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Gene

COQ9

coenzyme Q9

Summary

Cytogenetic location
16q21
Coordinates
Chromosome 16: 57,447,479–57,461,270 (GRCh38)
Exons
9 exons across 13.8 kb
Protein
318 amino acids
Inheritance
Autosomal recessive
Also known as
DKFZP434K046
Previous symbols
C16orf49
MANE Select transcript
ENST00000262507.11NM_020312.4
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 COQ9 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where COQ9 sits. COQ9 and 21 genes near it on chromosome 16, from 56,954,375 to 57,954,374.Chromosome 1616q21p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.357 Mb57.2 Mb57.4 Mb57.6 Mb57.8 MbCETP: 56,961,922–56,983,845, forward strandCETPNLRC5: 56,989,485–57,084,238, forward strandNLRC5CPNE2: 57,092,517–57,148,369, forward strandCPNE2PSME3IP1: 57,152,466–57,186,175, reverse strandPSME3IP1RSPRY1: 57,186,137–57,242,505, forward strandRSPRY1ARL2BP: 57,245,098–57,259,830, forward strandARL2BPPLLP: 57,248,547–57,284,683, reverse strandPLLPCCL22: 57,357,925–57,366,191, forward strandCCL22CX3CL1: 57,372,457–57,385,044, forward strandCX3CL1CCL17: 57,404,767–57,416,063, forward strandCCL17CIAPIN1: 57,428,169–57,447,420, reverse strandCIAPIN1COQ9: 57,447,479–57,461,270, forward strandCOQ9POLR2C: 57,462,648–57,472,010, forward strandPOLR2CDOK4: 57,471,917–57,487,382, reverse strandDOK4CCDC102A: 57,511,805–57,537,163, reverse strandCCDC102AADGRG5: 57,528,585–57,591,681, forward strandADGRG5ADGRG1: 57,610,652–57,665,580, forward strandADGRG1ADGRG3: 57,668,106–57,689,378, forward strandADGRG3DRC7: 57,694,790–57,731,805, forward strandDRC7KATNB1: 57,735,669–57,758,271, forward strandKATNB1KIFC3: 57,755,668–57,863,053, reverse strandKIFC3CNGB1: 57,881,892–57,971,128, reverse strandCNGB1Diagram of COQ9: 9 exons on the forward strand of chromosome 16Exon 1: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 57,447,479–57,447,578, 100 basesExon 2: 57,451,040–57,451,208, 169 basesExon 3: 57,452,801–57,452,936, 136 basesExon 4: 57,456,504–57,456,646, 143 basesExon 5: 57,456,931–57,457,015, 85 basesExon 6: 57,458,246–57,458,350, 105 basesExon 7: 57,459,565–57,459,720, 156 basesExon 8: 57,460,051–57,460,104, 54 basesExon 9: 57,460,589–57,461,270, 682 bases1234567895′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 1.6 kb of the gene's 13.8 kb; 957 of those bases code for the protein.

How a genome test reads COQ9

13

positions in COQ9 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 13.8 kb of COQ9, introns included, not only the 1.6 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.). COQ9 gene: coenzyme Q9. Retrieved 16 October 2026, from https://dantelabs.com/genes/coq9

Vancouver

Dante Labs. COQ9 gene: coenzyme Q9 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/coq9

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