Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1716
Gene name	Deoxyguanosine kinase
Gene symbol	DGUOK
Synonyms (NCBI Gene)	MTDPS3NCPHNCPH1PEOB4dGK
Chromosome	2
Chromosome location	2p13.1
Summary	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 fo

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74874677	A>G	Benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs104893630	C>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs104893631	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs104893632	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs115206553	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, non coding transcript variant, synonymous variant, coding sequence variant
rs140307681	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs144181978	T>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs147551003	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs150678946	G>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs375686551	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs536746349	C>G	Pathogenic, pathogenic-likely-pathogenic	Intron variant
rs587780587	T>C	Likely-pathogenic	Intron variant, missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs748597500	G>A	Pathogenic	Synonymous variant, intron variant, coding sequence variant, non coding transcript variant
rs762550967	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs763615602	A>G	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs770950831	A>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs775871024	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, synonymous variant, intron variant, coding sequence variant
rs863223948	G>C,T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs863223949	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs879255617	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant, non coding transcript variant
rs886037613	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs886037615	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1057524864	G>A	Pathogenic	Splice donor variant, intron variant
rs1204316787	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs1553401827	T>A	Likely-pathogenic	Splice donor variant, intron variant
rs1553403687	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1558650352	AA>T	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1573582059	T>G	Likely-pathogenic	Intron variant, splice donor variant

Show/Hide all (40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT934327	hsa-miR-1273g	CLIP-seq
MIRT934328	hsa-miR-3689a-3p	CLIP-seq
MIRT934329	hsa-miR-3689c	CLIP-seq
MIRT934330	hsa-miR-4267	CLIP-seq
MIRT934331	hsa-miR-4270	CLIP-seq
MIRT934332	hsa-miR-4293	CLIP-seq
MIRT934333	hsa-miR-4425	CLIP-seq
MIRT934334	hsa-miR-4441	CLIP-seq
MIRT934335	hsa-miR-4685-5p	CLIP-seq
MIRT934336	hsa-miR-495	CLIP-seq
MIRT934337	hsa-miR-526b	CLIP-seq
MIRT934338	hsa-miR-759	CLIP-seq
MIRT934339	hsa-miR-876-3p	CLIP-seq
MIRT934340	hsa-miR-1305	CLIP-seq
MIRT934341	hsa-miR-3977	CLIP-seq
MIRT934342	hsa-miR-4470	CLIP-seq
MIRT934343	hsa-miR-4698	CLIP-seq
MIRT934344	hsa-miR-570	CLIP-seq
MIRT934345	hsa-miR-607	CLIP-seq
MIRT934338	hsa-miR-759	CLIP-seq
MIRT934331	hsa-miR-4270	CLIP-seq
MIRT934332	hsa-miR-4293	CLIP-seq
MIRT934334	hsa-miR-4441	CLIP-seq
MIRT2211945	hsa-miR-4539	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004136	Function	Deoxyadenosine kinase activity	IEA
GO:0004138	Function	Deoxyguanosine kinase activity	IBA
GO:0004138	Function	Deoxyguanosine kinase activity	IDA	8706825
GO:0004138	Function	Deoxyguanosine kinase activity	IEA
GO:0004138	Function	Deoxyguanosine kinase activity	TAS	8692979
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	19221117
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8692979
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0008617	Process	Guanosine metabolic process	TAS	8692979
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019136	Function	Deoxynucleoside kinase activity	IEA
GO:0042775	Process	Mitochondrial ATP synthesis coupled electron transport	IEA
GO:0046070	Process	DGTP metabolic process	IEA
GO:0046122	Process	Purine deoxyribonucleoside metabolic process	IDA	8706825
GO:0106383	Process	DAMP salvage	IDA	19221117
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA

MIM	HGNC	e!Ensembl
601465	2858	ENSG00000114956

Q16854

Protein name

Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113) (Deoxyadenosine kinase, mitochondrial) (EC 2.7.1.76)

Protein function

Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:11687801, PubMed:17073823, PubMed:23043144, PubMed:8692979, PubMed:8706825). In non-replicating cells, where cyt

PDB

2OCP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01712	dNK	41 → 275	Deoxynucleoside kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues. {ECO:0000269|PubMed:8706825}.

