COQ10A (coenzyme Q10A)

2014-08-01  

Identity

HGNC
COQ10A
LOCATION
12q13.3
LOCUSID
93058
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 93058
HGNC: 26515
Ensembl: ENSG00000135469

Variants:

dbSNP: 93058
ClinVar: 93058
TCGA: ENSG00000135469
COSMIC: COQ10A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135469ENST00000308197Q96MF6
ENSG00000135469ENST00000433805Q96MF6
ENSG00000135469ENST00000546544Q96MF6
ENSG00000135469ENST00000551814H0YHW3
ENSG00000135469ENST00000553234H0YHF1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
214588152011Rosuvastatin combined with regular exercise preserves coenzyme Q10 levels associated with a significant increase in high-density lipoprotein cholesterol in patients with coronary artery disease.10
226454532012The relationship between coenzyme Q10, oxidative stress, and antioxidant enzymes activities and coronary artery disease.9
216403502011Relationship between plasma coenzyme Q10, asymmetric dimethylarginine and arterial stiffness in patients with phenotypic or genotypic familial hypercholesterolemia on long-term statin therapy.4
254630642014Serum coenzyme Q10 and risk of disabling dementia: the Circulatory Risk in Communities Study (CIRCS).4
198919632010Effects of acetylsalicylic acid on serum paraoxonase activity, Ox-LDL, coenzyme Q10 and other oxidative stress markers in healthy volunteers.3
269108852016Coenzyme Q10 redox state predicts the concentration of c-reactive protein in a large caucasian cohort.3
234949022013Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology.2
267682962015Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population.2
301560302019Coenzyme Q10 in acute influenza.2

Citation

Dessen P

COQ10A (coenzyme Q10A)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54229/coq10a