COQ2 (coenzyme Q2, polyprenyltransferase)

Gene

• Entrez ID: 27235
• Gene name: Coenzyme Q2, polyprenyltransferase
• Gene symbol: COQ2
• Synonyms (NCBI Gene): CL640, COQ10D1, MSA1, PHB:PPT
• Chromosome: 4
• Chromosome location: 4q21.23
• Summary: This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyze

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027397	hsa-miR-99a-5p	Sequencing	20371350
MIRT027979	hsa-miR-93-5p	Sequencing	20371350
MIRT028814	hsa-miR-26b-5p	Microarray	19088304
MIRT904394	hsa-miR-106a	CLIP-seq
MIRT904395	hsa-miR-106b	CLIP-seq
MIRT904396	hsa-miR-17	CLIP-seq
MIRT904397	hsa-miR-1973	CLIP-seq
MIRT904398	hsa-miR-20a	CLIP-seq
MIRT904399	hsa-miR-20b	CLIP-seq
MIRT904400	hsa-miR-3119	CLIP-seq
MIRT904401	hsa-miR-3140-3p	CLIP-seq
MIRT904402	hsa-miR-3155	CLIP-seq
MIRT904403	hsa-miR-3155b	CLIP-seq
MIRT904404	hsa-miR-3609	CLIP-seq
MIRT904405	hsa-miR-3667-5p	CLIP-seq
MIRT904406	hsa-miR-380	CLIP-seq
MIRT904407	hsa-miR-4263	CLIP-seq
MIRT904408	hsa-miR-4307	CLIP-seq
MIRT904409	hsa-miR-4446-5p	CLIP-seq
MIRT904410	hsa-miR-4495	CLIP-seq
MIRT904411	hsa-miR-4509	CLIP-seq
MIRT904412	hsa-miR-4744	CLIP-seq
MIRT904413	hsa-miR-4755-5p	CLIP-seq
MIRT904414	hsa-miR-4796-3p	CLIP-seq
MIRT904415	hsa-miR-4799-5p	CLIP-seq
MIRT904416	hsa-miR-484	CLIP-seq
MIRT904417	hsa-miR-519d	CLIP-seq
MIRT904418	hsa-miR-548ah	CLIP-seq
MIRT904419	hsa-miR-576-5p	CLIP-seq
MIRT904420	hsa-miR-93	CLIP-seq
MIRT904415	hsa-miR-4799-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004659	Function	Prenyltransferase activity	IEA
GO:0004659	Function	Prenyltransferase activity	IGI	15153069
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	27493029
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006071	Process	Glycerol metabolic process	IGI	15153069
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	15153069
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IGI	15153069
GO:0006744	Process	Ubiquinone biosynthetic process	IMP	16400613, 17374725, 27493029
GO:0006744	Process	Ubiquinone biosynthetic process	TAS
GO:0008299	Process	Isoprenoid biosynthetic process	IEA
GO:0008412	Function	4-hydroxybenzoate polyprenyltransferase activity	IBA
GO:0008412	Function	4-hydroxybenzoate polyprenyltransferase activity	IEA
GO:0008412	Function	4-hydroxybenzoate polyprenyltransferase activity	IMP	16400613, 17374725
GO:0008412	Function	4-hydroxybenzoate polyprenyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016765	Function	Transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA

Other IDs

• MIM: 609825
• HGNC: 25223
• e!Ensembl: ENSG00000173085

Protein

• UniProt ID: Q96H96
• Protein name: 4-hydroxybenzoate polyprenyltransferase, mitochondrial (4-HB polyprenyltransferase) (EC 2.5.1.39) (4-hydroxybenzoate decaprenyltransferase) (COQ2 homolog) (hCOQ2) (Para-hydroxybenzoate--polyprenyltransferase) (PHB:PPT) (PHB:polyprenyltransferase)
• Protein function: Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis (PubMed:15153069, PubMed:16400613, PubMed:17374725, PubMed:20526342). Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl d
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01040	UbiA	89 → 347	UbiA prenyltransferase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart. {ECO:0000269|PubMed:15153069}.
• Sequence:

  MLGSRAAGFARGLRALALAWLPGWRGRSFALARAAGAPHGGDLQPPACPEPRGRQLSLSA
  AAVVDSAPRPLQPYLRLMRLDKPIGTWLLYLPCTWSIGLAAEPGCFPDWYMLSLFGTGAI
  LMRGAGCTINDMWDQDYDKKVTRTANRPIAAGDISTFQSFVFLGGQLTLALGVLLCLNYY
  SIALGAGSLLLVITYPLMKRISYWPQLALGLTFNWGALLGWSAIKGSCDPSVCLPLYFSG
  VMWTLIYDTIYAHQDKRDDVLIGLKSTALRFGENTKPWLSGFSVAMLGALSLVGVNSGQT
  APYYAALGAVGAHLTHQIYTLDIHRPEDCWNKFISNRTLGLIVFLGIVLGNLWKEKKTDK
  TKKGIENKIEN

