC08M048689
  • GC08M048408
  • GC08M048735
  • GC08M048848
  • GC08M048685

Summaries for PRKDC Gene

Entrez Gene Summary for PRKDC Gene

  • This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

GeneCards Summary for PRKDC Gene

PRKDC (Protein Kinase, DNA-Activated, Catalytic Polypeptide) is a Protein Coding gene. Diseases associated with PRKDC include Immunodeficiency 26 With Or Without Neurologic Abnormalities and Artemis Deficiency. Among its related pathways are Akt Signaling and TNFR1 Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is ATR.

UniProtKB/Swiss-Prot for PRKDC Gene

  • Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates Ser-139 of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism. Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D. Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 Ser-588 and increasing CRY1 protein stability, most likely through an indirect mechanism. Interacts with CRY1 and CRY2; negatively regulates CRY1 phosphorylation. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.

Tocris Summary for PRKDC Gene

  • DNA-dependent protein kinase (DNA-PK) is a nuclear protein serine/threonine kinase that is a molecular sensor of DNA damage. DNA-PK is involved in the ligation step of the non-homologous end joining (NHEJ) pathway of DNA double strand break (DSB) repair.

Gene Wiki entry for PRKDC Gene

Additional gene information for PRKDC Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKDC Gene

Genomics for PRKDC Gene

GeneHancer (GH) Regulatory Elements for PRKDC Gene

Promoters and enhancers for PRKDC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J047959 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 711.5 -0.5 -453 3.5 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 PRKDC MCM4 SPIDR SNAI2 RPL10AP2 ENSG00000253688 LOC100420054 RPL29P19 PIR48725 GC08M047394
GH08J047958 Enhancer 0.5 ENCODE 650.7 +1.9 1925 0.4 POLR2A PRDM10 RUNX3 PRDM1 MCM4 PRKDC RNU6-519P LOC105375818 GC08M047394
GH08J047259 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 40.3 +699.3 699283 1.9 HDGF ARID4B SIN3A ZNF2 ZNF48 ETS1 POLR2B ZNF766 ATF7 RUNX3 SPIDR GC08M047258 PIR41334 PRKDC LOC100420054 MCM4 PIR60563
GH08J048007 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 27.6 -48.7 -48676 2.5 HDGF CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 GC08M047394 UBE2V2 SPIDR PRKDC SNAI2 RPL29P19 ENSG00000255366 PIR60583
GH08J048626 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 26.6 -668.8 -668809 4.6 PKNOX1 NFIB ZFP64 NEUROD1 RAD21 GTF3C2 POLR3A RCOR1 FOS ZBTB11 PRKDC SNAI2 RPL29P19 EFCAB1 GC08P048636 LOC105375823 LOC101929268
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRKDC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRKDC gene promoter:
  • p53
  • Nkx3-1 v1
  • Nkx3-1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • STAT1alpha
  • STAT1

Genomic Locations for PRKDC Gene

Genomic Locations for PRKDC Gene
chr8:47,773,108-47,960,183
(GRCh38/hg38)
Size:
187,076 bases
Orientation:
Minus strand
chr8:48,685,669-48,872,743
(GRCh37/hg19)
Size:
187,075 bases
Orientation:
Minus strand

Genomic View for PRKDC Gene

Genes around PRKDC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PRKDC Gene

Proteins for PRKDC Gene

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

    Protein Symbol:
    P78527-PRKDC_HUMAN
    Recommended name:
    DNA-dependent protein kinase catalytic subunit
    Protein Accession:
    P78527
    Secondary Accessions:
    • P78528
    • Q13327
    • Q13337
    • Q14175
    • Q59H99
    • Q7Z611
    • Q96SE6
    • Q9UME3

