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DGUOK Gene

protein-coding   GIFtS: 65
GCID: GC02P074153

Deoxyguanosine Kinase

  See DGUOK-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Deoxyguanosine Kinase1 2
dGK2 3
MTDPS32 5
DGK3 5
Deoxyguanosine Kinase, Mitochondrial2
EC 2.7.1.1133

External Ids:    HGNC: 28581   Entrez Gene: 17162   Ensembl: ENSG000001149567   OMIM: 6014655   UniProtKB: Q168543   

Export aliases for DGUOK gene to outside databases

Previous GC identifers: GC02P074291 GC02P074111 GC02P074128 GC02P074065 GC02P073889


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DGUOK Gene:
In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two
deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein
encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial
matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment
of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs.
Alternative splice variants encoding different protein isoforms have been described for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for DGUOK Gene:
DGUOK (deoxyguanosine kinase) is a protein-coding gene. Diseases associated with DGUOK include mitochondrial dna depletion syndrome 3, and dguok-related mitochondrial dna depletion syndrome, hepatocerebral form. GO annotations related to this gene include deoxyguanosine kinase activity and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is TK2.

UniProtKB/Swiss-Prot: DGUOK_HUMAN, Q16854
Function: Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely
employed as antiviral and chemotherapeutic agents

Gene Wiki entry for DGUOK Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DGUOK gene promoter:
         GR   AML1a   GR-beta   ATF-2   XBP-1   LCR-F1   RORalpha2   CRE-BP1   Pax-3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDGUOK promoter sequence
   Search Chromatin IP Primers for DGUOK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DGUOK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13

DGUOK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DGUOK gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P074153:  view genomic region     (about GC identifiers)

Start:
74,153,953 bp from pter      End:
74,186,088 bp from pter
Size:
32,136 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DGUOK_HUMAN, Q16854 (See protein sequence)
Recommended Name: Deoxyguanosine kinase, mitochondrial precursor  
Size: 277 amino acids; 32056 Da
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for DGUOK:
2OCP (3D)    
Secondary accessions: P78532 Q16759 Q4ZG09 Q96BC1
Alternative splicing: 5 isoforms:  Q16854-1   Q16854-2   Q16854-3   Q16854-4   Q16854-5   

Explore the universe of human proteins at neXtProt for DGUOK: NX_Q16854

Explore proteomics data for DGUOK at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys129, Lys275
  • Modification sites at PhosphoSitePlus

  • See DGUOK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_550438.1  NP_550440.1  

    ENSEMBL proteins: 
     ENSP00000264093   ENSP00000306964   ENSP00000408209   ENSP00000349294  
    Reactome Protein details: Q16854

    DGUOK Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR002624 Deoxynucleoside_kinase

    Graphical View of Domain Structure for InterPro Entry Q16854

    ProtoNet protein and cluster: Q16854

    1 Blocks protein domain: IPB002624 Deoxynucleoside kinase

    UniProtKB/Swiss-Prot: DGUOK_HUMAN, Q16854
    Similarity: Belongs to the DCK/DGK family


    Find genes that share domains with DGUOK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DGUOK_HUMAN, Q16854
    Function: Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely
    employed as antiviral and chemotherapeutic agents
    Catalytic activity: ATP + deoxyguanosine = ADP + dGMP

         Genatlas biochemistry entry for DGUOK:
    deoxyguanosine kinase,mitochondrial,related to DCK

         Enzyme Number (IUBMB): EC 2.7.1.1131

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004138deoxyguanosine kinase activity IDA8706825
    GO:0005524ATP binding IEA--
    GO:0016773phosphotransferase activity, alcohol group as acceptor IEA--
    GO:0019206nucleoside kinase activity EXP--
         
    Find genes that share ontologies with DGUOK           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DGUOK:
     Paclitaxel antagonistic effect 

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DGUOK_HUMAN, Q16854: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion TAS8692979
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol IEA--