• Sequence length: 371

Pathways

KEGG:

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Coenzyme Q10 deficiency	Likely pathogenic; Pathogenic	rs121918230, rs121918231, rs121918233, rs750710187, rs1057519348	RCV000416386 RCV000416395 RCV000416406 RCV000416389 RCV000416391	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coenzyme Q10 deficiency, primary, 1	Likely pathogenic; Pathogenic	rs1734860676, rs767624218, rs1397649685, rs121918230, rs121918231, rs121918233, rs2126177139, rs1169311005, rs750710187, rs1057519348, rs1577993720	RCV005034516 RCV001780862 RCV001824233 RCV000001501 RCV000001503 RCV000001505 RCV002505910 RCV003143767 RCV000001502 RCV005033950 RCV000995527	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple system atrophy	Pathogenic	rs1735008495	RCV001333884	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple system atrophy 1, susceptibility to	Likely pathogenic; Pathogenic	rs1734860676, rs121918231, rs121918233, rs2126177139, rs2529761222, rs750710187, rs1057519348	RCV005034516 RCV002504734 RCV002496230 RCV002505910 RCV003333396 RCV005033951 RCV005033950	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal encephalopathy	Likely pathogenic; Pathogenic	rs867410805	RCV003154307	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic	rs1198292264	RCV001849671	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COQ2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH NEPHROTIC SYNDROME	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY WITH ORTHOSTATIC HYPOTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHY-DRAGER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ALPORT SYNDROME 1, X-LINKED	Alport Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25613861		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	9692171		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	24611504		★☆☆☆☆ Found in Text Mining only
Autonomic bladder dysfunction	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33397173	Associate	★☆☆☆☆ Found in Text Mining only
Camptocormia	Camptocormia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	19096106, 26096180	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	31736705		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	16400613, 17332895, 23343605, 23631824, 25373618, 27272977, 27493029, 31660881		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	16400613, 17332895, 19096106, 23631824, 25373618, 25564041, 29637272, 31660881, 33187544, 33397173, 35643375	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	17374725	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COENZYME Q10 DEFICIENCY, PRIMARY, 1	Coenzyme Q10 deficiency	UNIPROT_DG	16400613, 17374725, 17855635, 23343605, 25564041, 27493029, 28044327		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COENZYME Q10 DEFICIENCY, PRIMARY, 1	Coenzyme Q10 deficiency	GENOMICS_ENGLAND_DG	17332895, 24896178, 25655951, 27604308, 30180404		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COENZYME Q10 DEFICIENCY, PRIMARY, 1	Coenzyme Q10 deficiency	CLINVAR_DG	17855635, 25525159, 27493029		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COENZYME Q10 DEFICIENCY, PRIMARY, 1	Coenzyme Q10 deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	21868014	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	23758206	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female anorgasmia	Female anorgasmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	33397173	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	23349334	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	19436728		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	17186472, 23349334, 31660881, 33187544, 33397173	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	17855635, 29637272, 31660881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	31660881, 33187544	Associate	★☆☆☆☆ Found in Text Mining only
Leigh syndrome with nephrotic syndrome	Leigh Syndrome With Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	36168972	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	20581681		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	17332895	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	17186472	Associate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	23758206, 25373618, 26096180, 26812605, 27374978, 28150130, 30242188	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple system atrophy, cerebellar type	Multiple System Atrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple system atrophy, parkinsonian type	Multiple System Atrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	23816342		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	17376224, 20581681, 23942138, 24176465		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	20581681		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	17186472, 23816342, 29637272		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	17186472, 23349334, 29637272, 31660881, 33397173	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29644397		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	20581681		★☆☆☆☆ Found in Text Mining only
Neuromuscular dysphagia	Neuromuscular dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	36420660	Associate	★☆☆☆☆ Found in Text Mining only
Orthostatic syncope	Orthostatic syncope	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25200193, 26098829, 29644397		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	26096180		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	17855635, 31660881		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	33187544	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	31660881		★☆☆☆☆ Found in Text Mining only
Striatonigral Degeneration	Striatonigral Degeneration	ORPHANET_DG	23758206		★☆☆☆☆ Found in Text Mining only