COQ6

Summary

COQ6 (coenzyme Q6, monooxygenase, HGNC:20233) is a protein-coding gene on chromosome 14q24.3, encoding Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial (Q9Y2Z9). FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis.

The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 51004 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary coenzyme Q10 deficiency 8 (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 376 total — 15 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 33
• MANE Select transcript: NM_182476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20233
Approved symbol	COQ6
Name	coenzyme Q6, monooxygenase
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	CGI-10
Ensembl gene	ENSG00000119723
Ensembl biotype	protein_coding
OMIM	614647
Entrez	51004

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 12 protein_coding, 10 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000334571, ENST00000394026, ENST00000553448, ENST00000553462, ENST00000553922, ENST00000554193, ENST00000554217, ENST00000554320, ENST00000554341, ENST00000554920, ENST00000555196, ENST00000555392, ENST00000555511, ENST00000555552, ENST00000556300, ENST00000556588, ENST00000557205, ENST00000557584, ENST00000557780, ENST00000629426, ENST00000901627, ENST00000901628, ENST00000901629, ENST00000913024, ENST00000963229, ENST00000963230, ENST00000963231

RefSeq mRNA: 13 — MANE Select: NM_182476 NM_001425255, NM_001425256, NM_001425257, NM_001425258, NM_001425259, NM_001425260, NM_001425261, NM_001425262, NM_001425263, NM_001425264, NM_001425265, NM_182476, NM_182480

CCDS: CCDS9823, CCDS9824

Canonical transcript exons

ENST00000334571 — 12 exons

Exon	Start	End
ENSE00002456246	73962970	73963670
ENSE00002493189	73950302	73950495
ENSE00003501497	73959415	73959522
ENSE00003508234	73958147	73958277
ENSE00003521731	73959162	73959224
ENSE00003572919	73961173	73961375
ENSE00003590532	73955805	73955928
ENSE00003642290	73955451	73955509
ENSE00003660008	73961455	73961570
ENSE00003685913	73958971	73959078
ENSE00003690736	73961737	73961903
ENSE00003706467	73953435	73953569

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 95.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5229 / max 90.4846, expressed in 1795 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140564	10.4558	1790
140563	1.0137	661
140565	0.0534	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	95.42	gold quality
right adrenal gland	UBERON:0001233	95.25	gold quality
left adrenal gland	UBERON:0001234	94.46	gold quality
left adrenal gland cortex	UBERON:0035825	94.09	gold quality
apex of heart	UBERON:0002098	93.74	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.33	gold quality
adrenal gland	UBERON:0002369	92.03	gold quality
adrenal cortex	UBERON:0001235	91.91	gold quality
gastrocnemius	UBERON:0001388	91.74	gold quality
muscle of leg	UBERON:0001383	91.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.64	gold quality
right atrium auricular region	UBERON:0006631	91.14	gold quality
heart left ventricle	UBERON:0002084	90.85	gold quality
left testis	UBERON:0004533	90.82	gold quality
right testis	UBERON:0004534	90.74	gold quality
cardiac ventricle	UBERON:0002082	90.17	gold quality
adenohypophysis	UBERON:0002196	90.08	gold quality
right lobe of liver	UBERON:0001114	89.87	gold quality
adrenal tissue	UBERON:0018303	89.87	gold quality
right lobe of thyroid gland	UBERON:0001119	89.75	gold quality
metanephros cortex	UBERON:0010533	89.48	gold quality
left lobe of thyroid gland	UBERON:0001120	89.28	gold quality
right ovary	UBERON:0002118	89.04	gold quality
endocervix	UBERON:0000458	88.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.83	gold quality
granulocyte	CL:0000094	88.74	gold quality
triceps brachii	UBERON:0001509	88.66	gold quality
left ovary	UBERON:0002119	88.65	gold quality
cerebellar hemisphere	UBERON:0002245	88.61	gold quality
mucosa of transverse colon	UBERON:0004991	88.61	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.63
E-MTAB-6386	no	463.84

