DGUOK Gene: Deoxyguanosine Kinase
Mitochondrial nucleoside kinase essential for dNTP pool maintenance and mtDNA replication
Gene Information Card
| Symbol | DGUOK |
|---|---|
| Full Name | Deoxyguanosine Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 1716 ncbi.nlm.nih.gov/gene/1716 |
| Ensembl ID | ENSG00000114956 |
| UniProt ID | Q16854 |
| OMIM ID | 601465 |
| HGNC ID | 2858 |
| Aliases | dGK, deoxyguanosine kinase, mitochondrial |
Description
DGUOK encodes deoxyguanosine kinase, a mitochondrial enzyme that phosphorylates purine deoxyribonucleosides (deoxyguanosine and deoxyadenosine) to their monophosphate forms, a critical step in the mitochondrial deoxyribonucleotide (dNTP) salvage pathway. This enzyme is essential for maintaining balanced dNTP pools required for mitochondrial DNA (mtDNA) replication and repair. Loss-of-function mutations in DGUOK cause mitochondrial DNA depletion syndrome 3 (MTDPS3), a hepatocerebral form of mtDNA depletion, and are also associated with a MNGIE-like disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 3 (MTDPS3) hepatocerebral form | Biallelic loss-of-function mutations impair dNTP salvage, leading to mtDNA depletion in liver and brain | ClinVar, OMIM #251880 |
| MNGIE-like disorder (Mitochondrial NeuroGastroIntestinal Encephalopathy-like) | Partial DGUOK deficiency reduces mtDNA copy number in affected tissues | ClinVar, OMIM #603041 |
| Progressive external ophthalmoplegia (PEO) with mtDNA deletions | Rare DGUOK variants may contribute to mtDNA instability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Medium |
| Heart | 6.1 | Low |
| Skeletal muscle | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (hepatocellular carcinoma) | 15.2 | High expression |
| SH-SY5Y (neuroblastoma) | 9.8 | Medium expression |
| HeLa (cervical carcinoma) | 7.4 | Medium expression |
| K562 (leukemia) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.679G>A (p.Glu227Lys) | Missense | ~15% of MTDPS3 cases | Loss of kinase activity; reduced mtDNA copy number |
| c.763C>T (p.Arg255*) | Nonsense | ~10% of MTDPS3 cases | Premature truncation; complete loss of function |
| c.155A>G (p.Tyr52Cys) | Missense | Rare | Partial activity reduction; associated with milder phenotype |
| c.462_463del (p.Leu155fs) | Frameshift | Rare | Loss of function; severe early-onset disease |
Mutation functional classification
Loss of Function (LOF)
Most DGUOK disease-associated mutations are loss-of-function (missense, nonsense, frameshift) that reduce or abolish kinase activity, leading to mtDNA depletion.
Gain of Function (GOF)
No gain-of-function mutations reported for DGUOK.
Dominant Negative (DN)
No dominant-negative mutations reported; DGUOK disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial dNTP salvage pathway (Reactome: R-HSA-73621)
• Pyrimidine and purine metabolism (KEGG: hsa00230
• hsa00240)
Protein Summary
Deoxyguanosine kinase (dGK) is a 277-amino acid mitochondrial matrix protein that catalyzes the phosphorylation of deoxyguanosine and deoxyadenosine using ATP as a phosphate donor. The enzyme is a homodimer and is rate-limiting for the mitochondrial purine salvage pathway. Its activity is essential for providing dGTP and dATP for mtDNA replication. Deficiency leads to imbalanced dNTP pools, causing mtDNA depletion, particularly in tissues with high oxidative phosphorylation demands such as liver and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGUOK Knockout HEK293 Cell Line | EDJ-KQ2089 | Human | 1716 | Details Get a Quote |
| DGUOK Knockout HCT 116 Cell Line | EDJ-KQ22182 | Human | 1716 | Details Get a Quote |
| DGUOK Knockout HeLa Cell Line | EDJ-KQ22183 | Human | 1716 | Details Get a Quote |
| DGUOK Knockout A-549 Cell Line | EDJ-KQ20888 | Human | 1716 | Details Get a Quote |
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