COQ2 (coenzyme Q2, polyprenyltransferase)

2003-12-01  

Identity

HGNC
COQ2
LOCATION
4q21.23
LOCUSID
27235
ALIAS
CL640,COQ10D1,MSA1,PHB:PPT

Other Information

Locus ID:

NCBI: 27235
MIM: 609825
HGNC: 25223
Ensembl: ENSG00000173085

Variants:

dbSNP: 27235
ClinVar: 27235
TCGA: ENSG00000173085
COSMIC: COQ2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173085ENST00000311461E2QRG7
ENSG00000173085ENST00000311469Q96H96
ENSG00000173085ENST00000503391E7EPM7
ENSG00000173085ENST00000503915H0YAI0
ENSG00000173085ENST00000647002A0A1D8H0A6

Expression (GTEx)

0
5
10
15
20
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
Ubiquinone and other terpenoid-quinone biosynthesisKEGGko00130
Ubiquinone and other terpenoid-quinone biosynthesisKEGGhsa00130
Metabolic pathwaysKEGGhsa01100
Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinoneKEGGM00128
Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinoneKEGGhsa_M00128
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Ubiquinol biosynthesisREACTOMER-HSA-2142789

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotationassociatedPD20347093
PA134308647rosuvastatinChemicalClinicalAnnotationassociatedPD20347093
PA444997Muscular DiseasesDiseaseClinicalAnnotationassociatedPD20347093
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD20347093

References

Pubmed IDYearTitleCitations
384627712024Identification of COQ2 as a regulator of proliferation and lipid peroxidation through genome-scale CRISPR-Cas9 screening in myeloma cells.0
384627712024Identification of COQ2 as a regulator of proliferation and lipid peroxidation through genome-scale CRISPR-Cas9 screening in myeloma cells.0
357487222022COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition.2
357487222022COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition.2
332158592021Clinical spectrum in multiple families with primary COQ(10) deficiency.10
333971732021COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.6
332158592021Clinical spectrum in multiple families with primary COQ(10) deficiency.10
333971732021COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.6
306139282019Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.1
313983772019Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.2
306139282019Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.1
313983772019Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.2
296443972018COQ2 variants in Parkinson's disease and multiple system atrophy.4
296443972018COQ2 variants in Parkinson's disease and multiple system atrophy.4
280443272017Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.15

Citation

Dessen P

COQ2 (coenzyme Q2, polyprenyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40094/js/teaching-explorer/