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

• COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness (PMID:21540551)
• Data indicate a heterozygous loss-of-function coenzyme Q10 (CoQ10) biosynthesis monooxygenase 6 gene (COQ6)missense mutation in familial schwannomatosis. (PMID:24763291)
• CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel homozygous missense change in COQ6 gene: p.Pro261Leu. (PMID:28044327)
• Primary CoQ10 deficiency due to COQ6 mutations should be considered in children presenting with both Steroid-Resistant Focal Segmental Glomerulosclerosis and sensorineural hearing loss. An early diagnosis of COQ6 mutations is essential because the condition is treatable when CoQ10 supplementation is started at the early stage. (PMID:28117207)
• Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. (PMID:30682496)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	coq6	ENSDARG00000060380
mus_musculus	Coq6	ENSMUSG00000021235
rattus_norvegicus	Coq6	ENSRNOG00000011164
drosophila_melanogaster	Coq6	FBGN0031713
caenorhabditis_elegans		WBGENE00000766

Paralogs (1): KMO (ENSG00000117009)

Protein

Protein identifiers

Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial — Q9Y2Z9 (reviewed: Q9Y2Z9)

Alternative names: 2-methoxy-6-polyprenolphenol 4-hydroxylase, Coenzyme Q10 monooxygenase 6

All UniProt accessions (7): A0A0D9SFJ1, Q9Y2Z9, G3V2L5, G3V3A1, G3V3L0, G3V434, G3V4A6

UniProt curated annotations — full annotation on UniProt →

Function. FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis. Required for the C5-ring hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 4-hydroxy-3-(all-trans-decaprenyl)benzoic acid to 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoic acid. Also acts downstream of COQ4, for the C1-hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 2-methoxy-6-(all-trans-decaprenyl)phenol to 2-methoxy-6-(all-trans-decaprenyl)benzene-1,4-diol. The electrons required for the hydroxylation reaction are funneled indirectly to COQ6 from NADPH via a ferredoxin/ferredoxin reductase system composed of FDX2 and FDXR.

Subunit / interactions. Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9. Interacts with COQ8B and COQ7.

Subcellular location. Mitochondrion inner membrane. Golgi apparatus. Cell projection.

Tissue specificity. Widely expressed.

Disease relevance. Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650] An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. The disease is caused by variants affecting the gene represented in this entry. Mutations in COQ6 may play a role in susceptibility to Schwannomatosis, a cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.

Pathway. Cofactor biosynthesis; ubiquinone biosynthesis.

Similarity. Belongs to the UbiH/COQ6 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y2Z9-1	1, a	yes
Q9Y2Z9-2	2, b
Q9Y2Z9-3	3, c

RefSeq proteins (13): NP_001412184, NP_001412185, NP_001412186, NP_001412187, NP_001412188, NP_001412189, NP_001412190, NP_001412191, NP_001412192, NP_001412193, NP_001412194, NP_872282, NP_872286 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000689	UbQ_mOase_COQ6	Family
IPR002938	FAD-bd	Domain
IPR010971	UbiH/COQ6	Family
IPR018168	Ubi_Hdrlase_CS	Conserved_site
IPR036188	FAD/NAD-bd_sf	Homologous_superfamily
IPR051205	UbiH/COQ6_monooxygenase	Family

Pfam: PF01494

Catalyzed reactions (Rhea), 2 shown:

• 4-hydroxy-3-(all-trans-decaprenyl)benzoate + 2 reduced [2Fe-2S]-[ferredoxin] + O2 + 2 H(+) = 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoate + 2 oxidized [2Fe-2S]-[ferredoxin] + H2O (RHEA:81259)
• 2-methoxy-6-(all-trans-decaprenyl)phenol + 2 reduced [2Fe-2S]-[ferredoxin] + O2 + 2 H(+) = 2-methoxy-6-(all-trans-decaprenyl)benzene-1,4-diol + 2 oxidized [2Fe-2S]-[ferredoxin] + H2O (RHEA:81295)

UniProt features (17 total): sequence variant 9, sequence conflict 3, splice variant 3, transit peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2Z9-F1	84.07	0.56

