Identity
HGNC
LOCATION
16q21
LOCUSID
ALIAS
C16orf49,COQ10D5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57017
MIM: 612837
HGNC: 25302
Ensembl: ENSG00000088682
Variants:
dbSNP: 57017
ClinVar: 57017
TCGA: ENSG00000088682
COSMIC: COQ9
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism | REACTOME | R-HSA-1430728 |
| Metabolism of lipids and lipoproteins | REACTOME | R-HSA-556833 |
| Ubiquinol biosynthesis | REACTOME | R-HSA-2142789 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36306796 | 2022 | Structure and functionality of a multimeric human COQ7:COQ9 complex. | 13 |
| 36306796 | 2022 | Structure and functionality of a multimeric human COQ7:COQ9 complex. | 13 |
| 34105294 | 2021 | DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation. | 14 |
| 34105294 | 2021 | DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation. | 14 |
| 29560582 | 2018 | A family segregating lethal neonatal coenzyme Q(10) deficiency caused by mutations in COQ9. | 15 |
| 29560582 | 2018 | A family segregating lethal neonatal coenzyme Q(10) deficiency caused by mutations in COQ9. | 15 |
| 25339443 | 2014 | Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. | 64 |
| 25339443 | 2014 | Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. | 64 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19375058 | 2009 | A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. | 101 |
| 19375058 | 2009 | A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. | 101 |
Citation
Dessen P
COQ9 (coenzyme Q9)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62030/coq9-(coenzyme-q9)
