COQ10A

Summary

COQ10A (coenzyme Q10A, HGNC:26515) is a protein-coding gene on chromosome 12q13.3, encoding Coenzyme Q-binding protein COQ10 homolog A, mitochondrial (Q96MF6). Required for the function of coenzyme Q in the respiratory chain.

Predicted to enable ubiquinone binding activity. Predicted to be involved in cellular respiration. Located in mitochondrion.

Source: NCBI Gene 93058 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_144576

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26515
Approved symbol	COQ10A
Name	coenzyme Q10A
Location	12q13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32452
Ensembl gene	ENSG00000135469
Ensembl biotype	protein_coding
OMIM	620736
Entrez	93058

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 5 retained_intron

ENST00000308197, ENST00000433805, ENST00000546544, ENST00000546614, ENST00000549545, ENST00000550071, ENST00000551566, ENST00000551814, ENST00000551911, ENST00000553234, ENST00000925657, ENST00000925658, ENST00000950402

RefSeq mRNA: 2 — MANE Select: NM_144576 NM_001099337, NM_144576

CCDS: CCDS41796, CCDS44921

Canonical transcript exons

ENST00000308197 — 5 exons

Exon	Start	End
ENSE00000920314	56269059	56269251
ENSE00001286889	56266942	56267252
ENSE00002417329	56270150	56270966
ENSE00003609147	56269460	56269561
ENSE00003682702	56267794	56267940

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 99.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1041 / max 215.6569, expressed in 1752 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126096	3.9494	1538
126097	3.6107	1403
126098	1.3420	641
126100	0.1072	32
126099	0.0948	52

Top tissues by expression

257 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.00	gold quality
apex of heart	UBERON:0002098	98.72	gold quality
vastus lateralis	UBERON:0001379	98.35	gold quality
biceps brachii	UBERON:0001507	98.30	gold quality
quadriceps femoris	UBERON:0001377	98.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.08	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.05	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.88	gold quality
heart left ventricle	UBERON:0002084	97.47	gold quality
cardiac ventricle	UBERON:0002082	97.38	gold quality
tibialis anterior	UBERON:0001385	97.33	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.28	gold quality
deltoid	UBERON:0001476	97.27	gold quality
skeletal muscle tissue	UBERON:0001134	97.21	gold quality
right atrium auricular region	UBERON:0006631	96.66	gold quality
cardiac atrium	UBERON:0002081	96.59	gold quality
myocardium	UBERON:0002349	96.58	gold quality
skeletal muscle organ	UBERON:0014892	96.45	gold quality
body of tongue	UBERON:0011876	96.34	gold quality
gastrocnemius	UBERON:0001388	96.30	gold quality
muscle of leg	UBERON:0001383	96.09	gold quality
muscle tissue	UBERON:0002385	95.98	gold quality
heart	UBERON:0000948	95.20	gold quality
heart right ventricle	UBERON:0002080	94.58	gold quality
right adrenal gland cortex	UBERON:0035827	93.53	gold quality
left adrenal gland cortex	UBERON:0035825	93.16	gold quality
right adrenal gland	UBERON:0001233	93.03	gold quality
left adrenal gland	UBERON:0001234	92.87	gold quality
adrenal cortex	UBERON:0001235	92.24	gold quality
right lobe of liver	UBERON:0001114	91.99	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting COQ10A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-9898	99.00	67.89	500
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-331-3P	98.76	64.91	793
HSA-MIR-16-1-3P	98.70	69.23	1538
HSA-MIR-6529-3P	98.68	66.76	1020

Literature-anchored findings (GeneRIF, showing 15)

• Results show no significant differences in paraoxonase, oxLDL, or other oxidative stress markers after 2 months of acetylsalicylic acid treatment. (PMID:19891963)
• Rosuvastatin combined with regular exercise preserves coenzyme Q10 levels associated with a significant increase in high-density lipoprotein cholesterol in patients with coronary artery disease (PMID:21458815)
• plasma coenzyme Q10, asymmetric dimethylarginine and arterial stiffness in patients have a role in phenotypic or genotypic familial hypercholesterolemia with long-term statin therapy (PMID:21640350)
• coenzyme Q10, superoxide dismutase, and oxidative stress have roles in coronary artery disease, but the effect of malondialdehyde, catalase, and glutathione peroxidase is not significant (PMID:22645453)
• When a childhood mitochondrial disorder is suspected, an increased frequency of type 2C fibers in morphologically normal muscle suggests CoQ10 deficiency. (PMID:23494902)
• Serum coenzyme Q10 levels were inversely associated with risk of disabling dementia. (PMID:25463064)
• Effect of Coenzyme Q10 on Th1/Th2 Paradigm in Females with Idiopathic Recurrent Pregnancy Loss (PMID:25800618)
• Report age-related increase in oxidized proportion of muscle coenzyme Q10. (PMID:26107394)
• In conclusion, urinary CoQ analysis is a noninvasive, reliable, and reproducible method to determine urinary tract CoQ status. (PMID:26768296)
• It is concluded that CoQ10 redox state predicts the concentration of CRP. Persons at risk with lower ubiquinol status, higher BMI, and low grade inflammation may benefit from ubiquinol supplementation (PMID:26910885)
• We found that CoQ10 levels were significantly lower in patients with acute influenza infection and that these levels had significant although weak correlations with several inflammatory biomarkers. (PMID:30156030)
• Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer. (PMID:32102525)
• Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain. (PMID:32827528)
• Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging. (PMID:33878238)
• Levels of Coenzyme Q10 and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy. (PMID:35204836)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	coq10a	ENSDARG00000070393
mus_musculus	Coq10a	ENSMUSG00000039914
rattus_norvegicus	Coq10a	ENSRNOG00000029571
drosophila_melanogaster	CG9410	FBGN0033086
caenorhabditis_elegans		WBGENE00044648

