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	27235
Gene name	Coenzyme Q2, polyprenyltransferase
Gene symbol	COQ2
Synonyms (NCBI Gene)	CL640COQ10D1MSA1PHB: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

Show/Hide all (31)

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

Show/Hide all (24)

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

MIM	HGNC	e!Ensembl
609825	25223	ENSG00000173085

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

Interactions

View interactions

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

214

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Coenzyme Q10 deficiency	Likely pathogenic; Pathogenic	rs121918230, rs121918231, rs121918233, rs750710187, rs1057519348	RCV000416386 RCV000416395 RCV000416406 RCV000416389 RCV000416391
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
Multiple system atrophy	Pathogenic	rs1735008495	RCV001333884
Multiple system atrophy 1, susceptibility to	Likely pathogenic; Pathogenic	rs1734860676, rs121918231, rs121918233, rs2126177139, rs2529761222, rs750710187, rs1057519348	RCV005034516 RCV002504734 RCV002496230 RCV002505910 RCV003333396 RCV005033951 RCV005033950
Neonatal encephalopathy	Likely pathogenic; Pathogenic	rs867410805	RCV003154307
Nephrotic syndrome	Likely pathogenic	rs1198292264	RCV001849671

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
COQ2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs555411841, rs767013819, rs766552045, rs1220218092, rs571021239, rs538352658, rs769268024, rs376948148, rs549493176, rs747575952, rs778586293, rs566165293, rs1379033743, rs1477654289, rs571717352 View all (7 more)	RCV004754738 RCV003416410 RCV003426227 RCV004754829 RCV003913629 RCV003958694 RCV003408221 RCV003953881 RCV003971316 RCV003898466 RCV003898579 RCV003891770 RCV004731312 RCV003408624 RCV003921758 RCV003894373 RCV003964541 RCV003944160 RCV003951709 RCV003902555 RCV003928163 RCV003413799
Focal segmental glomerulosclerosis	Benign; Likely benign; Conflicting classifications of pathogenicity	rs112033303, rs368507578, rs375934957, rs767298430	RCV002294039 RCV002294040 RCV002294077 RCV002294084
Kidney disorder	Uncertain significance	rs1735006080, rs779191310	RCV002294609 RCV002294678
Mitochondrial disease	Uncertain significance	rs767013819, rs371993270	RCV005369934 RCV005361771
Ovarian serous cystadenocarcinoma	Uncertain significance	rs757009353	RCV005924242
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs776701765	RCV005924149

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	31660881
Brain Diseases	Associate	33397173
Cerebellar Diseases	Associate	19096106, 26096180
Coenzyme Q10 Deficiency	Associate	16400613, 17332895, 19096106, 23631824, 25373618, 25564041, 29637272, 31660881, 33187544, 33397173, 35643375
Coenzyme Q10 Deficiency	Inhibit	17374725
Cone Rod Dystrophies	Associate	33187544
COVID 19	Associate	34232998
Cryopyrin Associated Periodic Syndromes	Associate	25373618
Disease	Associate	29637272
Dystonia	Associate	21868014
Dystonic Disorders	Associate	23758206
Genetic Diseases Inborn	Associate	17376224
Glomerulosclerosis Focal Segmental	Associate	33397173
Hearing Loss Sensorineural	Associate	23349334
Hypertensive Retinopathy	Associate	33187544, 36420660
Kidney Diseases	Associate	17186472, 23349334, 31660881, 33187544, 33397173
Kidney Failure Chronic	Associate	31660881, 33187544
Lissencephaly	Associate	36168972
Mitochondrial Diseases	Associate	17332895
Mitochondrial Encephalomyopathies	Associate	17186472
Multiple System Atrophy	Associate	23758206, 25373618, 26096180, 26812605, 27374978, 28150130, 30242188
Muscular Diseases	Associate	17376224, 30595243
Myalgia	Associate	21868014
Nephrotic Syndrome	Associate	17186472, 23349334, 29637272, 31660881, 33397173
Nerve Degeneration	Associate	30242188
Optic Atrophy	Associate	36420660
Renal Insufficiency Chronic	Associate	31660881
Senior Loken Syndrome	Associate	33187544

COQ2 (coenzyme Q2, polyprenyltransferase)