COQ5

Summary

COQ5 (coenzyme Q5, methyltransferase, HGNC:28722) is a protein-coding gene on chromosome 12q24.31, encoding 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial (Q5HYK3). Methyltransferase required for the conversion of 2-decaprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-decaprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2). It is a selective cancer dependency (DepMap: 22.4% of cell lines).

Enables 2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. Part of ubiquinone biosynthesis complex. Implicated in primary coenzyme Q10 deficiency 9.

Source: NCBI Gene 84274 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Moderate, ClinGen) — +2 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 72 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 19
• Cancer dependency (DepMap): dependent in 22.4% of screened cell lines
• MANE Select transcript: NM_032314

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28722
Approved symbol	COQ5
Name	coenzyme Q5, methyltransferase
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	MGC4767
Ensembl gene	ENSG00000110871
Ensembl biotype	protein_coding
OMIM	616359
Entrez	84274

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 retained_intron

ENST00000288532, ENST00000445328, ENST00000546838, ENST00000547448, ENST00000547736, ENST00000547943, ENST00000551769, ENST00000552443, ENST00000884382, ENST00000884383, ENST00000884384

RefSeq mRNA: 1 — MANE Select: NM_032314 NM_032314

CCDS: CCDS31912

Canonical transcript exons

ENST00000288532 — 7 exons

Exon	Start	End
ENSE00001128324	120503970	120504081
ENSE00001273421	120504895	120504983
ENSE00001273428	120510017	120510123
ENSE00001303190	120503279	120503885
ENSE00001390126	120516567	120516788
ENSE00002396553	120528940	120529158
ENSE00003788213	120522214	120522363

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 95.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.2426 / max 331.8308, expressed in 1823 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133666	34.2426	1823

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	95.01	gold quality
muscle of leg	UBERON:0001383	94.14	gold quality
skeletal muscle organ	UBERON:0014892	94.11	gold quality
gastrocnemius	UBERON:0001388	94.01	gold quality
skeletal muscle tissue	UBERON:0001134	93.47	gold quality
apex of heart	UBERON:0002098	93.10	gold quality
right lobe of liver	UBERON:0001114	92.72	gold quality
mucosa of transverse colon	UBERON:0004991	92.65	gold quality
heart left ventricle	UBERON:0002084	92.59	gold quality
adrenal tissue	UBERON:0018303	92.43	gold quality
right adrenal gland cortex	UBERON:0035827	91.81	gold quality
muscle tissue	UBERON:0002385	91.74	gold quality
right adrenal gland	UBERON:0001233	91.70	gold quality
liver	UBERON:0002107	91.64	gold quality
islet of Langerhans	UBERON:0000006	91.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.40	gold quality
heart	UBERON:0000948	91.12	gold quality
left adrenal gland	UBERON:0001234	91.01	gold quality
left adrenal gland cortex	UBERON:0035825	90.72	gold quality
placenta	UBERON:0001987	90.70	gold quality
adult mammalian kidney	UBERON:0000082	90.66	gold quality
ventricular zone	UBERON:0003053	90.51	gold quality
right atrium auricular region	UBERON:0006631	90.46	gold quality
adrenal gland	UBERON:0002369	90.43	gold quality
embryo	UBERON:0000922	90.22	gold quality
ganglionic eminence	UBERON:0004023	90.22	gold quality
rectum	UBERON:0001052	90.14	gold quality
kidney	UBERON:0002113	89.98	gold quality
duodenum	UBERON:0002114	89.68	gold quality
cortex of kidney	UBERON:0001225	89.63	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.06
E-ENAD-17	no	286.34
E-MTAB-6142	no	264.77

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YY1

miRNA regulators (miRDB)

33 targeting COQ5, 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-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-3929	98.32	65.58	1026
HSA-MIR-1226-3P	97.51	66.32	1063
HSA-MIR-3201	97.16	65.42	1044
HSA-MIR-4714-5P	97.04	67.76	955
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-873-3P	96.84	66.09	786
HSA-MIR-4436B-5P	96.71	68.37	1346

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 22.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• The results that knockdown of the COQ5 gene reduced CoQ10 levels further indicated the critical role of COQ5 in the biosynthesis of CoQ10. (PMID:23354120)
• The expression of COQ5 was increased. (PMID:27155576)
• This is the first report of primary CoQ10 deficiency caused by loss of function of COQ5, with delineation of the clinical, laboratory, histological, and molecular features, and insights regarding targeted treatment with CoQ10 supplementation. (PMID:29044765)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	coq5	ENSDARG00000035618
mus_musculus	Coq5	ENSMUSG00000041733
rattus_norvegicus	Coq5	ENSRNOG00000001171
drosophila_melanogaster	Coq5	FBGN0030460
caenorhabditis_elegans		WBGENE00000765