Paralogs (1): COQ10B (ENSG00000115520)

Protein

Protein identifiers

Coenzyme Q-binding protein COQ10 homolog A, mitochondrial — Q96MF6 (reviewed: Q96MF6)

All UniProt accessions (3): Q96MF6, H0YHF1, H0YHW3

UniProt curated annotations — full annotation on UniProt →

Function. Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes.

Subunit / interactions. Interacts with coenzyme Q.

Subcellular location. Mitochondrion inner membrane.

Similarity. Belongs to the COQ10 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96MF6-1	1	yes
Q96MF6-2	2
Q96MF6-3	3

RefSeq proteins (2): NP_001092807, NP_653177* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005031	COQ10_START	Domain
IPR023393	START-like_dom_sf	Homologous_superfamily
IPR044996	COQ10-like	Family

Pfam: PF03364

UniProt features (9 total): sequence conflict 3, splice variant 2, sequence variant 2, transit peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MF6-F1	77.20	0.43

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-611105	Respiratory electron transport
R-HSA-9864848	Complex IV assembly

MSigDB gene sets: 141 (showing top): GCANCTGNY_MYOD_Q6, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, MYOD_01, ATF1_Q6, E4F1_Q6, GOCC_MITOCHONDRIAL_ENVELOPE, GCM_NUMA1, GCM_DDX11, GCM_NF2, E12_Q6, GOBP_CELLULAR_RESPIRATION, GOCC_ORGANELLE_INNER_MEMBRANE, E2A_Q2, GOMF_QUINONE_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN

GO Biological Process (1): cellular respiration (GO:0045333)

GO Molecular Function (1): ubiquinone binding (GO:0048039)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Aerobic respiration and respiratory electron transport	1
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
energy derivation by oxidation of organic compounds	1
quinone binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

464 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COQ10A	COQ4	Q9Y3A0	756
COQ10A	COQ3	Q9NZJ6	728
COQ10A	COQ6	Q9Y2Z9	706
COQ10A	COQ5	Q5HYK3	696
COQ10A	COQ8B	Q96D53	677
COQ10A	COQ8A	Q8NI60	676
COQ10A	COQ9	O75208	674
COQ10A	COQ7	Q99807	673
COQ10A	COQ2	Q96H96	665
COQ10A	PDSS1	Q5T2R2	636
COQ10A	PDSS2	Q86YH6	631
COQ10A	ADCK2	Q7Z695	448
COQ10A	FDX2	Q6P4F2	434
COQ10A	ADCK5	Q3MIX3	428
COQ10A	MPC2	O95563	410

IntAct

6 interactions, top by confidence:

A	B	Type	Score
Dlg4	COQ10A	psi-mi:“MI:0407”(direct interaction)	0.440
COQ10A	PMPCB	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): PMPCB (Affinity Capture-MS), PMPCA (Affinity Capture-MS), ECH1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8X8M4W6, O13476, O42895, O49354, O74831, O81000, O93995, P32317, P32785, P35200, P40098, P53219, Q03606, Q04223, Q06005, Q06683, Q08058, Q08BY0, Q09644, Q16KN5, Q1MTR1, Q29JQ0, Q3THF9, Q54G07, Q556V1, Q567E6, Q5BKM6, Q5I0I9, Q5RD79, Q5RH02, Q6DCC6, Q6DFA6, Q6GNP0, Q6GQ37, Q6PBN4, Q753X4, Q75AW4, Q75CC1, Q7L592, Q7PWB1

Diamond homologs: Q3THF9, Q567E6, Q5I0I9, Q5RD79, Q6DFA6, Q6GNP0, Q6PBN4, Q8MLL3, Q96MF6, Q9H8M1, Q9USM9, Q556V1, Q75CC1, A5F376, P0AGL5, P0AGL6, P0C6Q0, Q8FEY4, Q08058