    Protein attributes for PRKDC Gene

    Size:
    4128 amino acids
    Molecular mass:
    469089 Da
    Quaternary structure:
    • DNA-PK is a heterotrimer of PRKDC and the Ku p70/YRCC6-p86/XRCC5 dimer. Formation of this complex may be promoted by interaction with ILF3. Associates with the DNA-bound Ku heterodimer, but it can also bind to and be activated by free DNA. The DNA-PK heterotrimer associates with the LIG4-XRCC4 complex to form the core of the non-homologous end joining (NHEJ) complex. Additional components of the NHEJ complex include NHEJ1/XLF and PAXX. Interacts with DNA-PKcs-interacting protein (KIP) with the region upstream the kinase domain. PRKDC alone also interacts with and phosphorylates DCLRE1C, thereby activating the latent endonuclease activity of this protein. Interacts with C1D. Interacts with TTI1 and TELO2. Interacts with CIB1. Interacts with SETX (PubMed:23149945). Interacts with NR4A3; the DNA-dependent protein kinase complex DNA-PK phosphorylates and activates NR4A3 and prevents NR4A3 ubiquitination and degradation (PubMed:25852083). Interacts with BRAT1. Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA.

    Three dimensional structures from OCA and Proteopedia for PRKDC Gene

    Alternative splice isoforms for PRKDC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKDC Gene

Post-translational modifications for PRKDC Gene

  • Autophosphorylated on Ser-2056, Thr-2609, Thr-2638 and Thr-2647. Ser-2056 and Thr-2609 are DNA damage-inducible phosphorylation sites (inducible with ionizing radiation, IR) dephosphorylated by PPP5C. Autophosphorylation induces a conformational change that leads to remodeling of the DNA-PK complex, requisite for efficient end processing and DNA repair.
  • S-nitrosylated by GAPDH.
  • Polyubiquitinated by RNF144A, leading to proteasomal degradation.
  • Ubiquitination at posLast=41054105, Lys4070, posLast=40504050, Lys4036, Lys4023, Lys4014, Lys4007, posLast=38843884, Lys3860, posLast=38493849, Lys3845, Lys3840, Lys3825, posLast=37533753, Lys3710, posLast=36913691, posLast=36693669, Lys3655, posLast=36313631, Lys3621, Lys3455, posLast=34263426, posLast=33723372, posLast=33553355, posLast=33183318, posLast=33023302, posLast=32603260, Lys3257, posLast=32483248, Lys3196, posLast=31923192, Lys3172, posLast=31583158, posLast=31473147, Lys3128, Lys3067, Lys2950, Lys2928, posLast=29082908, posLast=28352835, posLast=28062806, posLast=27862786, posLast=27642764, Lys2738, Lys2717, posLast=27152715, posLast=26942694, Lys2683, Lys2441, posLast=24332433, Lys2418, Lys2369, posLast=23592359, posLast=23342334, posLast=23132313, posLast=22592259, posLast=21322132, posLast=21272127, posLast=21022102, posLast=19851985, Lys1973, Lys1917, posLast=19131913, Lys1895, posLast=18751875, Lys1869, Lys1857, posLast=18071807, posLast=17441744, Lys1642, posLast=16271627, posLast=16171617, posLast=14891489, Lys1456, Lys1422, posLast=14121412, Lys1407, Lys1361, posLast=13341334, Lys1209, Lys1193, Lys1074, posLast=10571057, posLast=10511051, Lys1042, posLast=963963, Lys881, Lys868, Lys838, Lys828, posLast=801801, posLast=700700, posLast=692692, posLast=689689, posLast=681681, posLast=525525, posLast=520520, posLast=493493, posLast=471471, posLast=374374, Lys337, posLast=310310, posLast=263263, Lys254, Lys236, posLast=225225, Lys205, Lys148, posLast=117117, and posLast=108108
  • Modification sites at PhosphoSitePlus

Other Protein References for PRKDC Gene

Antibody Products

No data available for DME Specific Peptides for PRKDC Gene

Domains & Families for PRKDC Gene

Gene Families for PRKDC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PRKDC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78527

UniProtKB/Swiss-Prot:

PRKDC_HUMAN :
  • Belongs to the PI3/PI4-kinase family.
Family:
  • Belongs to the PI3/PI4-kinase family.
genes like me logo Genes that share domains with PRKDC: view

