COQ2 (coenzyme Q2, polyprenyltransferase)

2003-12-01  

Identity

HGNC
LOCATION
4q21.23
LOCUSID
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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotationassociatedPD20347093
PA134308647rosuvastatinChemicalClinicalAnnotationassociatedPD20347093
PA444997Muscular DiseasesDiseaseClinicalAnnotationassociatedPD20347093
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD20347093

References

Pubmed IDYearTitleCitations
178556352007COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.119
164006132006A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.98
237582062013Mutations in COQ2 in familial and sporadic multiple-system atrophy.95
173328952007Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.69
173747252007Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.52
224903222012Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.51
205079402010Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.30
173762242007Genetic determinants of statin intolerance.28
242621832014Update on novel familial forms of Parkinson's disease and multiple system atrophy.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

COQ2 (coenzyme Q2, polyprenyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40094/coq2