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2142789	Ubiquinol biosynthesis

MSigDB gene sets: 178 (showing top): GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_KETONE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, chr14q24, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_KETONE_BIOSYNTHETIC_PROCESS, GOBP_QUINONE_METABOLIC_PROCESS, PARENT_MTOR_SIGNALING_UP, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_EXTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE, GOCC_EXTRINSIC_COMPONENT_OF_MEMBRANE, GOMF_FAD_BINDING, REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS, GOMF_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN_REDUCED_FLAVIN_OR_FLAVOPROTEIN_AS_ONE_DONOR_AND_INCORPORATION_OF_ONE_ATOM_OF_OXYGEN

GO Biological Process (1): ubiquinone biosynthetic process (GO:0006744)

GO Molecular Function (10): oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712), FAD binding (GO:0071949), 4-hydroxy-3-all-trans-polyprenylbenzoate oxygenase activity (GO:0106364), 2-methoxy-6-polyprenolphenol 4-hydroxylase activity (GO:0120538), monooxygenase activity (GO:0004497), protein binding (GO:0005515), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), flavin adenine dinucleotide binding (GO:0050660)

GO Cellular Component (7): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), Golgi apparatus (GO:0005794), extrinsic component of mitochondrial inner membrane (GO:0031314), cell projection (GO:0042995), ubiquinone biosynthesis complex (GO:0110142), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of cofactors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
monooxygenase activity	2
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	2
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen	2
oxidoreductase activity	2
cytoplasm	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
ubiquinone metabolic process	1
quinone biosynthetic process	1
catalytic activity	1
flavin adenine dinucleotide binding	1
ubiquinone biosynthetic process	1
binding	1
nucleotide binding	1
anion binding	1
organelle inner membrane	1
mitochondrial membrane	1
endomembrane system	1
mitochondrial inner membrane	1
extrinsic component of organelle membrane	1
catalytic complex	1

Protein interactions and networks

STRING

2978 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COQ6	COQ3	Q9NZJ6	976
COQ6	COQ8B	Q96D53	967
COQ6	COQ8A	Q8NI60	964
COQ6	COQ7	Q99807	963
COQ6	COQ9	O75208	957
COQ6	COQ4	Q9Y3A0	954
COQ6	COQ5	Q5HYK3	939
COQ6	COQ2	Q96H96	919
COQ6	PDSS2	Q86YH6	913
COQ6	PDSS1	Q5T2R2	898
COQ6	COQ10A	Q96MF6	706
COQ6	FDXR	P22570	675
COQ6	COQ10B	Q9H8M1	665
COQ6	PLCE1	Q9P212	652
COQ6	ETFDH	Q16134	642

IntAct

57 interactions, top by confidence:

A	B	Type	Score
COQ8A	COQ9	psi-mi:“MI:0914”(association)	0.670
COQ9	COQ5	psi-mi:“MI:0915”(physical association)	0.590
COQ7	COQ9	psi-mi:“MI:0915”(physical association)	0.590
COQ5	COQ9	psi-mi:“MI:0914”(association)	0.590
COQ7	COQ6	psi-mi:“MI:0407”(direct interaction)	0.540
COQ6	COQ7	psi-mi:“MI:0407”(direct interaction)	0.540
TSPYL6	NME4	psi-mi:“MI:0914”(association)	0.530
COQ3	COQ6	psi-mi:“MI:0407”(direct interaction)	0.520
COQ4	COQ6	psi-mi:“MI:0407”(direct interaction)	0.520
COQ5	COQ6	psi-mi:“MI:0407”(direct interaction)	0.520
COQ6	COQ3	psi-mi:“MI:0407”(direct interaction)	0.520
COQ6	COQ5	psi-mi:“MI:0407”(direct interaction)	0.520
COQ6	COQ4	psi-mi:“MI:0407”(direct interaction)	0.520
COQ4	COQ5	psi-mi:“MI:0914”(association)	0.520
COQ3	COQ9	psi-mi:“MI:0914”(association)	0.500
FUS	DDX3X	psi-mi:“MI:0914”(association)	0.430
COQ6	PALM	psi-mi:“MI:0915”(physical association)	0.400
TMEM70	FDXR	psi-mi:“MI:0914”(association)	0.350
COQ5	ACOT7	psi-mi:“MI:0914”(association)	0.350
COQ6	TIMM44	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
COQ8B	COQ9	psi-mi:“MI:0914”(association)	0.350
COQ3	COQ8B	psi-mi:“MI:0914”(association)	0.350
COQ6	NRDC	psi-mi:“MI:0914”(association)	0.350
COQ6	NDUFAB1	psi-mi:“MI:0914”(association)	0.350

