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Aliases for DGUOK Gene

Aliases for DGUOK Gene

  • Deoxyguanosine Kinase 2 3
  • DGK 3 4
  • EC 2.7.1.113 4
  • MTDPS3 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, hepatocerebral form due to dguok deficiency and mitochondrial dna depletion syndrome 3. Among its related pathways are Metabolism and Pyrimidine metabolism (KEGG). GO annotations related to this gene include nucleoside kinase activity and deoxyguanosine kinase activity. An important paralog of this gene is TK2.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DGUOK Gene

Chromosome:
2
Start:
73,926,826 bp from pter
End:
73,958,961 bp from pter
Size:
32,136 bases
Orientation:
Plus strand

Genomic View for DGUOK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q16854-DGUOK_HUMAN
    Recommended name:
    Deoxyguanosine kinase, mitochondrial
    Protein Accession:
    Q16854
    Secondary Accessions:
    • P78532
    • Q16759
    • Q4ZG09
    • Q7L1W9
    • Q96BC1

    Protein attributes for DGUOK Gene

    Size:
    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

Proteomics data for DGUOK Gene at MOPED

Post-translational modifications for DGUOK Gene

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

Other Protein References for DGUOK Gene

Antibody Products

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

Q16854

UniProtKB/Swiss-Prot:

DGUOK_HUMAN :
  • Belongs to the DCK/DGK family.
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 8706825
GO:0005524 ATP binding IEA --
GO:0019206 nucleoside kinase activity EXP --
genes like me logo Genes that share ontologies with DGUOK: view

Phenotypes for DGUOK Gene

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

Animal Model Products

miRNA for DGUOK Gene

miRTarBase miRNAs that target DGUOK

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DGUOK

In Situ Assay 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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DGUOK Gene COMPARTMENTS Subcellular localization image for DGUOK gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for DGUOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm --
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

Interacting Proteins for DGUOK Gene

Gene Ontology (GO) - Biological Process for DGUOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006468 protein phosphorylation IEA --
GO:0008617 guanosine metabolic process TAS 8692979
GO:0009157 deoxyribonucleoside monophosphate biosynthetic process TAS 8692979
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: NovoSeek, HMDB, FDA Approved Drugs, and DrugBank

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
Clofarabine Approved, Investigational Pharma Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 150
Cytarabine Approved, Investigational Pharma 995

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
deoxyguanosine
  • 2'-Deoxy-Guanosine
  • 2'-Deoxyguanosine
  • 2-Deoxyguanosine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)-Guanine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)guanine
961-07-9
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
2,2-Difluorodeoxyguanosine
2,3-dideoxyguanosine
2-Chlorodeoxyadenosine
genes like me logo Genes that share compounds with DGUOK: view

Transcripts for DGUOK Gene

Unigene Clusters for DGUOK Gene

Deoxyguanosine kinase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DGUOK

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
DGUOK
ECgene alternative splicing isoforms for
DGUOK

Expression for DGUOK Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for DGUOK Gene



SOURCE GeneReport for Unigene cluster for DGUOK Gene Hs.469022

mRNA Expression by UniProt/SwissProt for DGUOK Gene

Q16854-DGUOK_HUMAN
Tissue specificity: Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues.
genes like me logo Genes that share expression patterns with DGUOK: view

Protein tissue co-expression partners for DGUOK Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia DGUOK 35
  • 88.21 (n)
  • 84.12 (a)
DGUOK 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DGUOK 35
  • 90.13 (n)
  • 84.12 (a)
DGUOK 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dguok 35
  • 80.51 (n)
  • 75.09 (a)
Dguok 16
Dguok 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DGUOK 35
  • 99.4 (n)
  • 99.28 (a)
DGUOK 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dguok 35
  • 80.9 (n)
  • 75.66 (a)
oppossum
(Monodelphis domestica)
Mammalia DGUOK 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DGUOK 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves DGUOK 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DGUOK 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494916 35
  • 62.62 (n)
  • 55.65 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19838 35
zebrafish
(Danio rerio)
Actinopterygii dguok 35
  • 61.42 (n)
  • 57.45 (a)
dguok 36
  • 49 (a)
OneToMany
dguok 36
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10372 35
fruit fly
(Drosophila melanogaster)
Insecta dnk 36
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72040 35
  • 46.88 (n)
  • 40.18 (a)
rice
(Oryza sativa)
Liliopsida Os01g0874100 35
  • 49.9 (n)
  • 40.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for DGUOK:
  • 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

ENSEMBL:
Gene Tree for DGUOK (if available)
TreeFam:
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 MAF
rs831524 -- 73,925,052(+) tcctt(C/G)cggta upstream-variant-2KB
rs831525 -- 73,926,204(+) ACCCA(A/G)CCTAC upstream-variant-2KB
rs831526 -- 73,926,778(+) CCCCG(C/T)CGCAT upstream-variant-2KB
rs831527 -- 73,938,729(-) AGAAC(C/T)ACCAT intron-variant
rs831528 -- 73,936,804(-) AGCTA(C/G)AGGAT intron-variant

Variation tolerance for DGUOK Gene

Residual Variation Intolerance Score: 57.33% 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

HapMap Linkage Disequilibrium report
DGUOK
Human Gene Mutation Database (HGMD)
DGUOK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DGUOK Gene

Disorders for DGUOK Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency
mitochondrial dna depletion syndrome 3
  • hepatocerebral mitochondrial dna deletions syndrome autosomal recessive
adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency
  • adult-onset multiple mtdna deletion syndrome due to dguok deficiency
dguok-related mitochondrial dna depletion syndrome, hepatocerebral form
  • deoxyguanosine kinase deficiency
cystathioninuria
  • gamma-cystathionase deficiency
- elite association
Search DGUOK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

No data available for Genatlas for DGUOK Gene

Publications for DGUOK Gene

  1. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. (PMID: 19900589) Ji J.Q. … Wong L.J. (Mitochondrion 2010) 23 67
  2. Expression of the human concentrative nucleotide transporter 1 (hCNT1) gene correlates with clinical response in patients affected by WaldenstrAPm's Macroglobulinemia (WM) and small lymphocytic lymphoma (SLL) undergoing a combination treatment with 2-chloro-2'-deoxyadenosine (2-CdA) and Rituximab. (PMID: 19647871) Rabascio C. … Martinelli G. (Leuk. Res. 2010) 23 67
  3. Pediatric neurological syndromes and inborn errors of purine metabolism. (PMID: 20005278) Camici M. … Tozzi M.G. (Neurochem. Int. 2010) 23 67
  4. Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms. (PMID: 19265691) Villarroya J. … VilA M.R. (Exp. Cell Res. 2009) 23 67
  5. Acute cytotoxicity of arabinofuranosyl nucleoside analogs is not dependent on mitochondrial DNA. (PMID: 19481540) Curbo S. … Karlsson A. (Exp. Cell Res. 2009) 23 67

Products for DGUOK Gene

Sources for DGUOK Gene

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