COQ2

Chr 4q21.23

coenzyme Q2, polyprenyltransferase

Aliases:: CL640, FLJ26072
MANE:: ENST00000647002.2

OMIM: 609825 ↗NCBI: 27235 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

COQ2 · Q96H96

v62025-08-01

Predicted Aligned Error matrix for COQ2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.3/ 100

Confident

371 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)8%
Low(50–70)3%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

coenzyme Q10 deficiency, primary, 1
0.82
multiple system atrophy
0.73
neurodegenerative disease
0.53
coenzyme Q10 deficiency
0.47
hereditary disease
0.42
mitochondrial disease
0.41
inborn mitochondrial metabolism disorder
0.37
nephrotic syndrome
0.33
focal segmental glomerulosclerosis
0.27
neonatal encephalopathy
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

4-hydroxybenzoate polyprenyltransferase, mitochondrial

Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis (PubMed:15153069, PubMed:16400613, PubMed:17374725, PubMed:20526342). Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl donor (such as all-trans-decaprenyl diphosphate) (PubMed:15153069, PubMed:16400613, PubMed:17374725, PubMed:20526342). The length of the polyprenyl side chain varies depending on the species, in humans, the side chain is comprised of 10 isoprenyls (decaprenyl) producing CoQ10 (also known as ubiquinone), whereas rodents predominantly generate CoQ9 (PubMed:15153069, PubMed:16400613). However, this specificity is not complete, human tissues have low amounts of CoQ9 and rodent organs contain some CoQ10 (PubMed:15153069). Plays a central role in the biosynthesis of CoQ10 (PubMed:15153069, PubMed:16400613, PubMed:17374725). CoQ10 is a vital molecule that transports electrons from mitochondrial respiratory chain complexes (PubMed:16400613, PubMed:17374725, PubMed:27493029). CoQs also function as cofactors for uncoupling protein and play a role as regulators of the extracellularly-induced ceramide-dependent apoptotic pathway (PubMed:16400613, PubMed:17374725). Regulates mitochondrial permeability transition pore (mPTP) opening and ROS production (pivotal events in cell death) in a tissue specific manner (By similarity)