BioGRID (70): COQ3 (Co-fractionation), COQ6 (Proximity Label-MS), COQ6 (Reconstituted Complex), COQ5 (Reconstituted Complex), COQ6 (Reconstituted Complex), COQ6 (Affinity Capture-MS), COQ5 (Affinity Capture-MS), COQ6 (Affinity Capture-MS), NDUFAF5 (Affinity Capture-MS), COQ6 (Affinity Capture-MS), MLYCD (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), NRD1 (Affinity Capture-MS), COQ6 (Affinity Capture-MS), PMPCB (Affinity Capture-MS)

ESM2 similar proteins: A0A0U2JT80, A0A2I2F284, A1CT23, A2APY7, A3KP37, B2GV71, B5DEQ3, D4AAT7, F1RAX8, G3FLZ7, M1BYJ7, O01884, O15229, O22854, O46504, O60028, O74351, O88867, Q17CS8, Q1JPL4, Q1RLY6, Q2GQG8, Q2KIL4, Q337B8, Q4R510, Q4V7R3, Q5JNC0, Q66L51, Q68FU7, Q6DCP1, Q6DF46, Q6DIZ8, Q6Z836, Q7Q6A7, Q7TSQ8, Q8AWD2, Q8NCN5, Q8R1S0, Q8X0Z0, Q91WN4

Diamond homologs: A0A3G9K5C8, A0KE38, A0QB57, A0R1T4, A1TCX2, A1UJP4, A3Q339, A4JPY1, A4JQH4, A4T8B6, A6TAC9, A7ZI94, A7ZWZ4, B1LIN2, B1XBJ4, B5XQI9, B5Z2Q2, B6HZX3, B7L503, B7M2Z5, B7MPB4, B7N8Q4, B7NK08, F1RAX8, L8EUQ6, P0DUL5, P42534, P53318, P77397, Q13QI0, Q1B5E2, Q1BGA7, Q2KIL4, Q3Z585, Q476N1, Q58PK7, Q5YTV5, Q68FU7, Q742Z1, Q8NR94

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COQ6	“form complex”	“CoQ biosynthetic complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
ubiquinone biosynthetic process	8	170.2×	1e-14

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	15
Likely pathogenic	10
Uncertain significance	170
Likely benign	108
Benign	38

Top pathogenic / likely-pathogenic (25)