Paralogs (4): METTL27 (ENSG00000165171), TMT1B (ENSG00000170439), TMT1A (ENSG00000185432), AS3MT (ENSG00000214435)

Protein

Protein identifiers

2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial — Q5HYK3 (reviewed: Q5HYK3)

Alternative names: Ubiquinone biosynthesis methyltransferase COQ5

All UniProt accessions (6): Q5HYK3, B4DP72, F8VP53, F8VVD5, F8VVW7, F8VVX6

UniProt curated annotations — full annotation on UniProt →

Function. Methyltransferase required for the conversion of 2-decaprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-decaprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2).

Subunit / interactions. Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9. Interacts with PYURF; the interaction is direct, stabilizes COQ5 protein and associates PYURF with COQ enzyme complex.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Widely expressed, with highest levels in liver, lung, placenta and skeletal muscle.

Disease relevance. Coenzyme Q10 deficiency, primary, 9 (COQ10D9) [MIM:619028] A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. COQ10D9 patients show cerebellar ataxia with cerebellar atrophy. Additional features include generalized tonic-clonic seizures, and cognitive disability. Disease onset is in the first decade of life. The disease may be caused by variants affecting the gene represented in this entry.

Pathway. Cofactor biosynthesis; ubiquinone biosynthesis.

Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. MenG/UbiE family.

RefSeq proteins (1): NP_115690* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004033	UbiE/COQ5_MeTrFase	Family
IPR023576	UbiE/COQ5_MeTrFase_CS	Conserved_site
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily

Pfam: PF01209

Enzyme classification (BRENDA):

• EC 2.1.1.201 — 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase (BRENDA: 8 organisms, 7 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• 2-methoxy-6-(all-trans-decaprenyl)benzene-1,4-diol + S-adenosyl-L-methionine = 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzene-1,4-diol + S-adenosyl-L-homocysteine + H(+) (RHEA:44764)

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5HYK3-F1	82.86	0.49

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 117; 171; 199–200

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2142789	Ubiquinol biosynthesis

MSigDB gene sets: 156 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_KETONE_METABOLIC_PROCESS, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOCC_MITOCHONDRIAL_ENVELOPE, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_KETONE_BIOSYNTHETIC_PROCESS, HAN_SATB1_TARGETS_DN, GOBP_METHYLATION, BURTON_ADIPOGENESIS_6, GOBP_QUINONE_METABOLIC_PROCESS, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE

GO Biological Process (3): ubiquinone biosynthetic process (GO:0006744), methylation (GO:0032259), ketone biosynthetic process (GO:0042181)

GO Molecular Function (4): 2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity (GO:0008425), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (7): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), extrinsic component of mitochondrial inner membrane (GO:0031314), protein-containing complex (GO:0032991), 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
ubiquinone metabolic process	1
quinone biosynthetic process	1
metabolic process	1
ketone metabolic process	1
small molecule biosynthetic process	1
ubiquinone biosynthetic process	1
C-methyltransferase activity	1
binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
intracellular organelle lumen	1
mitochondrial inner membrane	1
extrinsic component of organelle membrane	1
cellular_component	1
catalytic complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1470 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COQ5	COQ3	Q9NZJ6	982
COQ5	COQ9	O75208	976
COQ5	COQ7	Q99807	974
COQ5	COQ4	Q9Y3A0	959
COQ5	COQ6	Q9Y2Z9	939
COQ5	COQ8A	Q8NI60	886
COQ5	PDSS1	Q5T2R2	874
COQ5	COQ8B	Q96D53	862
COQ5	COQ2	Q96H96	862
COQ5	PDSS2	Q86YH6	811
COQ5	HIGD1C	A8MV81	785
COQ5	COQ10A	Q96MF6	696
COQ5	NDUFA9	Q16795	659
COQ5	COQ10B	Q9H8M1	653
COQ5	ADCK2	Q7Z695	593

IntAct

95 interactions, top by confidence:

A	B	Type	Score
COQ8A	COQ9	psi-mi:“MI:0914”(association)	0.670
VSIG1	TTI1	psi-mi:“MI:0914”(association)	0.640
FAM174A	GAK	psi-mi:“MI:0914”(association)	0.640
COQ5	COQ7	psi-mi:“MI:0407”(direct interaction)	0.590
COQ5	COQ9	psi-mi:“MI:0407”(direct interaction)	0.590
COQ7	COQ5	psi-mi:“MI:0407”(direct interaction)	0.590
COQ9	COQ5	psi-mi:“MI:0407”(direct interaction)	0.590
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
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
DPEP1	ILVBL	psi-mi:“MI:0914”(association)	0.530
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
COQ3	COQ5	psi-mi:“MI:0407”(direct interaction)	0.520
COQ4	COQ5	psi-mi:“MI:0407”(direct interaction)	0.520
COQ5	COQ4	psi-mi:“MI:0407”(direct interaction)	0.520

BioGRID (121): COQ5 (Affinity Capture-Western), COQ4 (Affinity Capture-Western), COQ5 (Affinity Capture-RNA), COQ5 (Affinity Capture-MS), COQ5 (Affinity Capture-MS), COQ5 (Co-fractionation), COQ5 (Reconstituted Complex), COQ9 (Reconstituted Complex), COQ5 (Reconstituted Complex), COQ5 (Affinity Capture-MS), COQ3 (Affinity Capture-MS), COQ5 (Affinity Capture-MS), COQ5 (Affinity Capture-MS), COQ6 (Affinity Capture-MS), COQ5 (Affinity Capture-MS)

ESM2 similar proteins: A0JPH3, A5PMF6, B4G0F3, B5DEQ3, C6JS30, D4A1F2, E0CTF3, E9Q4Z2, F1MF74, O00763, O14832, O15229, O18778, O35386, O62515, O88867, O94851, P0CF52, P24802, P57093, Q0IIB1, Q0P5A2, Q0VC74, Q10E49, Q1RLY6, Q4G064, Q4V7R3, Q5BJP9, Q5HYK3, Q5PQ59, Q5RBK6, Q5RBS1, Q5SRE7, Q5TEU4, Q5U3U0, Q5U483, Q65WW7, Q66L51, Q6DIZ8, Q6IQE9

Diamond homologs: A1AI22, A1BAN1, A1JIF2, A1UUE1, A3PFL1, A4WVR7, A4YJH0, A5E888, A5FZ96, A6TGL3, A6UFF7, A6WYI0, A7ZU40, A8A6U0, A8ACY2, A8LNK7, A9ILA7, A9MCZ2, A9MY97, A9WW74, B0T7D0, B1IW72, B1LM21, B1XAJ7, B2SC50, B3PZ92, B3Q619, B4RC42, B4SZ73, B4TBR3, B4TNX9, B5BIX9, B5EZU8, B5FNW6, B5QW73, B5RFM8, B5XYI1, B5YY82, B5ZYK8, B6I4H5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COQ5	“form complex”	“CoQ biosynthetic complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitochondrial protein import	5	14.7×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
ubiquinone biosynthetic process	7	89.8×	4e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	48
Likely benign	11
Benign	4

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
978826	NC_000012.12:g.120502295_120511884dup	Pathogenic
4292470	NM_032314.4(COQ5):c.133C>T (p.Gln45Ter)	Likely pathogenic

SpliceAI

1337 predictions. Top by Δscore:

Variant	Effect	Δscore
12:120503964:TCATA:T	donor_loss	1.0000
12:120503965:CATA:C	donor_loss	1.0000
12:120503966:ATAC:A	donor_loss	1.0000
12:120503967:TA:T	donor_loss	1.0000
12:120503968:ACC:A	donor_loss	1.0000
12:120503969:C:T	donor_loss	1.0000
12:120503993:TCTC:T	donor_gain	1.0000
12:120504077:AAAGC:A	acceptor_gain	1.0000
12:120504078:AAGC:A	acceptor_gain	1.0000
12:120504080:GC:G	acceptor_gain	1.0000
12:120504081:CC:C	acceptor_gain	1.0000
12:120504082:C:CC	acceptor_gain	1.0000
12:120510011:TCATA:T	donor_loss	1.0000
12:120510012:CATA:C	donor_loss	1.0000
12:120510013:ATAC:A	donor_loss	1.0000
12:120510014:TAC:T	donor_loss	1.0000
12:120510015:ACC:A	donor_loss	1.0000
12:120510016:C:A	donor_loss	1.0000
12:120516538:C:A	donor_gain	1.0000
12:120522359:ATAGA:A	acceptor_gain	1.0000
12:120522362:GA:G	acceptor_gain	1.0000
12:120522364:C:CC	acceptor_gain	1.0000
12:120522369:A:C	acceptor_gain	1.0000
12:120526565:CAT:C	acceptor_gain	1.0000
12:120526567:T:C	acceptor_gain	1.0000
12:120526567:T:TC	acceptor_gain	1.0000
12:120503882:CTTC:C	acceptor_gain	0.9900
12:120503886:C:CC	acceptor_gain	0.9900
12:120503886:CTGA:C	acceptor_loss	0.9900
12:120503887:TGAAA:T	acceptor_loss	0.9900

