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Gene

DGUOK

deoxyguanosine kinase

Summary

Cytogenetic location
2p13.1
Coordinates
Chromosome 2: 73,926,880–73,958,946 (GRCh38)
Exons
7 exons across 32.1 kb
Protein
277 amino acids
Also known as
dGK
MANE Select transcript
ENST00000264093.9NM_080916.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Primary Mitochondrial Disease

    • Mitochondrial DNA Depletion Syndrome

      Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.

How DGUOK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where DGUOK sits. DGUOK and 18 genes near it on chromosome 2, from 73,442,913 to 74,442,912.Chromosome 22p13.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.373.6 Mb73.8 Mb74 Mb74.2 Mb74.4 MbALMS1: 73,385,758–73,625,166, forward strandALMS1NAT8: 73,640,723–73,643,229, reverse strandNAT8TPRKB: 73,709,704–73,737,421, reverse strandTPRKBDUSP11: 73,761,782–73,780,173, reverse strandDUSP11C2orf78: 73,784,183–73,817,148, forward strandC2orf78STAMBP: 73,828,916–73,873,670, forward strandSTAMBPACTG2: 73,892,232–73,919,865, forward strandACTG2DGUOK: 73,926,880–73,958,946, forward strandDGUOKTET3: 73,984,910–74,108,177, forward strandTET3BOLA3: 74,133,333–74,147,977, reverse strandBOLA3MOB1A: 74,152,528–74,178,932, reverse strandMOB1AMTHFD2: 74,186,172–74,218,432, forward strandMTHFD2: 74,211,604–74,363,377, reverse strandSLC4A5: 74,216,242–74,343,416, reverse strandSLC4A5DCTN1: 74,361,154–74,392,087, reverse strandDCTN1: 74,393,836–74,421,662, reverse strandC2orf81: 74,414,176–74,421,655, reverse strandC2orf81WDR54: 74,421,477–74,425,770, forward strandWDR54RTKN: 74,424,131–74,442,422, reverse strandRTKNDiagram of DGUOK: 7 exons on the forward strand of chromosome 2Exon 1: 4 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 1: 73,926,880–73,927,052, 173 basesExon 2: 73,938,910–73,939,022, 113 basesExon 3: 73,946,719–73,946,906, 188 basesExon 4: 73,950,585–73,950,732, 148 basesExon 5: 73,957,125–73,957,240, 116 basesExon 6: 73,958,146–73,958,245, 100 basesExon 7: 73,958,710–73,958,946, 237 bases12345675′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.1 kb of the gene's 32.1 kb; 834 of those bases code for the protein.

How a genome test reads DGUOK

28

positions in DGUOK where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 32.1 kb of DGUOK, introns included, not only the 1.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). DGUOK gene: deoxyguanosine kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/dguok

Vancouver

Dante Labs. DGUOK gene: deoxyguanosine kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dguok

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