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Gene

COQ4

coenzyme Q4

Summary

Cytogenetic location
9q34.11
Coordinates
Chromosome 9: 128,322,839–128,334,072 (GRCh38)
Exons
7 exons across 11.2 kb
Protein
265 amino acids
Inheritance
Autosomal recessive
Also known as
CGI-92
MANE Select transcript
ENST00000300452.8NM_016035.5
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 COQ4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where COQ4 sits. COQ4 and 33 genes near it on chromosome 9, from 127,828,456 to 128,828,455.Chromosome 99q34.11p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3128 Mb128.2 Mb128.4 Mb128.6 Mb128.8 MbENG: 127,811,130–127,855,232, reverse strandENGAK1: 127,866,435–127,878,558, reverse strandAK1: 127,867,850–127,906,022, reverse strandST6GALNAC6: 127,885,320–127,906,632, reverse strandST6GALNAC4: 127,906,919–127,917,057, reverse strandST6GALNAC4PIP5KL1: 127,920,881–127,930,823, reverse strandPIP5KL1DPM2: 127,935,090–127,937,879, reverse strandDPM2EEIG1: 127,939,491–127,981,075, reverse strandEEIG1NAIF1: 128,061,233–128,068,206, reverse strandNAIF1SLC25A25: 128,068,169–128,109,245, forward strandSLC25A25PTGES2: 128,120,693–128,128,462, reverse strandPTGES2LCN2: 128,149,071–128,153,454, forward strandLCN2BBLN: 128,160,219–128,163,928, forward strandBBLNCIZ1: 128,161,233–128,204,482, reverse strandCIZ1DNM1: 128,191,655–128,255,254, forward strandDNM1GOLGA2: 128,255,829–128,276,036, reverse strandGOLGA2SWI5: 128,275,379–128,316,123, forward strandSWI5TRUB2: 128,305,159–128,322,741, reverse strandTRUB2COQ4: 128,322,839–128,334,072, forward strandCOQ4SLC27A4: 128,340,475–128,363,283, forward strandSLC27A4URM1: 128,371,341–128,392,017, forward strandURM1CERCAM: 128,411,575–128,437,362, forward strandCERCAMODF2: 128,455,181–128,502,162, forward strandODF2GLE1: 128,504,655–128,543,874, forward strandGLE1SPTAN1: 128,552,558–128,633,663, forward strandSPTAN1DYNC2I2: 128,633,646–128,656,847, reverse strandDYNC2I2SET: 128,683,424–128,696,400, forward strandSETPKN3: 128,702,489–128,720,924, forward strandPKN3ZDHHC12: 128,720,862–128,724,146, reverse strandZDHHC12ZER1: 128,729,785–128,772,414, reverse strandZER1TBC1D13: 128,787,227–128,810,432, forward strandTBC1D13ENDOG: 128,818,451–128,822,683, forward strandENDOGSPOUT1: 128,819,651–128,829,838, reverse strandSPOUT1KYAT1: 128,819,663–128,881,931, reverse strandKYAT1Diagram of COQ4: 7 exons on the forward strand of chromosome 9Exon 1: 5 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 1: 128,322,839–128,322,928, 90 basesExon 2: 128,323,016–128,323,147, 132 basesExon 3: 128,325,143–128,325,239, 97 basesExon 4: 128,325,779–128,325,881, 103 basesExon 5: 128,332,153–128,332,282, 130 basesExon 6: 128,332,850–128,332,943, 94 basesExon 7: 128,333,474–128,334,072, 599 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 1.2 kb of the gene's 11.2 kb; 798 of those bases code for the protein.

How a genome test reads COQ4

37

positions in COQ4 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 11.2 kb of COQ4, introns included, not only the 1.2 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.). COQ4 gene: coenzyme Q4. Retrieved 16 October 2026, from https://dantelabs.com/genes/coq4

Vancouver

Dante Labs. COQ4 gene: coenzyme Q4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/coq4

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