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Gene

COQ2

coenzyme Q2, polyprenyltransferase

Summary

Cytogenetic location
4q21.23
Coordinates
Chromosome 4: 83,263,824–83,284,798 (GRCh38)
Exons
7 exons across 21 kb
Protein
371 amino acids
Inheritance
Autosomal recessive
Also known as
CL640, FLJ26072
MANE Select transcript
ENST00000647002.2NM_001358921.2
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

    • Coenzyme Q10 DeficiencyAutosomal recessive

      Caused by variants in genes needed to make coenzyme Q10, such as COQ2, COQ8A and PDSS2, which can cause kidney disease, balance problems, muscle weakness or brain disease.

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

      Knowing is actionable: primary coenzyme Q10 deficiency can respond to high-dose coenzyme Q10 supplements, especially when started early.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How COQ2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 4, with a bracket where COQ2 sits. COQ2 and 11 genes near it on chromosome 4, from 82,774,311 to 83,774,310.Chromosome 44q21.23p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.282.8 Mb83 Mb83.2 Mb83.4 Mb83.6 MbSCD5: 82,629,539–82,799,109, reverse strandSCD5SEC31A: 82,817,500–82,901,166, reverse strandSEC31ATHAP9: 82,900,684–82,920,287, forward strandTHAP9LIN54: 82,909,973–83,012,991, reverse strandLIN54COPS4: 83,034,447–83,075,818, forward strandCOPS4PLAC8: 83,059,493–83,137,075, reverse strandPLAC8COQ2: 83,263,824–83,284,798, reverse strandCOQ2HPSE: 83,292,461–83,335,153, reverse strandHPSEHELQ: 83,406,976–83,455,900, reverse strandHELQMRPS18C: 83,455,930–83,475,844, forward strandMRPS18CABRAXAS1: 83,459,517–83,523,348, reverse strandABRAXAS1GPAT3: 83,535,619–83,605,875, forward strandGPAT3Diagram of COQ2: 7 exons on the reverse strand of chromosome 4Exon 7: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 10 known disease-causing sitesExon 7: 83,263,824–83,264,363, 540 basesExon 6: 83,267,586–83,267,774, 189 basesExon 5: 83,269,860–83,269,993, 134 basesExon 4: 83,272,087–83,272,172, 86 basesExon 3: 83,273,496–83,273,617, 122 basesExon 2: 83,278,948–83,279,114, 167 basesExon 1: 83,284,512–83,284,798, 287 bases76543215′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 1.5 kb of the gene's 21 kb; 1,116 of those bases code for the protein.

How a genome test reads COQ2

28

positions in COQ2 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 21 kb of COQ2, introns included, not only the 1.5 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.). COQ2 gene: coenzyme Q2, polyprenyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/coq2

Vancouver

Dante Labs. COQ2 gene: coenzyme Q2, polyprenyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/coq2

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