Variant ID	HGVS	Classification
1388038	NM_182476.3(COQ6):c.804del (p.Leu269fs)	Pathogenic
1458410	NM_182476.3(COQ6):c.879del (p.Asn294fs)	Pathogenic
1998964	NM_182476.3(COQ6):c.859del (p.Glu287fs)	Pathogenic
2020674	NM_182476.3(COQ6):c.100_101del (p.Thr34fs)	Pathogenic
2128621	NM_182476.3(COQ6):c.247del (p.Tyr83fs)	Pathogenic
2834878	NM_182476.3(COQ6):c.456del (p.Thr153fs)	Pathogenic
2977155	NM_182476.3(COQ6):c.248dup (p.Tyr83Ter)	Pathogenic
31595	NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp)	Pathogenic
31598	NM_182476.3(COQ6):c.484C>T (p.Arg162Ter)	Pathogenic
375341	NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)	Pathogenic
375344	NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter)	Pathogenic
434818	NM_182476.3(COQ6):c.1069del (p.Val357fs)	Pathogenic
807582	NM_182476.3(COQ6):c.782C>T (p.Pro261Leu)	Pathogenic
807584	NM_182476.3(COQ6):c.1237G>T (p.Glu413Ter)	Pathogenic
992499	NM_182476.3(COQ6):c.189_191del (p.Lys64del)	Pathogenic
1516201	NM_182476.3(COQ6):c.298+2T>C	Likely pathogenic
2989109	NM_182476.3(COQ6):c.720+1G>T	Likely pathogenic
3576687	NM_182476.3(COQ6):c.22_44dup (p.Pro16fs)	Likely pathogenic
3576700	NM_182476.3(COQ6):c.352del (p.Met118fs)	Likely pathogenic
3576712	NM_182476.3(COQ6):c.613-8_614del	Likely pathogenic
3576721	NM_182476.3(COQ6):c.988C>T (p.Gln330Ter)	Likely pathogenic
3767190	NM_182476.3(COQ6):c.10C>T (p.Arg4Trp)	Likely pathogenic
4277511	NM_182476.3(COQ6):c.974del (p.Lys325fs)	Likely pathogenic
4845886	NM_182476.3(COQ6):c.685C>T (p.Gln229Ter)	Likely pathogenic
807583	NM_182476.3(COQ6):c.1079G>T (p.Arg360Leu)	Likely pathogenic

SpliceAI

2113 predictions. Top by Δscore:

Variant	Effect	Δscore
14:73953432:AAG:A	acceptor_gain	1.0000
14:73953433:A:G	acceptor_gain	1.0000
14:73953565:CAGTA:C	donor_gain	1.0000
14:73953567:GTA:G	donor_gain	1.0000
14:73953568:TA:T	donor_gain	1.0000
14:73953570:G:GG	donor_gain	1.0000
14:73955801:CCA:C	acceptor_loss	1.0000
14:73955802:CA:C	acceptor_loss	1.0000
14:73955804:GGTGT:G	acceptor_gain	1.0000
14:73955963:G:GT	donor_gain	1.0000
14:73955963:G:T	donor_gain	1.0000
14:73961154:T:A	acceptor_gain	1.0000
14:73961156:T:TA	acceptor_gain	1.0000
14:73961157:G:A	acceptor_gain	1.0000
14:73961160:T:TA	acceptor_gain	1.0000
14:73961171:AGT:A	acceptor_gain	1.0000
14:73961172:G:GA	acceptor_gain	1.0000
14:73961172:GTG:G	acceptor_gain	1.0000
14:73961453:A:AG	acceptor_gain	1.0000
14:73961454:G:GG	acceptor_gain	1.0000
14:73961564:GACT:G	donor_gain	1.0000
14:73961568:TAGGT:T	donor_loss	1.0000
14:73961569:AGGTA:A	donor_loss	1.0000
14:73961572:T:G	donor_loss	1.0000
14:73961822:GCTC:G	donor_gain	1.0000
14:73961861:G:GT	donor_gain	1.0000
14:73949967:CCTCA:C	donor_loss	0.9900
14:73949968:CTCAC:C	donor_loss	0.9900
14:73949969:TCACC:T	donor_loss	0.9900
14:73949970:CAC:C	donor_loss	0.9900

AlphaMissense

3061 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:73959192:T:C	F251L	0.999
14:73959194:T:A	F251L	0.999
14:73959194:T:G	F251L	0.999
14:73959053:T:A	V232D	0.998
14:73959058:G:C	A234P	0.998
14:73959181:C:A	A247D	0.998
14:73959187:A:C	Q249P	0.998
14:73959188:G:C	Q249H	0.998
14:73959188:G:T	Q249H	0.998
14:73959193:T:C	F251S	0.998
14:73959430:A:C	S267R	0.998
14:73959432:T:A	S267R	0.998
14:73959432:T:G	S267R	0.998
14:73959442:T:A	W271R	0.998
14:73959442:T:C	W271R	0.998
14:73961487:G:A	G376E	0.998
14:73961860:G:T	R445M	0.998
14:73959183:T:A	W248R	0.997
14:73959183:T:C	W248R	0.997
14:73959214:C:A	A258D	0.997
14:73959220:T:C	L260P	0.997
14:73961486:G:A	G376R	0.997
14:73961486:G:C	G376R	0.997
14:73961500:C:A	N380K	0.997
14:73961500:C:G	N380K	0.997
14:73961860:G:C	R445T	0.997
14:73961869:G:A	G448D	0.997
14:73961903:A:C	K459N	0.997
14:73961903:A:T	K459N	0.997
14:73958972:T:A	I205K	0.996

dbSNP variants (sampled 300 via entrez): RS1000121827 (14:73954151 G>C), RS1000388352 (14:73955489 A>G), RS1000408879 (14:73954400 G>A), RS1000426250 (14:73949306 T>C), RS1000687797 (14:73954224 C>T), RS1000904500 (14:73960001 A>C,G), RS1000926239 (14:73953892 G>A), RS1001732395 (14:73949190 C>A), RS1001921348 (14:73961750 C>T), RS1001964971 (14:73956848 T>C), RS1002079658 (14:73956439 A>G), RS1002283651 (14:73950581 C>G,T), RS1002407914 (14:73960405 T>C), RS1002471861 (14:73961201 T>A), RS1002672249 (14:73948221 G>A,C)

Disease associations

OMIM: gene MIM:614647 | disease phenotypes: MIM:614650

GenCC curated gene-disease

Disease	Classification	Inheritance
primary coenzyme Q10 deficiency 8	Definitive	Autosomal recessive
familial steroid-resistant nephrotic syndrome with sensorineural deafness	Strong	Autosomal recessive
SMARCB1-related schwannomatosis	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
primary coenzyme Q10 deficiency 8	Definitive	AR

Mondo (3): familial steroid-resistant nephrotic syndrome with sensorineural deafness (MONDO:0013836), SMARCB1-related schwannomatosis (MONDO:0024517), primary coenzyme Q10 deficiency 8 (MONDO:0014754)

Orphanet (1): Familial steroid-resistant nephrotic syndrome with sensorineural deafness (Orphanet:280406)

HPO phenotypes

33 total (30 of 33 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000131	Uterine leiomyoma
HP:0000360	Tinnitus
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000518	Cataract
HP:0000787	Nephrolithiasis
HP:0001250	Seizure
HP:0001324	Muscle weakness
HP:0001621	Weak voice
HP:0001967	Diffuse mesangial sclerosis
HP:0002380	Fasciculations
HP:0002650	Scoliosis
HP:0002664	Neoplasm
HP:0002858	Meningioma
HP:0003401	Paresthesia
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003678	Rapidly progressive
HP:0003774	Stage 5 chronic kidney disease
HP:0009589	Bilateral vestibular schwannoma
HP:0009593	Peripheral schwannoma
HP:0010302	Spinal cord tumor
HP:0011463	Childhood onset
HP:0011750	Neoplasm of the anterior pituitary
HP:0012032	Lipoma
HP:0012531	Pain
HP:0012588	Steroid-resistant nephrotic syndrome

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	affects cotreatment, increases abundance, decreases reaction, increases expression	2
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression, increases expression	1
epigallocatechin gallate	increases expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
jinfukang	increases expression, affects cotreatment	1
Acetaminophen	decreases expression	1
Vehicle Emissions	increases expression, decreases reaction	1
Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Hydrogen Peroxide	increases expression	1
Methyl Methanesulfonate	increases expression	1
Phenobarbital	affects expression	1
Polycyclic Aromatic Hydrocarbons	increases expression, affects cotreatment, increases abundance	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Butanol	affects cotreatment, increases abundance, increases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0AS	Ubigene HeLa COQ6 KO	Cancer cell line	Female
CVCL_E1UC	HAP1 COQ6 (-) 1	Cancer cell line	Male
CVCL_E1UD	HAP1 COQ6 (-) 2	Cancer cell line	Male
CVCL_E1UE	HAP1 COQ6 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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