COQ10B

Summary

COQ10B (coenzyme Q10B, HGNC:25819) is a protein-coding gene on chromosome 2q33.1, encoding Coenzyme Q-binding protein COQ10 homolog B, mitochondrial (Q9H8M1). 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 80219 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 32 total — 1 pathogenic
• MANE Select transcript: NM_025147

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25819
Approved symbol	COQ10B
Name	coenzyme Q10B
Location	2q33.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13448
Ensembl gene	ENSG00000115520
Ensembl biotype	protein_coding
OMIM	620737
Entrez	80219

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000263960, ENST00000409010, ENST00000409398, ENST00000488445, ENST00000885461, ENST00000960457

RefSeq mRNA: 4 — MANE Select: NM_025147 NM_001320818, NM_001320819, NM_001320820, NM_025147

CCDS: CCDS2319, CCDS82551, CCDS82552

Canonical transcript exons

ENST00000263960 — 5 exons

Exon	Start	End
ENSE00000803161	197462539	197462731
ENSE00000803163	197470070	197470171
ENSE00001157109	197473757	197475310
ENSE00001157118	197453552	197453664
ENSE00003563338	197459932	197460081

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 95.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.0584 / max 610.5973, expressed in 1817 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24478	33.9846	1817
24477	1.0920	716
24479	0.5343	166
24476	0.4474	208

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.42	gold quality
periodontal ligament	UBERON:0008266	94.25	gold quality
adrenal tissue	UBERON:0018303	93.01	gold quality
cartilage tissue	UBERON:0002418	92.97	gold quality
choroid plexus epithelium	UBERON:0003911	92.76	gold quality
vena cava	UBERON:0004087	92.49	gold quality
right adrenal gland cortex	UBERON:0035827	92.46	gold quality
secondary oocyte	CL:0000655	92.16	gold quality
right adrenal gland	UBERON:0001233	91.87	gold quality
calcaneal tendon	UBERON:0003701	91.59	gold quality
islet of Langerhans	UBERON:0000006	91.51	gold quality
left adrenal gland	UBERON:0001234	91.35	gold quality
adrenal gland	UBERON:0002369	91.31	gold quality
adrenal cortex	UBERON:0001235	91.11	gold quality
left adrenal gland cortex	UBERON:0035825	91.04	gold quality
gall bladder	UBERON:0002110	90.37	gold quality
rectum	UBERON:0001052	89.22	gold quality
tibial artery	UBERON:0007610	89.20	gold quality
popliteal artery	UBERON:0002250	89.19	gold quality
bone marrow	UBERON:0002371	89.18	gold quality
aorta	UBERON:0000947	89.08	gold quality
nephron tubule	UBERON:0001231	89.08	gold quality
thoracic aorta	UBERON:0001515	89.03	gold quality
ascending aorta	UBERON:0001496	88.99	gold quality
leukocyte	CL:0000738	88.63	gold quality
right coronary artery	UBERON:0001625	88.59	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.56	gold quality
monocyte	CL:0000576	88.48	gold quality
mononuclear cell	CL:0000842	88.48	gold quality
stromal cell of endometrium	CL:0002255	88.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting COQ10B, 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-3613-3P	100.00	76.36	7965
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-570-3P	99.96	72.41	4910
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-657	99.48	66.02	848
HSA-MIR-12132	99.47	68.90	1341

Literature-anchored findings (GeneRIF, showing 3)

• 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)
• 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	coq10b	ENSDARG00000056141
mus_musculus	Coq10b	ENSMUSG00000025981
rattus_norvegicus	Coq10b	ENSRNOG00000014456
drosophila_melanogaster	CG9410	FBGN0033086
caenorhabditis_elegans		WBGENE00044648

Paralogs (1): COQ10A (ENSG00000135469)

Protein

Protein identifiers

Coenzyme Q-binding protein COQ10 homolog B, mitochondrial — Q9H8M1 (reviewed: Q9H8M1)

All UniProt accessions (3): B8ZZV9, B8ZZX2, Q9H8M1

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 (2)

UniProt ID	Names	Canonical?
Q9H8M1-1	1	yes
Q9H8M1-2	2

RefSeq proteins (4): NP_001307747, NP_001307748, NP_001307749, NP_079423* (*=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 (4 total): transit peptide 1, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H8M1-F1	79.40	0.50

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: 167 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOCC_MITOCHONDRIAL_ENVELOPE, TCCAGAG_MIR518C, NRF2_01, CUI_TCF21_TARGETS_2_DN, GOBP_CELLULAR_RESPIRATION, MYB_Q5_01, GOCC_ORGANELLE_INNER_MEMBRANE, MARSON_BOUND_BY_FOXP3_STIMULATED, GOMF_QUINONE_BINDING, REN_ALVEOLAR_RHABDOMYOSARCOMA_DN, GOCC_ORGANELLE_ENVELOPE, KARLSSON_TGFB1_TARGETS_UP

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

732 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COQ10B	COQ4	Q9Y3A0	715
COQ10B	COQ3	Q9NZJ6	679
COQ10B	COQ9	O75208	673
COQ10B	COQ2	Q96H96	672
COQ10B	COQ6	Q9Y2Z9	665
COQ10B	COQ8A	Q8NI60	657
COQ10B	COQ8B	Q96D53	657
COQ10B	COQ5	Q5HYK3	653
COQ10B	PDSS1	Q5T2R2	626
COQ10B	COQ7	Q99807	617
COQ10B	PDSS2	Q86YH6	571
COQ10B	TANC1	Q9C0D5	453
COQ10B	ADCK2	Q7Z695	428
COQ10B	FDX2	Q6P4F2	417
COQ10B	ADCK5	Q3MIX3	411

IntAct

8 interactions, top by confidence:

A	B	Type	Score
DUX4L9	COQ10B	psi-mi:“MI:0915”(physical association)	0.370
COQ10B	UQCRH	psi-mi:“MI:0914”(association)	0.350
COQ10B	ALDH1L1	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (19): CLPB (Affinity Capture-MS), CYCS (Affinity Capture-MS), TIMM8B (Affinity Capture-MS), BCKDHA (Affinity Capture-MS), ECH1 (Affinity Capture-MS), PITRM1 (Affinity Capture-MS), POLDIP2 (Affinity Capture-MS), STOML2 (Affinity Capture-MS), CHCHD2 (Affinity Capture-MS), C1QBP (Affinity Capture-MS), COQ10B (Affinity Capture-MS), COQ10B (Affinity Capture-RNA), COQ10B (Affinity Capture-MS), COQ10B (Affinity Capture-MS), COQ10B (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, Q556V1, Q9USM9, Q75CC1, A5F376, P0AGL5, P0AGL6, P0C6Q0, Q8FEY4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COQ10B	“up-regulates activity”	“coenzyme Q10”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	22
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1526940	GRCh37/hg19 2q33.1(chr2:197586481-200793870)	Pathogenic

SpliceAI

567 predictions. Top by Δscore:

Variant	Effect	Δscore
2:197460052:G:GT	donor_gain	1.0000
2:197460053:A:T	donor_gain	1.0000
2:197462535:A:AG	acceptor_gain	1.0000
2:197462536:A:G	acceptor_gain	1.0000
2:197462537:A:G	acceptor_gain	1.0000
2:197462538:G:GG	acceptor_gain	1.0000
2:197462538:GAT:G	acceptor_gain	1.0000
2:197462538:GATA:G	acceptor_gain	1.0000
2:197462538:GATAT:G	acceptor_gain	1.0000
2:197462727:TAAAG:T	donor_loss	1.0000
2:197462728:AAAG:A	donor_loss	1.0000
2:197462729:AAG:A	donor_gain	1.0000
2:197462729:AAGGT:A	donor_loss	1.0000
2:197462730:AG:A	donor_loss	1.0000
2:197462731:GGTAA:G	donor_loss	1.0000
2:197462732:GTA:G	donor_loss	1.0000
2:197462733:T:G	donor_loss	1.0000
2:197470068:A:AG	acceptor_gain	1.0000
2:197470069:G:GG	acceptor_gain	1.0000
2:197470069:GGC:G	acceptor_gain	1.0000
2:197470171:AGT:A	donor_loss	1.0000
2:197470172:G:A	donor_loss	1.0000
2:197470172:G:GG	donor_gain	1.0000
2:197470174:AAGTC:A	donor_loss	1.0000
2:197453662:C:T	donor_gain	0.9900
2:197453662:CAG:C	donor_loss	0.9900
2:197453663:AGGTA:A	donor_loss	0.9900
2:197453664:GG:G	donor_loss	0.9900
2:197453666:T:G	donor_loss	0.9900
2:197459999:GAGA:G	donor_gain	0.9900

AlphaMissense

1515 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:197462598:T:A	V105D	0.999
2:197470115:T:A	W165R	0.999
2:197470115:T:C	W165R	0.999
2:197462594:T:C	F104L	0.998
2:197462596:T:A	F104L	0.998
2:197462596:T:G	F104L	0.998
2:197470156:T:G	C178W	0.998
2:197473763:T:C	F186L	0.998
2:197473765:T:A	F186L	0.998
2:197473765:T:G	F186L	0.998
2:197473769:T:C	F188L	0.998
2:197473771:T:A	F188L	0.998
2:197473771:T:G	F188L	0.998
2:197462603:T:A	W107R	0.997
2:197462603:T:C	W107R	0.997
2:197462667:G:A	G128E	0.997
2:197462669:T:C	F129L	0.997
2:197462671:T:A	F129L	0.997
2:197462671:T:G	F129L	0.997
2:197462696:T:C	S138P	0.997
2:197470119:G:C	R166P	0.997
2:197470122:T:C	F167S	0.997
2:197473770:T:C	F188S	0.997
2:197473841:T:C	F212L	0.997
2:197473843:T:A	F212L	0.997
2:197473843:T:G	F212L	0.997
2:197462608:C:G	C108W	0.996
2:197462670:T:C	F129S	0.996
2:197470070:G:C	A150P	0.996
2:197470095:T:C	F158S	0.996

dbSNP variants (sampled 300 via entrez): RS1000169732 (2:197464876 T>C), RS1000222941 (2:197461161 G>C), RS1000455801 (2:197468162 CGG>C), RS1000493945 (2:197463417 G>T), RS1000831245 (2:197467881 CAG>C), RS1000957205 (2:197473772 C>A,T), RS1001023262 (2:197470246 C>G), RS1001381599 (2:197452194 T>C), RS1001442746 (2:197457912 G>A), RS1001515956 (2:197456926 C>T), RS1001747913 (2:197451719 T>C), RS1001796399 (2:197469373 A>G), RS1002046698 (2:197469423 C>T), RS1002074569 (2:197469740 T>C), RS1002425012 (2:197462856 A>G)

Disease associations

OMIM: gene MIM:620737 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST002539_41	Schizophrenia	2.000000e-11
GCST004521_180	Autism spectrum disorder or schizophrenia	3.000000e-11
GCST004521_275	Autism spectrum disorder or schizophrenia	7.000000e-09
GCST006803_21	Schizophrenia	4.000000e-13
GCST007565_75	Morning person	3.000000e-23
GCST010698_25	Subcortical volume (min-P)	2.000000e-08
GCST010699_24	Brain morphology (min-P)	1.000000e-09
GCST010700_25	Cortical thickness (MOSTest)	2.000000e-10
GCST010701_25	Cortical surface area (MOSTest)	2.000000e-37
GCST010702_65	Subcortical volume (MOSTest)	1.000000e-11
GCST010703_197	Brain morphology (MOSTest)	1.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Leflunomide	increases expression	2
Acetaminophen	affects expression, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
myxothiazol	decreases expression, increases abundance, increases reaction	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
NSC 689534	increases expression, affects binding	1
PCI 5002	affects cotreatment, increases expression	1
Acetylcysteine	decreases expression, increases abundance, increases reaction	1
Arsenic	increases abundance, increases expression	1
Cadmium	increases abundance, increases reaction, decreases expression	1
Copper	affects binding, increases expression	1
Diethylstilbestrol	increases expression	1
Phenobarbital	affects expression	1
Smoke	decreases expression	1
Testosterone	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1U8	HAP1 COQ10B (-) 1	Cancer cell line	Male
CVCL_E1U9	HAP1 COQ10B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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