    Find genes that share ontologies with DGUOK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DGUOK About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    Purine metabolism0.38
    purine deoxyribonucleosides salvage0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine salvage0.00
    Metabolism of nucleotides0.42


    Find genes that share SuperPaths with DGUOK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DGUOK
        purine deoxyribonucleosides salvage


    1 Reactome Pathway for DGUOK
        Purine salvage


    2 Kegg Pathways  (Kegg details for DGUOK):
        Purine metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DGUOK
    Interactions:

        Search GeneGlobe Interaction Network for DGUOK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for DGUOK (Q168543 ENSP000002640934) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGEA11P433643I2D: score=1 
    GUK1ENSP000003176594STRING: ENSP00000317659
    ITPAENSP000003694564STRING: ENSP00000369456
    PNPENSP000003545324STRING: ENSP00000354532
    SAMHD1ENSP000002628784STRING: ENSP00000262878
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006468protein phosphorylation IEA--
    GO:0008617guanosine metabolic process TAS8692979
    GO:0009157deoxyribonucleoside monophosphate biosynthetic process TAS8692979

    Find genes that share ontologies with DGUOK           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DGUOK

    4 HMDB Compounds for DGUOK    About this table
    CompoundSynonyms CAS #PubMed Ids
    2'-Deoxyguanosine 5'-monophosphate2'-Deoxy-5'-GMP (see all 21)902-04-5--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Deoxyguanosine2'-Deoxyguanosine (see all 11)961-07-9--

    1 DrugBank Compound for DGUOK    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NelarabineGW-506U78 (see all 2)121032-29-9enzymesubstrate17344466 20616909 18516261 18035189 19825456

    Selected Novoseek inferred chemical compound relationships for DGUOK gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxyguanosine 97.1 216 12874104 (7), 7918681 (5), 10951205 (4), 9776315 (4) (see all 95)
    9-(beta-d-arabinofuranosyl)guanine 94.7 18 9776315 (4), 11463492 (2), 8706825 (1), 9463485 (1) (see all 6)
    deoxycytidine 94.2 83 9427844 (3), 9593124 (3), 12744603 (3), 9342341 (2) (see all 44)
    deoxynucleoside 92 14 8706825 (1), 12535661 (1), 11000580 (1), 15628745 (1) (see all 8)
    2',2'-difluorodeoxyguanosine 88.8 11 9776315 (4), 9614068 (1)
    deoxyadenosine 86.5 17 11687801 (1), 9054375 (1), 9427844 (1), 9756902 (1) (see all 11)
    2-chlorodeoxyadenosine 82.3 28 9776315 (5), 7901204 (2), 16436271 (2), 8706825 (1) (see all 9)
    nucleoside 79.9 22 9463485 (3), 9614068 (3), 18600530 (2), 9776315 (2) (see all 9)
    2',3'-dideoxyguanosine 78.7 2 11181353 (1)
    deoxyribonucleotide 77.3 5 12391347 (1), 18723380 (1), 15921863 (1), 12873860 (1)



    Find genes that share compounds with DGUOK           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DGUOK gene (5 alternative transcripts): 
    NM_080916.2  NM_080918.2  NM_001929.2  NM_080915.1  NM_080917.1  

    Unigene Cluster for DGUOK:

    Deoxyguanosine kinase
    Hs.469022  [show with all ESTs]
    Unigene Representative Sequence: NM_080916
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264093(uc002sjx.3) ENST00000348222(uc002sjy.3 uc002sjz.3)
    ENST00000418996 ENST00000462551 ENST00000489796 ENST00000462685 ENST00000493055
    ENST00000356837
    miRNA
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    Additional mRNA sequence: 

    BC001121.2 BC015757.1 BC024019.1 U41668.1 

    Selected DOTS entries (see all 26):