Sequence

MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTK
TYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLK
VQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEF
ASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFE
ALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL

Sequence length

277

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism		Purine salvage

177

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DGUOK-related disorder	Pathogenic; Likely pathogenic	rs748597500, rs763706988, rs104893632, rs150678946, rs2467050151, rs1204316787, rs770950831	RCV004528983 RCV004528095 RCV004540991 RCV003930119 RCV004529633 RCV005898544 RCV004751686
Lung cancer	Pathogenic	rs748597500	RCV005893492
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic; Likely pathogenic	rs940941896, rs587780587, rs528587600, rs748597500, rs863223949, rs886037613, rs104893630, rs763706988, rs886037615, rs104893631, rs104893632, rs104893633, rs763615602, rs886037846, rs150678946 View all (11 more)	RCV005023254 RCV000122730 RCV004587246 RCV000763090 RCV000239539 RCV000008631 RCV000008632 RCV000008633 RCV000008634 RCV000008635 RCV000008636 RCV000008637 RCV001824706 RCV001824707 RCV004596155 RCV003314271 RCV005029978 RCV003335982 RCV003475818 RCV003475819 RCV004555148 RCV005034066 RCV000578318 RCV000578402 RCV005240514 RCV000986778
Portal hypertension, noncirrhotic	Pathogenic; Likely pathogenic	rs748597500, rs763615602	RCV000763090 RCV000239586
Portal hypertension, noncirrhotic, 1	Pathogenic; Likely pathogenic	rs940941896, rs528587600, rs748597500, rs763706988, rs104893632, rs104893633, rs763615602, rs1408950500, rs140307681	RCV005023254 RCV005023417 RCV005025317 RCV005025033 RCV004795384 RCV004795385 RCV001799645 RCV005029978 RCV005034066
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	Pathogenic; Likely pathogenic	rs940941896, rs528587600, rs748597500, rs863223949, rs763706988, rs104893631, rs104893632, rs104893633, rs763615602, rs762550967, rs879255617, rs1408950500, rs140307681	RCV005023254 RCV005023417 RCV000763090 RCV000239503 RCV005025033 RCV005252668 RCV004795384 RCV004795385 RCV000239535 RCV000239555 RCV000239511 RCV005029978 RCV005034066
See cases	Pathogenic	rs749464475	RCV002252170

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Malignant tumor of esophagus	Likely benign	rs528587600	RCV005898917
Mitochondrial disease	Uncertain significance	rs139369863, rs184770596	RCV005369914 RCV005361102
Mitochondrial DNA depletion syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs10186730, rs753666732, rs749290011, rs554820333, rs567251538	RCV000368338 RCV000299342 RCV000335890 RCV000307695 RCV000391359

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	31633874
Adenoma Islet Cell	Associate	21107780
Alzheimer Disease	Associate	25311278
Cardiomyopathies	Associate	33484326
Cognition Disorders	Associate	23043144
Congenital Hyperinsulinism	Associate	38027095
Death	Associate	30509056, 31664948
Deoxyguanosine Kinase Deficiency	Inhibit	21107780
Deoxyguanosine Kinase Deficiency	Associate	32703289
Drug Related Side Effects and Adverse Reactions	Associate	9614068
Failure to Thrive	Associate	31664948
Fetal Growth Retardation	Associate	31664948
Glucose Metabolism Disorders	Associate	21107780
Hepatic Encephalopathy	Associate	31664948
Hyperinsulinism	Associate	21107780
Hyperplasia	Associate	21107780
Hypersensitivity Immediate	Associate	31633874
Iron Overload	Associate	21107780, 34026460
Jaundice	Associate	31664948
Liver Diseases	Associate	27482763
Liver Failure	Associate	21107780, 34026460, 38027095
Liver Failure Acute	Associate	22602837, 27482763, 27483465
Lung Neoplasms	Associate	31633874
Mitochondrial Diseases	Associate	27483465
Mitochondrial encephalopathy	Associate	33484326
Mitochondrial Myopathies	Associate	23043144
Motor Neuron Disease	Associate	23043144
Myelodysplastic Syndromes	Associate	19265691, 29052564
Neoplasm Metastasis	Inhibit	31633874
Neoplasms	Associate	31633874, 9614068
Ophthalmoplegia Chronic Progressive External	Associate	23043144
Rhabdomyolysis	Associate	23043144
Visceral myopathy familial external ophthalmoplegia	Associate	14623087, 17073823, 19265691, 21107780, 22011815, 22137549, 23043144, 26342080, 30509056, 31664948, 34026460, 38027095
Zellweger Syndrome	Associate	26342080

DGUOK (deoxyguanosine kinase)