Identity
HGNC
LOCATION
2p13.1
LOCUSID
ALIAS
MTDPS3,NCPH,PEOB4,dGK
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1716
MIM: 601465
HGNC: 2858
Ensembl: ENSG00000114956
Variants:
dbSNP: 1716
ClinVar: 1716
TCGA: ENSG00000114956
COSMIC: DGUOK
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38027095 | 2023 | Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia. | 0 |
| 38027095 | 2023 | Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia. | 0 |
| 28493820 | 2017 | Deoxyguanosine kinase deficiency: a report of four patients. | 5 |
| 28493820 | 2017 | Deoxyguanosine kinase deficiency: a report of four patients. | 5 |
| 26773591 | 2016 | Potentially 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. | 13 |
| 26874653 | 2016 | Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. | 18 |
| 27324545 | 2016 | [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome]. | 2 |
| 26773591 | 2016 | Potentially 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. | 13 |
| 26874653 | 2016 | Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. | 18 |
| 27324545 | 2016 | [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome]. | 2 |
| 24940680 | 2014 | Mitochondrial thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells. | 3 |
| 24940680 | 2014 | Mitochondrial thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells. | 3 |
| 23043144 | 2012 | Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. | 43 |
| 23043144 | 2012 | Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. | 43 |
| 21107780 | 2011 | Post 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. | 18 |
Citation
Dessen P
DGUOK (deoxyguanosine kinase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62459/dguok-(deoxyguanosine-kinase)