Function for PRKDC Gene

Molecular function for PRKDC Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates Ser-139 of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism. Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D. Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 Ser-588 and increasing CRY1 protein stability, most likely through an indirect mechanism. Interacts with CRY1 and CRY2; negatively regulates CRY1 phosphorylation. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by wortmannin. Activity of the enzyme seems to be attenuated by autophosphorylation.
GENATLAS Biochemistry:
DNA dependent serine/threonine protein kinase catalytic subunit,dimerizing with Ku antigen (see KUP70 (CLU),KUP80),involved in DNA double-strand break repair by end joining (non homologous recombination) and V(D)J recombination,same as HYRC1

Enzyme Numbers (IUBMB) for PRKDC Gene

Phenotypes From GWAS Catalog for PRKDC Gene

Gene Ontology (GO) - Molecular Function for PRKDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 22504299
GO:0003723 RNA binding HDA 22658674
GO:0004672 protein kinase activity IMP 22504299
GO:0004674 protein serine/threonine kinase activity IDA,TAS --
genes like me logo Genes that share ontologies with PRKDC: view

Phenotypes for PRKDC Gene

MGI mutant phenotypes for PRKDC:
inferred from 22 alleles
GenomeRNAi human phenotypes for PRKDC:
genes like me logo Genes that share phenotypes with PRKDC: view

Human Phenotype Ontology for PRKDC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKDC Gene

MGI Knock Outs for PRKDC:

Animal Model Products

  • Taconic Biosciences Mouse Models for PRKDC

miRNA for PRKDC Gene

miRTarBase miRNAs that target PRKDC

Clone Products

  • Addgene plasmids for PRKDC

No data available for Transcription Factor Targets and HOMER Transcription for PRKDC Gene

Localization for PRKDC Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKDC Gene

Nucleus. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKDC gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PRKDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region HDA 19135898
GO:0005634 nucleus IDA 22504299
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 19303849
GO:0005730 nucleolus IEA,IDA 27829214
genes like me logo Genes that share ontologies with PRKDC: view

Pathways & Interactions for PRKDC Gene

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

SIGNOR curated interactions for PRKDC Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PRKDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IEA --
GO:0001756 somitogenesis IEA --
GO:0001933 negative regulation of protein phosphorylation ISS --
GO:0002218 activation of innate immune response IDA 28712728
GO:0002326 B cell lineage commitment IEA --
genes like me logo Genes that share ontologies with PRKDC: view

Drugs & Compounds for PRKDC Gene

(19) Drugs for PRKDC Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, Activator, Target, inhibitor 434
Cafcit Injection Approved September 1999 Pharma 0
Wortmannin Experimental Pharma PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 0
SF1126 Investigational Pharma inhibitor, Target Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(7) Additional Compounds for PRKDC Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Compound 401
168425-64-7
NU 7441
503468-95-9

(5) Tocris Compounds for PRKDC Gene

Compound Action Cas Number
Compound 401 Selective DNA-PK and mTOR inhibitor 168425-64-7
DMNB DNA-PK inhibitor 20357-25-9
KU 0060648 Dual DNA-PK and PI 3-K inhibitor 881375-00-4
NU 7026 Selective DNA-PK inhibitor 154447-35-5
NU 7441 Potent and selective DNA-PK inhibitor 503468-95-9
genes like me logo Genes that share compounds with PRKDC: view

Transcripts for PRKDC Gene

mRNA/cDNA for PRKDC Gene

Unigene Clusters for PRKDC Gene

Protein kinase, DNA-activated, catalytic polypeptide:
Representative Sequences:

Clone Products

  • Addgene plasmids for PRKDC

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

No ASD Table

Relevant External Links for PRKDC Gene

GeneLoc Exon Structure for
PRKDC
ECgene alternative splicing isoforms for
PRKDC

Expression for PRKDC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRKDC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRKDC Gene

This gene is overexpressed in Bone (14.6).