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COQ10A	“up-regulates activity”	“coenzyme Q10”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

546 predictions. Top by Δscore:

Variant	Effect	Δscore
12:56267937:TGGG:T	donor_gain	1.0000
12:56267937:TGGGG:T	donor_loss	1.0000
12:56267938:GGG:G	donor_gain	1.0000
12:56267938:GGGG:G	donor_gain	1.0000
12:56267939:GG:G	donor_gain	1.0000
12:56267939:GGG:G	donor_gain	1.0000
12:56267939:GGGT:G	donor_loss	1.0000
12:56267940:GG:G	donor_gain	1.0000
12:56267941:G:GG	donor_gain	1.0000
12:56267941:GTA:G	donor_loss	1.0000
12:56269055:CTA:C	acceptor_loss	1.0000
12:56269058:GGT:G	acceptor_gain	1.0000
12:56269058:GGTA:G	acceptor_gain	1.0000
12:56269247:TCAAG:T	donor_loss	1.0000
12:56269248:CAAGG:C	donor_loss	1.0000
12:56269249:AAGGT:A	donor_loss	1.0000
12:56269252:G:A	donor_loss	1.0000
12:56269253:T:A	donor_loss	1.0000
12:56269456:CTAGG:C	acceptor_loss	1.0000
12:56269457:TAG:T	acceptor_loss	1.0000
12:56269458:A:AG	acceptor_gain	1.0000
12:56269459:G:GA	acceptor_loss	1.0000
12:56269459:G:GG	acceptor_gain	1.0000
12:56269459:GGCT:G	acceptor_gain	1.0000
12:56269571:G:GT	donor_gain	1.0000
12:56267253:GTGA:G	donor_loss	0.9900
12:56267261:G:T	donor_gain	0.9900
12:56267936:ATGGG:A	donor_gain	0.9900
12:56267942:T:G	donor_loss	0.9900
12:56269057:A:AG	acceptor_gain	0.9900

AlphaMissense

1594 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:56269105:T:C	Y110H	1.000
12:56269114:T:C	F113L	1.000
12:56269116:T:A	F113L	1.000
12:56269116:T:G	F113L	1.000
12:56269247:T:A	V157D	1.000
12:56269505:T:A	W174R	1.000
12:56269505:T:C	W174R	1.000
12:56269546:C:G	C187W	1.000
12:56269097:T:A	V107D	0.999
12:56269106:A:G	Y110C	0.999
12:56269115:T:C	F113S	0.999
12:56269115:T:G	F113C	0.999
12:56269126:T:C	C117R	0.999
12:56269127:G:A	C117Y	0.999
12:56269128:T:G	C117W	0.999
12:56269172:C:A	A132D	0.999
12:56269178:T:C	L134P	0.999
12:56269184:T:A	V136D	0.999
12:56269189:T:C	F138L	0.999
12:56269191:T:A	F138L	0.999
12:56269191:T:G	F138L	0.999
12:56269210:T:G	Y145D	0.999
12:56269216:T:C	S147P	0.999
12:56269223:T:A	V149D	0.999
12:56269460:G:C	A159P	0.999
12:56269484:T:A	F167I	0.999
12:56269484:T:C	F167L	0.999
12:56269485:T:C	F167S	0.999
12:56269486:C:A	F167L	0.999
12:56269486:C:G	F167L	0.999

dbSNP variants (sampled 300 via entrez): RS1000240518 (12:56270533 C>A,T), RS1000357140 (12:56270861 A>G), RS1000601372 (12:56266848 C>T), RS1001542559 (12:56271390 C>G), RS1001608063 (12:56270731 TGAGATTCCTCAG>T), RS1002154365 (12:56266414 C>A,T), RS1002528091 (12:56266177 G>A), RS1002600413 (12:56265685 A>G), RS1003158586 (12:56267144 T>C,G), RS1003609849 (12:56271438 C>T), RS1004434880 (12:56269981 T>A), RS1005948059 (12:56266525 G>A,C), RS1006194937 (12:56266062 T>A,C), RS1006215455 (12:56271398 G>C), RS1006226070 (12:56266360 G>T)

Disease associations

OMIM: gene MIM:620736 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_217	Refractive error	6.000000e-174

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Benzo(a)pyrene	decreases expression	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Valproic Acid	increases expression, affects expression	2
Cyclosporine	decreases expression	2
kojic acid	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone	decreases expression	1
Doxorubicin	decreases expression	1
Hydrogen Peroxide	increases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
N-Nitrosopyrrolidine	decreases expression	1
Smoke	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1U6	HAP1 COQ10A (-) 1	Cancer cell line	Male
CVCL_E1U7	HAP1 COQ10A (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.