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Gene

COQ8B

coenzyme Q8B

Summary

Cytogenetic location
19q13.2
Coordinates
Chromosome 19: 40,691,530–40,716,886 (GRCh38)
Exons
15 exons across 25.4 kb
Protein
544 amino acids
Also known as
FLJ12229, COQ8
Previous symbols
ADCK4
MANE Select transcript
ENST00000324464.8NM_024876.4
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

  • Nephrotic Syndrome

    • Nephrosis

      Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.

      • 2 GenCC submitters rate it definitive or strong

How COQ8B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where COQ8B sits. COQ8B and 30 genes near it on chromosome 19, from 40,204,208 to 41,204,207.Chromosome 1919q13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4340.4 Mb40.6 Mb40.8 Mb41 Mb41.2 MbMAP3K10: 40,191,412–40,215,579, forward strandMAP3K10TTC9B: 40,216,058–40,218,521, reverse strandTTC9BCCNP: 40,222,208–40,226,697, reverse strandCCNPAKT2: 40,230,317–40,285,536, reverse strandAKT2C19orf47: 40,294,427–40,348,547, reverse strandC19orf47PLD3: 40,348,453–40,389,472, forward strandPLD3HIPK4: 40,379,271–40,390,181, reverse strandHIPK4PRX: 40,393,764–40,415,070, reverse strandPRXSERTAD1: 40,421,589–40,426,001, reverse strandSERTAD1SERTAD3: 40,440,642–40,445,114, reverse strandSERTAD3BLVRB: 40,446,758–40,465,826, reverse strandBLVRBSPTBN4: 40,466,241–40,576,464, forward strandSPTBN4SHKBP1: 40,576,844–40,591,399, forward strandSHKBP1LTBP4: 40,592,883–40,629,821, forward strandLTBP4NUMBL: 40,665,905–40,690,972, reverse strandNUMBLCOQ8B: 40,691,530–40,716,886, reverse strandCOQ8BITPKC: 40,716,964–40,740,860, forward strandITPKCACTMAP: 40,740,856–40,751,813, reverse strandACTMAPSNRPA: 40,750,585–40,765,393, forward strandSNRPAMIA: 40,768,997–40,777,490, forward strandMIAMIA-RAB4B: 40,771,648–40,796,943, forward strandMIA-RAB4BRAB4B: 40,778,191–40,798,690, forward strandRAB4B-EGLN2: 40,778,242–40,808,418, forward strandEGLN2: 40,798,996–40,857,708, forward strandEGLN2: 40,801,297–40,898,282, forward strandCYP2A6: 40,841,915–40,850,493, reverse strandCYP2A6CYP2A7: 40,873,525–40,882,752, reverse strandCYP2A7CYP2B6: 40,991,131–41,018,413, forward strandCYP2B6CYP2A13: 41,088,451–41,096,195, forward strandCYP2A13CYP2F1: 41,114,432–41,128,381, forward strandCYP2F1CYP2S1: 41,192,911–41,207,540, forward strandCYP2S1Diagram of COQ8B: 15 exons on the reverse strand of chromosome 19Exon 15: 5 known disease-causing sitesExon 12: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 15: 40,691,530–40,692,373, 844 basesExon 14: 40,692,951–40,693,037, 87 basesExon 13: 40,695,989–40,696,054, 66 basesExon 12: 40,700,067–40,700,174, 108 basesExon 11: 40,700,310–40,700,451, 142 basesExon 10: 40,702,600–40,702,693, 94 basesExon 9: 40,703,541–40,703,622, 82 basesExon 8: 40,703,715–40,703,855, 141 basesExon 7: 40,705,096–40,705,181, 86 basesExon 6: 40,705,325–40,705,447, 123 basesExon 5: 40,710,059–40,710,136, 78 basesExon 4: 40,714,067–40,714,133, 67 basesExon 3: 40,714,278–40,714,397, 120 basesExon 2: 40,714,531–40,714,635, 105 basesExon 1: 40,716,587–40,716,886, 300 bases15141210864215′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 2.4 kb of the gene's 25.4 kb; 1,635 of those bases code for the protein.

How a genome test reads COQ8B

20

positions in COQ8B 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 25.4 kb of COQ8B, introns included, not only the 2.4 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.). COQ8B gene: coenzyme Q8B. Retrieved 16 October 2026, from https://dantelabs.com/genes/coq8b

Vancouver

Dante Labs. COQ8B gene: coenzyme Q8B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/coq8b

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