COQ2

Protein identityUniProt · HPA

UniProt accession

Q96H96

Gene

COQ2

Ensembl

ENSG00000173085

Chromosome

4

Canonical length

371 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

371 residues, UniProt reviewed canonical sequence.

>Q96H96|COQ2
     1  MLGSRAAGFA RGLRAVALAW LPGWRGRSFA LARAAGAPHG GDLQPPACPE PRGRQLSLSA
    61  AAVVDSAPRP LQPYLRLMRL DKPIGTWLLY LPCTWSIGLA AEPGCFPDWY MLSLFGTGAI
   121  LMRGAGCTIN DMWDQDYDKK VTRTANRPIA AGDISTFQSF VFLGGQLTLA LGVLLCLNYY
   181  SIALGAGSLL LVITYPLMKR ISYWPQLALG LTFNWGALLG WSAIKGSCDP SVCLPLYFSG
   241  VMWTLIYDTI YAHQDKRDDV LIGLKSTALR FGENTKPWLS GFSVAMLGAL SLVGVNSGQT
   301  APYYAALGAV GAHLTHQIYT LDIHRPEDCW NKFISNRTLG LIVFLGIVLG NLWKEKKTDK
   361  TKKGIENKIE N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COQ2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

9

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

35 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COQ2.

Disease | AllUniProt

Conditions COQ2 is implicated in, by any mechanism.

• Coenzyme Q10 deficiency, primary, 1 (COQ10D1) MIM:607426
• Multiple system atrophy 1 (MSA1) MIM:146500

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 474 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Coenzyme Q10 deficiency, primary, 1
• Multiple system atrophy 1, susceptibility to
• Coenzyme Q10 deficiency
• Multiple system atrophy
• Nephrotic syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.89

gnomAD pLI

0

gnomAD missense Z

-0.03

DepMap mean gene effect

-0.4

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glycerol metabolic process
• isoprenoid biosynthetic process
• ubiquinone biosynthetic process

Molecular functions

• 4-hydroxybenzoate polyprenyltransferase activity
• prenyltransferase activity

Cellular components

• extrinsic component of mitochondrial inner membrane
• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• UbiA prenyltransferase
• UbiA prenyltransferase conserved site
• UbiA prenyltransferase superfamily
• UbiA prenyltransferase family
• 4-hydroxybenzoate polyprenyltransferase-like
• Prenyltransferase

KeywordsUniProt

• Alternative initiation
• Isoprene biosynthesis
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Neurodegeneration
• Parkinsonism
• Primary mitochondrial disease
• Transferase
• Transit peptide
• Transmembrane
• Transmembrane helix
• Ubiquinone biosynthesis