DGUOK Chromosome 2
Deoxyguanosine kinase
Upload your DNA to see your personal genotypes for variants in DGUOK.
What This Gene Does
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]
Gene Info
Gene Group
Deoxyribonucleoside kinases
Locus Type
gene with protein product
Location
2p13.1
Ensembl
ENSG00000114956
Associated Conditions (12)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 4
Inborn genetic diseases
Portal hypertension
noncirrhotic
1
Autosomal recessive DGUOK-related disorders
Mitochondrial disease
Lung cancer
See cases
Key Variants
RS115206553
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Health Risk
RS1306395752
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Health Risk
RS138034585
Conflicting classifications of pathogenicity
DGUOK-related disorder, DGUOK-related disorder
Health Risk
RS141810774
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Health Risk
RS144181978
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Inborn genetic diseases
Health Risk
RS147551003
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Health Risk
RS148915942
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Health Risk
RS184770596
Conflicting classifications of pathogenicity
Inborn genetic diseases, Portal hypertension, noncirrhotic
Health Risk
RS199531052
Conflicting classifications of pathogenicity
DGUOK-related disorder, DGUOK-related disorder
Health Risk
RS199645258
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Health Risk
RS200169027
Conflicting classifications of pathogenicity
DGUOK-related disorder, Inborn genetic diseases, DGUOK-related disorder
Health Risk
RS370071744
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Inborn genetic diseases, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2466941817 | Health Risk | Pathogenic | — |
| RS2466997899 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| RS2466998379 | Health Risk | Pathogenic | — |
| RS2466998390 | Health Risk | Pathogenic | — |
| RS2467049254 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2467049358 | Health Risk | Pathogenic | — |
| RS534297082 | Health Risk | Pathogenic | — |
| RS747046961 | Health Risk | Pathogenic | — |
| RS747744094 | Health Risk | Pathogenic | — |
| RS748597500 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension, noncirrhotic |
| RS749464475 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), See cases, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| RS757874547 | Health Risk | Pathogenic | — |
| RS759093548 | Health Risk | Pathogenic | — |
| RS770802920 | Health Risk | Pathogenic | — |
| RS863223948 | Health Risk | Pathogenic | — |
| RS863223949 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
| RS879255617 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS886037613 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| RS886037615 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| RS940941896 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension, noncirrhotic |
| RS104893631 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
| RS104893633 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension, noncirrhotic |
| RS1204316787 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| RS1408950500 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Portal hypertension |
| RS150678946 | Health Risk | Pathogenic/Likely pathogenic | DGUOK-related disorder, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder |
| RS528587600 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
| RS762550967 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS763615602 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Portal hypertension |
| RS763706988 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS767604650 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS770950831 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |