Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84274
Gene name	Coenzyme Q5, methyltransferase
Gene symbol	COQ5
Synonyms (NCBI Gene)	COQ10D9
Chromosome	12
Chromosome location	12q24.31

Show/Hide all (97)

miRTarBase ID	miRNA	Experiments
MIRT904429	hsa-miR-1202	CLIP-seq
MIRT904430	hsa-miR-205	CLIP-seq
MIRT904431	hsa-miR-362-5p	CLIP-seq
MIRT904432	hsa-miR-3672	CLIP-seq
MIRT904433	hsa-miR-3972	CLIP-seq
MIRT904434	hsa-miR-4277	CLIP-seq
MIRT904435	hsa-miR-4436b-5p	CLIP-seq
MIRT904436	hsa-miR-4776-3p	CLIP-seq
MIRT904437	hsa-miR-500b	CLIP-seq
MIRT904438	hsa-miR-501-5p	CLIP-seq
MIRT1968160	hsa-miR-1269	CLIP-seq
MIRT1968161	hsa-miR-1269b	CLIP-seq
MIRT1968162	hsa-miR-1273f	CLIP-seq
MIRT1968163	hsa-miR-1288	CLIP-seq
MIRT1968164	hsa-miR-3192	CLIP-seq
MIRT1968165	hsa-miR-326	CLIP-seq
MIRT1968166	hsa-miR-330-5p	CLIP-seq
MIRT1968167	hsa-miR-4314	CLIP-seq
MIRT1968168	hsa-miR-4515	CLIP-seq
MIRT1968169	hsa-miR-4646-5p	CLIP-seq
MIRT1968170	hsa-miR-4740-5p	CLIP-seq
MIRT2204050	hsa-miR-1206	CLIP-seq
MIRT2204051	hsa-miR-1226	CLIP-seq
MIRT2204052	hsa-miR-1305	CLIP-seq
MIRT2204053	hsa-miR-29a	CLIP-seq
MIRT2204054	hsa-miR-29b	CLIP-seq
MIRT2204055	hsa-miR-29c	CLIP-seq
MIRT2204056	hsa-miR-3065-3p	CLIP-seq
MIRT2204057	hsa-miR-3154	CLIP-seq
MIRT2204058	hsa-miR-3201	CLIP-seq
MIRT2204059	hsa-miR-329	CLIP-seq
MIRT2204060	hsa-miR-362-3p	CLIP-seq
MIRT904431	hsa-miR-362-5p	CLIP-seq
MIRT2204061	hsa-miR-3680	CLIP-seq
MIRT2204062	hsa-miR-3714	CLIP-seq
MIRT2204063	hsa-miR-3919	CLIP-seq
MIRT2204064	hsa-miR-421	CLIP-seq
MIRT2204065	hsa-miR-4274	CLIP-seq
MIRT904434	hsa-miR-4277	CLIP-seq
MIRT2204066	hsa-miR-4519	CLIP-seq
MIRT2204067	hsa-miR-4524	CLIP-seq
MIRT2204068	hsa-miR-4530	CLIP-seq
MIRT2204069	hsa-miR-4645-5p	CLIP-seq
MIRT2204070	hsa-miR-4673	CLIP-seq
MIRT2204071	hsa-miR-4709-5p	CLIP-seq
MIRT2204072	hsa-miR-4791	CLIP-seq
MIRT904437	hsa-miR-500b	CLIP-seq
MIRT904438	hsa-miR-501-5p	CLIP-seq
MIRT2204073	hsa-miR-539	CLIP-seq
MIRT2204074	hsa-miR-634	CLIP-seq
MIRT2204075	hsa-miR-642a	CLIP-seq
MIRT2204076	hsa-miR-922	CLIP-seq
MIRT2507453	hsa-miR-105	CLIP-seq
MIRT2204051	hsa-miR-1226	CLIP-seq
MIRT2204053	hsa-miR-29a	CLIP-seq
MIRT2204054	hsa-miR-29b	CLIP-seq
MIRT2204055	hsa-miR-29c	CLIP-seq
MIRT2204056	hsa-miR-3065-3p	CLIP-seq
MIRT2204057	hsa-miR-3154	CLIP-seq
MIRT2507454	hsa-miR-320a	CLIP-seq
MIRT2507455	hsa-miR-320b	CLIP-seq
MIRT2507456	hsa-miR-320c	CLIP-seq
MIRT2507457	hsa-miR-320d	CLIP-seq
MIRT2507458	hsa-miR-3607-3p	CLIP-seq
MIRT2507459	hsa-miR-3671	CLIP-seq
MIRT2204062	hsa-miR-3714	CLIP-seq
MIRT2204063	hsa-miR-3919	CLIP-seq
MIRT2507460	hsa-miR-3940-5p	CLIP-seq
MIRT2507461	hsa-miR-4429	CLIP-seq
MIRT2507462	hsa-miR-4507	CLIP-seq
MIRT2204068	hsa-miR-4530	CLIP-seq
MIRT2507463	hsa-miR-4660	CLIP-seq
MIRT2507464	hsa-miR-607	CLIP-seq
MIRT2507465	hsa-miR-616	CLIP-seq
MIRT2204074	hsa-miR-634	CLIP-seq
MIRT2204075	hsa-miR-642a	CLIP-seq
MIRT2507466	hsa-miR-646	CLIP-seq
MIRT2204076	hsa-miR-922	CLIP-seq
MIRT2507453	hsa-miR-105	CLIP-seq
MIRT2678470	hsa-miR-124	CLIP-seq
MIRT2678471	hsa-miR-3150b-3p	CLIP-seq
MIRT2678472	hsa-miR-3194-3p	CLIP-seq
MIRT2678473	hsa-miR-3622a-5p	CLIP-seq
MIRT904431	hsa-miR-362-5p	CLIP-seq
MIRT2507459	hsa-miR-3671	CLIP-seq
MIRT904432	hsa-miR-3672	CLIP-seq
MIRT2507460	hsa-miR-3940-5p	CLIP-seq
MIRT2507462	hsa-miR-4507	CLIP-seq
MIRT2678474	hsa-miR-4708-5p	CLIP-seq
MIRT2678475	hsa-miR-4784	CLIP-seq
MIRT904437	hsa-miR-500b	CLIP-seq
MIRT904438	hsa-miR-501-5p	CLIP-seq
MIRT2678476	hsa-miR-506	CLIP-seq
MIRT2507464	hsa-miR-607	CLIP-seq
MIRT2507465	hsa-miR-616	CLIP-seq
MIRT2678477	hsa-miR-626	CLIP-seq
MIRT2204075	hsa-miR-642a	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25152161, 27499296, 35614220
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	25152161
GO:0005743	Component	Mitochondrial inner membrane	IDA	27499296
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	25152161
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	38425362
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IGI	25152161
GO:0006744	Process	Ubiquinone biosynthetic process	NAS	28927698
GO:0006744	Process	Ubiquinone biosynthetic process	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008425	Function	2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity	IBA
GO:0008425	Function	2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity	IDA	25152161, 38425362
GO:0008425	Function	2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity	IEA
GO:0008425	Function	2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0032259	Process	Methylation	IDA	25152161
GO:0032259	Process	Methylation	IEA
GO:0032991	Component	Protein-containing complex	IDA	25152161
GO:0110142	Component	Ubiquinone biosynthesis complex	IPI	27499296

