COQ9 (coenzyme Q9)

2014-11-01

Identity

HGNC

COQ9

LOCATION

16q21

LOCUSID

57017

ALIAS

C16orf49,COQ10D5

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000088682	ENST00000262507	O75208
ENSG00000088682	ENST00000262507	A0A024R6U3
ENSG00000088682	ENST00000563166	H3BPW3
ENSG00000088682	ENST00000563391	H3BPY0
ENSG00000088682	ENST00000564115	H3BPC6
ENSG00000088682	ENST00000564655	H3BNT2
ENSG00000088682	ENST00000565964	H3BVA5
ENSG00000088682	ENST00000567072	H3BSJ5
ENSG00000088682	ENST00000567933	H3BRC0

Previous1Next

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

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)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
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
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
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
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
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

Previous1 2Next

Citation

Dessen P

COQ9 (coenzyme Q9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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