    DT.453909  DT.95304525  DT.100825818  DT.100825815  DT.95304529  DT.121009504  DT.121009476  DT.92436943 
    DT.65286224  DT.70101216  DT.95304527  DT.97862525  DT.102827671  DT.121009492  DT.121009480  DT.121009519 
    DT.92436939  DT.92476815  DT.121009470  DT.121009489  DT.121009502  DT.92436938  DT.92436941  DT.95342984 

    Selected AceView cDNA sequences (see all 332):

    CA848273 NM_080917 BE220355 CB112238 NM_080916 AA962439 BC024019 BU553514 
    AI733600 AW027181 BM989196 AA297349 AV658486 BG756148 AI884894 AA828512 
    NM_080915 U41668 BI757811 NM_001929 CD365206 BQ673753 CA394061 BC001121 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DGUOK (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e
    SP1:                          -           -                 -     -     -                                                                     
    SP2:                                -     -                 -     -     -     -     -           -     -                                       
    SP3:                                -     -                 -     -     -                                                                     
    SP4:                          -     -     -                 -     -     -                                                                     
    SP5:                                -     -           -     -     -     -                                                                     


    ECgene alternative splicing isoforms for DGUOK

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DGUOK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTTCAGGC
    DGUOK Expression
    About this image

    DGUOK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DGUOK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469022

    UniProtKB/Swiss-Prot: DGUOK_HUMAN, Q16854
    Tissue specificity: Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DGUOK gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dguok1 , 5 deoxyguanosine kinase1, 5 80.51(n)1
    75.09(a)1
      6 (35.94 cM)5
    273691  NM_013764.21  NP_038792.21 
     834802175 
    chicken
    (Gallus gallus)
    Aves DGUOK6
    deoxyguanosine kinase
    47(a)
    1 ↔ 1
    22(2806716-2807693) ENSGALG00000022134
    lizard
    (Anolis carolinensis)
    Reptilia DGUOK6
    deoxyguanosine kinase
    47(a)
    1 ↔ 1
    GL343608.1(321527-326749)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.198382 Xenopus laevis transcribed sequence with weak similarity more 73.68(n)    BX846494.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dguok1 deoxyguanosine kinase 61.42(n)
    57.45(a)
      100005067  NM_001100091.1  NP_001093561.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dnk6
    deoxyribonucleoside kinase
    30(a)
    1 → many
    3R(14806684-14808471)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G720401 AT1G72040 46.88(n)
    40.18(a)
      843535  NM_105862.4  NP_565032.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g08741001 Os01g0874100 49.9(n)
    40.46(a)
      4324769  NM_001051491.1  NP_001044956.1 


    ENSEMBL Gene Tree for DGUOK (if available)
    TreeFam Gene Tree for DGUOK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DGUOK gene
    TK22  DCK2  
    2 SIMAP similar genes for DGUOK using alignment to 4 protein entries:     DGUOK_HUMAN (see all proteins):
    DCK    TK2

    Find genes that share paralogs with DGUOK           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DGUOK (see all 689)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0194184
    Mitochondrial DNA depletion syndrome 3 (MTDPS3)4--see VAR_0194182 E K mis40--------
    VAR_0237894
    Mitochondrial DNA depletion syndrome 3 (MTDPS3)4--see VAR_0237892 L S mis40--------
    VAR_0194174
    Mitochondrial DNA depletion syndrome 3 (MTDPS3)4--see VAR_0194172 R K mis40--------
    rs1048936301,2
    Cpathogenic174044923(+) CAGCAC/TGATGG 4 R * stg10--------
    rs1048936311,2
    Cpathogenic174045035(+) TGAGAA/GGTCTG 4 K R mis10--------
    rs1048936321,2
    Cpathogenic174055356(+) AACACG/AAAGCC 3 /K /E mis1 int11Minor allele frequency- A:0.00EU 1303
    rs17212501,2
    C,A--73888424(+) TTTTTG/TGTTTT 2 -- us2k1 trp30--------
    rs105739771,2
    C--73895809(+) CAGCA-/TTTTTAC 2 -- int10--------
    rs113066131,2
    C--73906111(+) TTTTT-/TGTAGA 2 -- int1 trp32Minor allele frequency- T:0.00NA CSA 4
    rs1454097221,2
    C--73907727(+) TGAGG-/CCTGGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for DGUOK (74153953 - 74186088 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DGUOK: --
    Human Gene Mutation Database (HGMD): DGUOK
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DGUOK
    DNA2.0 Custom Variant and Variant Library Synthesis for DGUOK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601465   
    OMIM disorders: 251880  
    UniProtKB/Swiss-Prot: DGUOK_HUMAN, Q16854
  • Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]: A disorder due to mitochondrial dysfunction
    characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids,
    and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show
    both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 8 diseases for DGUOK:    
    About MalaCards
    mitochondrial dna depletion syndrome 3    dguok-related mitochondrial dna depletion syndrome, hepatocerebral form    adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency    t lymphocyte deficiency
    mitochondrial dna depletion syndrome, hepatocerebral form    alpers syndrome    muscle glycogenosis    mitochondrial dna depletion syndrome

    3 diseases from the University of Copenhagen DISEASES database for DGUOK:
    Mitochondrial myopathy     T lymphocyte deficiency     Alpers syndrome

    Find genes that share disorders with DGUOK           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DGUOK gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    respiratory chain deficiency 78.4 3 16263314 (2)
    alpers syndrome 68.4 2 17483096 (1), 17452231 (1)
    mitochondrial diseases 58.5 1 17541738 (1)
    liver failure 55 3 19900589 (1), 18205204 (1)
    myopathy 49.5 2 15639197 (1), 16504786 (1)
    leukemia lymphocytic chronic 46.5 4 11275369 (1), 16436271 (1)
    lymphocytic leukemia chronic b-cell 43.8 1 16436271 (1)
    muscular atrophy spinal 32 1 16504786 (1)
    leukemia 17.9 3 11896543 (2), 12651272 (1)
    herpes 16.5 2 10692477 (1), 8692979 (1)

    GeneTests: DGUOK
    GeneReviews: DGUOK
    Genetic Association Database (GAD): DGUOK
    Human Genome Epidemiology (HuGE) Navigator: DGUOK (2 documents)

    Export disorders for DGUOK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DGUOK gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with DGUOK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. (PubMed id 15639197)1, 2, 9 Wang L....Eriksson S. (Mol. Genet. Metab. 2005)
    2. Cloning and expression of human deoxyguanosine kinase cDNA. (PubMed id 8692979)1, 2, 9 Johansson M. and Karlsson A. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    3. Mitochondrial DNA depletion and dGK gene mutations. (PubMed id 12205643)1, 2, 9 Salviati L.... Vu T.H. (Ann. Neurol. 2002)
    4. Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA. (PubMed id 8706825)1, 2, 9 Wang L.... Eriksson S. (FEBS Lett. 1996)
    5. Structural basis for substrate specificities of cellular deoxyribonucleoside kinases. (PubMed id 11427893)1, 2, 9 Johansson K.... Eklund H. (Nat. Struct. Biol. 2001)
    6. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PubMed id 21546767)1, 4 Murea M....Freedman B.I. (Am. J. Nephrol. 2011)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells. (PubMed id 17490647)1, 9 Franco M....Karlsson A. (Exp. Cell Res. 2007)
    10. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. (PubMed id 19900589)1, 9 Ji J.Q....Wong L.J. (Mitochondrion 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1716 HGNC: 2858 AceView: DGUOK Ensembl:ENSG00000114956 euGenes: HUgn1716
    ECgene: DGUOK Kegg: 1716 H-InvDB: DGUOK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DGUOK Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DGUOK[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DGUOK gene:
    Search GeneIP for patents involving DGUOK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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