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



Protein tissue co-expression partners for PRKDC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRKDC Gene:

PRKDC

SOURCE GeneReport for Unigene cluster for PRKDC Gene:

Hs.491682

Evidence on tissue expression from TISSUES for PRKDC Gene

  • Nervous system(4.8)
  • Lung(4.7)
  • Liver(4.5)
  • Intestine(2.8)
  • Spleen(2.5)
  • Blood(2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKDC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • skull
Thorax:
  • bronchus
  • lung
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with PRKDC: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRKDC Gene

Orthologs for PRKDC Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PRKDC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRKDC 34 33
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRKDC 34 33
  • 85.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prkdc 16 34 33
  • 81.24 (n)
rat
(Rattus norvegicus)
Mammalia Prkdc 33
  • 81.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 79 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PRKDC 34 33
  • 78.87 (n)
OneToOne
chicken
(Gallus gallus)
Aves PRKDC 34 33
  • 70.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKDC 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkdc 33
  • 66.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia prkdc-A 33
zebrafish
(Danio rerio)
Actinopterygii wu:fa96e12 33
  • 61.39 (n)
PRKDC 34
  • 58 (a)
OneToOne
wufa96e12 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003967 33
  • 40.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta mei-41 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atl-1 34
  • 14 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEC1 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToOne
Species where no ortholog for PRKDC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 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)

Evolution for PRKDC Gene

ENSEMBL:
Gene Tree for PRKDC (if available)
TreeFam:
Gene Tree for PRKDC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRKDC: view image

Paralogs for PRKDC Gene

Paralogs for PRKDC Gene

genes like me logo Genes that share paralogs with PRKDC: view

Variants for PRKDC Gene

Sequence variations from dbSNP and Humsavar for PRKDC Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1010323249 uncertain-significance, Natural killer cell and glucocorticoid deficiency with DNA repair defect 47,961,081(-) G/A upstream_transcript_variant
rs1030256203 uncertain-significance, Natural killer cell and glucocorticoid deficiency with DNA repair defect 47,960,444(-) C/A upstream_transcript_variant
rs1036151789 uncertain-significance, Natural killer cell and glucocorticoid deficiency with DNA repair defect 47,960,798(-) C/A upstream_transcript_variant
rs140123272 likely-benign, Immunodeficiency 26 with or without neurologic abnormalities 47,834,344(-) G/A/C/T coding_sequence_variant, synonymous_variant
rs147514951 likely-benign, Immunodeficiency 26 with or without neurologic abnormalities 47,840,065(-) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2663658 CNV deletion 23128226
esv2759611 CNV loss 17122850
esv3617103 CNV loss 21293372
esv3617105 CNV loss 21293372
nsv478776 CNV novel sequence insertion 20440878
nsv6179 CNV deletion 18451855
nsv6180 CNV insertion 18451855
nsv831309 CNV loss 17160897
nsv8337 CNV gain 18304495

Variation tolerance for PRKDC Gene

Gene Damage Index Score: 6.58; 78.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRKDC Gene

Human Gene Mutation Database (HGMD)
PRKDC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKDC

SNP Genotyping and Copy Number Assay Products

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

Disorders for PRKDC Gene

MalaCards: The human disease database

(8) MalaCards diseases for PRKDC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PRKDC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRKDC_HUMAN
  • Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966]: A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions. {ECO:0000269 PubMed:19075392, ECO:0000269 PubMed:23722905}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PRKDC

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

No data available for Genatlas for PRKDC Gene

Publications for PRKDC Gene

  1. Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8. (PMID: 7638222) Sipley JD … Anderson CW (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 22 58
  2. Tagging single nucleotide polymorphisms in phosphoinositide-3-kinase-related protein kinase genes involved in DNA damage "checkpoints" and lung cancer susceptibility. (PMID: 18451257) Hu Z … Shen H (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 22 44 58
  3. Autophosphorylation of the DNA-dependent protein kinase catalytic subunit is required for rejoining of DNA double-strand breaks. (PMID: 12231622) Chan DW … Chen DJ (Genes & development 2002) 3 4 22 58
  4. Frameshift mutation in PRKDC, the gene for DNA-PKcs, in the DNA repair-defective, human, glioma-derived cell line M059J. (PMID: 11418067) Anderson CW … Allalunis-Turner MJ (Radiation research 2001) 3 4 22 58
  5. MCM4 and PRKDC, human genes encoding proteins MCM4 and DNA-PKcs, are close neighbours located on chromosome 8q12-->q13. (PMID: 9284934) Ladenburger EM … Knippers R (Cytogenetics and cell genetics 1997) 3 4 22 58

Products for PRKDC Gene

  • Addgene plasmids for PRKDC

Sources for PRKDC Gene

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