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Aliases for DGUOK Gene

Aliases for DGUOK Gene

  • Deoxyguanosine Kinase 2 3 5
  • DGK 3 4
  • Deoxyguanosine Kinase, Mitochondrial 3
  • EC 4
  • MTDPS3 3
  • PEOB4 3
  • NCPH 3

External Ids for DGUOK Gene

Previous GeneCards Identifiers for DGUOK Gene

  • GC02P074291
  • GC02P074111
  • GC02P074128
  • GC02P074065
  • GC02P074153
  • GC02P073889

Summaries for DGUOK Gene

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 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4. Among its related pathways are Metabolism and Purine metabolism (KEGG). GO annotations related to this gene include nucleoside kinase activity and deoxyguanosine kinase activity. An important paralog of this gene is DCK.

UniProtKB/Swiss-Prot for DGUOK Gene

  • Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents.

Gene Wiki entry for DGUOK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DGUOK Gene

Genomics for DGUOK Gene

Regulatory Elements for DGUOK Gene

Enhancers for DGUOK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F073968 1.4 Ensembl ENCODE 11.1 +44.2 44175 5.2 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 SEMA4F C2orf81 LOC107985899 KRT18P26 RPSAP28 SMYD5 DGUOK-AS1 DCTN1 DGUOK WBP1
GH02F073895 0.9 Ensembl ENCODE 11.4 -30.0 -30032 1.7 MTA2 REST EBF1 TBX21 EP300 IKZF1 NBN ZBTB33 MLLT1 DGUOK TET3 STAMBP BOLA3 BOLA3-AS1 TPRKB ALMS1-IT1 SMYD5 ACTG2 GC02M073905
GH02F074019 0.9 Ensembl ENCODE 10.5 +93.9 93875 2.6 BCOR ZFP64 USF2 EBF1 ZIC2 ZNF7 RELA POLR2A EED IKZF1 DGUOK STAMBP BOLA3 BOLA3-AS1 ACTG2 DGUOK-AS1 ENSG00000279181 FNBP1P1
GH02F073869 0.7 Ensembl ENCODE 11.4 -56.3 -56349 1.4 NFE2 PRDM1 ACTG2 DGUOK BOLA3 BOLA3-AS1 STAMBP HTRA2 LOC100420774 LOC105374806
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DGUOK on UCSC Golden Path with GeneCards custom track

Promoters for DGUOK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for DGUOK Gene

73,926,826 bp from pter
73,958,961 bp from pter
32,136 bases
Plus strand

Genomic View for DGUOK Gene

Genes around DGUOK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DGUOK Gene

Proteins for DGUOK Gene

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

    Protein Symbol:
    Recommended name:
    Deoxyguanosine kinase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • P78532
    • Q16759
    • Q4ZG09
    • Q7L1W9
    • Q96BC1

    Protein attributes for DGUOK Gene

    277 amino acids
    Molecular mass:
    32056 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DGUOK Gene

    Alternative splice isoforms for DGUOK Gene

neXtProt entry for DGUOK Gene

Post-translational modifications for DGUOK Gene

  • Ubiquitination at Lys 129 and Lys 275
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DGUOK Gene

Domains & Families for DGUOK Gene

Protein Domains for DGUOK Gene

Suggested Antigen Peptide Sequences for DGUOK Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DCK/DGK family.
  • Belongs to the DCK/DGK family.
genes like me logo Genes that share domains with DGUOK: view

No data available for Gene Families for DGUOK Gene

Function for DGUOK Gene

Molecular function for DGUOK Gene

GENATLAS Biochemistry:
deoxyguanosine kinase,mitochondrial,related to DCK
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + deoxyguanosine = ADP + dGMP.
UniProtKB/Swiss-Prot Function:
Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents.

Enzyme Numbers (IUBMB) for DGUOK Gene

Gene Ontology (GO) - Molecular Function for DGUOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004138 deoxyguanosine kinase activity IDA,TAS 8706825
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0019206 nucleoside kinase activity EXP 11427893
genes like me logo Genes that share ontologies with DGUOK: view
genes like me logo Genes that share phenotypes with DGUOK: view

Human Phenotype Ontology for DGUOK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DGUOK Gene

miRTarBase miRNAs that target DGUOK

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DGUOK Gene

Localization for DGUOK Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGUOK Gene


Subcellular locations from

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 DGUOK gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for DGUOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion TAS 8692979
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with DGUOK: view

Pathways & Interactions for DGUOK Gene

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

Pathways by source for DGUOK Gene

1 BioSystems pathway for DGUOK Gene
2 KEGG pathways for DGUOK Gene

Gene Ontology (GO) - Biological Process for DGUOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006468 protein phosphorylation IEA --
GO:0008617 guanosine metabolic process TAS 8692979
GO:0009157 deoxyribonucleoside monophosphate biosynthetic process IEA --
GO:0009165 nucleotide biosynthetic process IEA --
genes like me logo Genes that share ontologies with DGUOK: view