MIM	HGNC	e!Ensembl
616359	28722	ENSG00000110871

Q5HYK3

Protein name

2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial (EC 2.1.1.201) (Ubiquinone biosynthesis methyltransferase COQ5)

Protein 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).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01209	Ubie_methyltran	57 → 326	ubiE/COQ5 methyltransferase family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in liver, lung, placenta and skeletal muscle. {ECO:0000269|PubMed:25152161}.

Sequence

MAAPGSCALWSYCGRGWSRAMRGCQLLGLRSSWPGDLLSARLLSQEKRAAETHFGFETVS
EEEKGGKVYQVFESVAKKYDVMNDMMSLGIHRVWKDLLLWKMHPLPGTQLLDVAGGTGDI
AFRFLNYVQSQHQRKQKRQLRAQQNLSWEEIAKEYQNEEDSLGGSRVVVCDINKEMLKVG
KQKALAQGYRAGLAWVLGDAEELPFDDDKFDIYTIAFGIRNVTHIDQALQEAHRVLKPGG
RFLCLEFSQVNNPLISRLYDLYSFQVIPVLGEVIAGDWKSYQYLVESIRRFPSQEEFKDM
IEDAGFHKVTYESLTSGIVAIHSGFKL

Sequence length

327

Interactions

View interactions

	KEGG
	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coenzyme q10 deficiency, primary, 9	Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, HPO, Orphanet ClinVar, Disgenet, HPO, Orphanet ClinVar, Disgenet, HPO, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COQ5-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brain Diseases	Brain disease	Pubtator	37599337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	37599337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	37599337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	29044765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37599337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	37599337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37599337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	37599337	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37599337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27852445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only

COQ5 (coenzyme Q5, methyltransferase)