AlphaMissense

2152 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:120522305:A:C	S87R	0.997
12:120522305:A:T	S87R	0.997
12:120522307:T:G	S87R	0.997
12:120522350:A:C	F72L	0.997
12:120522350:A:T	F72L	0.997
12:120522352:A:G	F72L	0.997
12:120522286:A:G	W94R	0.996
12:120522286:A:T	W94R	0.996
12:120503991:A:C	S287R	0.994
12:120503991:A:T	S287R	0.994
12:120503993:T:G	S287R	0.994
12:120510035:A:C	N221K	0.994
12:120510035:A:T	N221K	0.994
12:120510047:A:C	F217L	0.994
12:120510047:A:T	F217L	0.994
12:120510049:A:G	F217L	0.994
12:120503979:A:C	F291L	0.993
12:120503979:A:T	F291L	0.993
12:120503981:A:G	F291L	0.993
12:120522331:A:G	Y79H	0.993
12:120504958:A:G	L236P	0.992
12:120504931:A:G	L245P	0.991
12:120504964:C:G	R234P	0.991
12:120503810:C:G	A320P	0.990
12:120503851:A:G	F306S	0.990
12:120504063:G:C	S263R	0.990
12:120504063:G:T	S263R	0.990
12:120504065:T:G	S263R	0.990
12:120504935:A:G	C244R	0.990
12:120522281:C:A	K95N	0.990

dbSNP variants (sampled 300 via entrez): RS1000023498 (12:120508886 G>A), RS1000199583 (12:120518607 C>T), RS1000226772 (12:120515042 C>A,G,T), RS1000276029 (12:120502994 A>G), RS1000385239 (12:120524043 G>A), RS1000399981 (12:120518527 TATTCTCCAGTC>T), RS1000438756 (12:120530415 T>G), RS1000654407 (12:120525978 A>C), RS1000701712 (12:120515298 T>C), RS1001029430 (12:120510277 A>T), RS1001193289 (12:120508643 G>A), RS1001298206 (12:120523969 C>G,T), RS1001402322 (12:120515037 C>A,T), RS1001642648 (12:120508043 C>A,G,T), RS1001687252 (12:120524323 C>A,G,T)

Disease associations

OMIM: gene MIM:616359 | disease phenotypes: MIM:619028

GenCC curated gene-disease

Disease	Classification	Inheritance
coenzyme q10 deficiency, primary, 9	Limited	Unknown
neurodevelopmental disorder	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Moderate	AR

Mondo (2): coenzyme q10 deficiency, primary, 9 (MONDO:0033615), neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000514	Slow saccadic eye movements
HP:0000571	Hypometric saccades
HP:0000666	Horizontal nystagmus
HP:0000736	Short attention span
HP:0001251	Ataxia
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001298	Encephalopathy
HP:0001310	Dysmetria
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001348	Brisk reflexes
HP:0002061	Lower limb spasticity
HP:0010602	Type 2 muscle fiber predominance
HP:0010865	Oppositional defiant disorder
HP:0025190	Bilateral tonic-clonic seizure with generalized onset
HP:0031629	Impaired tandem gait
HP:0100710	Impulsivity

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001688_8	Type 1 diabetes nephropathy	2.000000e-06
GCST010002_176	Refractive error	8.000000e-11
GCST010796_2391	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_2392	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_2393	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10849757	COQ5		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	3
Acetaminophen	increases expression, decreases expression	2
Hydrogen Peroxide	affects expression, increases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
lead acetate	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
isobutyl alcohol	decreases expression, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
picoxystrobin	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	decreases expression, increases abundance, affects cotreatment	1
Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone	increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	increases abundance, affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	decreases expression	1
T-2 Toxin	increases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SJ60	HAP1 COQ5 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice