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Gene

AGK

acylglycerol kinase

Summary

Cytogenetic location
7q34
Coordinates
Chromosome 7: 141,551,410–141,655,244 (GRCh38)
Exons
16 exons across 103.8 kb
Protein
422 amino acids
Also known as
FLJ10842
Previous symbols
MULK
MANE Select transcript
ENST00000649286.2NM_018238.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports 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.

      • 3 GenCC submitters rate it definitive or strong
      Actionability

      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.

  • Syndromic and Metabolic Cardiomyopathies

    • Sengers SyndromeAutosomal recessive

      A mitochondrial condition caused by changes in AGK that combines hypertrophic cardiomyopathy, cataracts and exercise intolerance with lactic acidosis.

      • 3 GenCC submitters rate it definitive or strong

How AGK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where AGK sits. AGK and 13 genes near it on chromosome 7, from 141,103,327 to 142,103,326.Chromosome 77q34p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3141.2 Mb141.4 Mb141.6 Mb141.8 Mb142 MbTMEM178B: 141,074,038–141,480,380, forward strandTMEM178BAGK: 141,551,410–141,655,244, forward strandAGKDENND11: 141,656,728–141,702,185, reverse strandDENND11WEE2: 141,702,227–141,731,271, forward strandWEE2SSBP1: 141,731,899–141,787,922, forward strandSSBP1TAS2R3: 141,764,097–141,765,197, forward strandTAS2R3TAS2R4: 141,776,674–141,781,691, forward strandTAS2R4TAS2R5: 141,790,217–141,791,367, forward strandTAS2R5PRSS37: 141,836,300–141,841,487, reverse strandPRSS37OR9A1P: 141,887,148–141,888,092, forward strandOR9A1PMGAM: 141,907,813–142,106,747, forward strandMGAMOR9A4: 141,916,399–141,920,625, forward strandOR9A4CLEC5A: 141,927,357–141,947,007, reverse strandCLEC5ATAS2R38: 141,972,631–141,973,773, reverse strandTAS2R38Diagram of AGK: 16 exons on the forward strand of chromosome 7Exon 2: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 3 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 4 known disease-causing sitesExon 1: 141,551,410–141,551,434, 25 basesExon 2: 141,555,453–141,555,567, 115 basesExon 3: 141,593,146–141,593,185, 40 basesExon 4: 141,596,562–141,596,641, 80 basesExon 5: 141,601,205–141,601,280, 76 basesExon 6: 141,611,195–141,611,287, 93 basesExon 7: 141,614,146–141,614,178, 33 basesExon 8: 141,615,471–141,615,565, 95 basesExon 9: 141,621,732–141,621,801, 70 basesExon 10: 141,633,901–141,633,980, 80 basesExon 11: 141,636,960–141,637,017, 58 basesExon 12: 141,641,248–141,641,398, 151 basesExon 13: 141,641,811–141,641,908, 98 basesExon 14: 141,649,263–141,649,333, 71 basesExon 15: 141,651,525–141,651,609, 85 basesExon 16: 141,652,787–141,655,244, 2,458 bases12468101214165′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 3.6 kb of the gene's 103.8 kb; 1,269 of those bases code for the protein.

Sequencing AGK

15Moderate

How hard AGK is to sequence with short reads, out of 100

  • Mappability0%
  • Homology44%
  • Repeats3.7%
  • GC content12%
  • Reference coverage0%

37

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

4 of them (11%) fall in regions short reads find hard.

  • Segmental duplications (4 sites)

A whole genome covers all 103.8 kb of AGK, introns included, not only the 3.6 kb of exons.

Genes linked to the same conditions

Traits linked to AGK

The Human Phenotype Ontology lists these as features of the rare conditions AGK can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). AGK gene: acylglycerol kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/agk

Vancouver

Dante Labs. AGK gene: acylglycerol kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/agk

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