COQ9 (coenzyme Q9)

2014-11-01  

Identity

HGNC
LOCATION
16q21
LOCUSID
ALIAS
C16orf49,COQ10D5
FUSION GENES

Other Information

Locus ID:

NCBI: 57017
MIM: 612837
HGNC: 25302
Ensembl: ENSG00000088682

Variants:

dbSNP: 57017
ClinVar: 57017
TCGA: ENSG00000088682
COSMIC: COQ9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088682ENST00000262507O75208
ENSG00000088682ENST00000262507A0A024R6U3
ENSG00000088682ENST00000563166H3BPW3
ENSG00000088682ENST00000563391H3BPY0
ENSG00000088682ENST00000564115H3BPC6
ENSG00000088682ENST00000564655H3BNT2
ENSG00000088682ENST00000565964H3BVA5
ENSG00000088682ENST00000567072H3BSJ5
ENSG00000088682ENST00000567933H3BRC0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Ubiquinol biosynthesisREACTOMER-HSA-2142789

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193750582009A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.74
253394432014Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.34
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
295605822018A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.5

Citation

Dessen P

COQ9 (coenzyme Q9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62030/coq9