DGUOK (deoxyguanosine kinase)

2014-11-01  

Identity

HGNC
LOCATION
2p13.1
LOCUSID
ALIAS
MTDPS3,NCPH,PEOB4,dGK
FUSION GENES

Other Information

Locus ID:

NCBI: 1716
MIM: 601465
HGNC: 2858
Ensembl: ENSG00000114956

Variants:

dbSNP: 1716
ClinVar: 1716
TCGA: ENSG00000114956
COSMIC: DGUOK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114956ENST00000264093Q16854
ENSG00000114956ENST00000264093E5KSL5
ENSG00000114956ENST00000348222Q16854
ENSG00000114956ENST00000348222E5KSL6
ENSG00000114956ENST00000418996Q16854
ENSG00000114956ENST00000418996A0A0S2Z3N1
ENSG00000114956ENST00000629438Q16854
ENSG00000114956ENST00000629438A0A0S2Z3N1

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine salvageREACTOMER-HSA-74217

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
182052042008Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.36
230431442012Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.31
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
170738232007Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.12
211077802011Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.11
267735912016Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.11
193942582009The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.9
122107982002A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.7
158832612005New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.7
268746532016Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.7

Citation

Dessen P

DGUOK (deoxyguanosine kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62459/dguok