No data available for SIGNOR curated interactions for DGUOK Gene

Drugs & Compounds for DGUOK Gene

(18) Drugs for DGUOK Gene - From: DrugBank, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nelarabine Approved, Investigational Pharma Enzyme, substrate Prodrug of ara-G for T-LBL/T-ALL 0
Arranon Approved October 2005 Pharma 0
Adenosine triphosphate Approved Nutra 0
2'-Deoxyguanosine-5'-Monophosphate Experimental Pharma 0

(16) Additional Compounds for DGUOK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2'-Deoxy-Guanosine
  • 2'-Deoxyguanosine
  • 2-Deoxyguanosine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)-Guanine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)guanine
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with DGUOK: view

Transcripts for DGUOK Gene

Unigene Clusters for DGUOK Gene

Deoxyguanosine kinase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

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: - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - - - -
SP9: -
SP10: - - - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - - - - - - - - -
SP15: - -
SP16: - - -

Relevant External Links for DGUOK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DGUOK Gene

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

Protein differential expression in normal tissues from HIPED for DGUOK Gene

This gene is overexpressed in Heart (18.3).

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

Protein tissue co-expression partners for DGUOK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DGUOK Gene:


SOURCE GeneReport for Unigene cluster for DGUOK Gene:


mRNA Expression by UniProt/SwissProt for DGUOK Gene:

Tissue specificity: Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues.
genes like me logo Genes that share expression patterns with DGUOK: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DGUOK Gene

Orthologs for DGUOK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DGUOK Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DGUOK 34 35
  • 99.4 (n)
(Canis familiaris)
Mammalia DGUOK 34 35
  • 90.13 (n)
(Bos Taurus)
Mammalia DGUOK 34 35
  • 88.21 (n)
(Rattus norvegicus)
Mammalia Dguok 34
  • 80.9 (n)
(Mus musculus)
Mammalia Dguok 34 16 35
  • 80.51 (n)
(Monodelphis domestica)
Mammalia DGUOK 35
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia DGUOK 35
  • 65 (a)
(Gallus gallus)
Aves DGUOK 35
  • 47 (a)
(Anolis carolinensis)
Reptilia DGUOK 35
  • 47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494916 34
  • 62.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19838 34
(Danio rerio)
Actinopterygii dguok 34 35 35
  • 61.42 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10372 34
fruit fly
(Drosophila melanogaster)
Insecta dnk 35
  • 30 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72040 34
  • 46.88 (n)
(Oryza sativa)
Liliopsida Os01g0874100 34
  • 49.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
Species where no ortholog for DGUOK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DGUOK Gene

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

Paralogs for DGUOK Gene

Paralogs for DGUOK Gene

(2) SIMAP similar genes for DGUOK Gene using alignment to 4 proteins:

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

Variants for DGUOK Gene

Sequence variations from dbSNP and Humsavar for DGUOK Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893631 Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880], Pathogenic 73,946,888(+) TGAGA(A/G)GTCTG intron-variant, nc-transcript-variant, reference, missense
rs104893632 Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880], Pathogenic 73,957,212(+) AACAC(A/G)AAGCC intron-variant, nc-transcript-variant, reference, missense
rs749464475 Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880] 73,958,187(+) GGTGT(C/T)GGATG nc-transcript-variant, reference, missense
VAR_076979 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
VAR_076980 Portal hypertension, non-cirrhotic (NCPH) [MIM:617068]

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

Variant ID Type Subtype PubMed ID
nsv1011177 CNV gain 25217958

Variation tolerance for DGUOK Gene

Residual Variation Intolerance Score: 57.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DGUOK Gene

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

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

Disorders for DGUOK Gene

MalaCards: The human disease database

(11) MalaCards diseases for DGUOK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 3
  • mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4
  • progressive external ophthalmoplegia, autosomal recessive 4
nodular regenerative hyperplasia
  • miliary hepatocellular adenomatosis
adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency
  • adult-onset multiple mtdna deletion syndrome due to dguok deficiency
deoxyguanosine kinase deficiency
  • dguok deficiency
- elite association - COSMIC cancer census association via MalaCards
Search DGUOK in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:12205643, ECO:0000269 PubMed:15639197}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DGUOK

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

No data available for Genatlas for DGUOK Gene

Publications for DGUOK Gene

  1. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. (PMID: 15639197) Wang L. … Eriksson S. (Mol. Genet. Metab. 2005) 3 4 22 64
  2. Mitochondrial DNA depletion and dGK gene mutations. (PMID: 12205643) Salviati L. … Vu T.H. (Ann. Neurol. 2002) 3 4 22 64
  3. Structural basis for substrate specificities of cellular deoxyribonucleoside kinases. (PMID: 11427893) Johansson K. … Eklund H. (Nat. Struct. Biol. 2001) 3 4 22 64
  4. Cloning and expression of human deoxyguanosine kinase cDNA. (PMID: 8692979) Johansson M. … Karlsson A. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 22 64
  5. Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA. (PMID: 8706825) Wang L. … Eriksson S. (FEBS Lett. 1996) 3 4 22 64

Products for DGUOK Gene

Sources for DGUOK Gene

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