COQ2

COQ2
Identifiers
Aliases	COQ2, CL640, COQ10D1, MSA1, PHB:PPT, coenzyme Q2, polyprenyltransferase
External IDs	OMIM: 609825; MGI: 1919133; HomoloGene: 69192; GeneCards: COQ2; OMA:COQ2 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	83,284,914 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	100,823,006 bp
RNA expression pattern
	Top expressed in
	Skeletal muscle tissue of biceps brachii; ; Skeletal muscle tissue of rectus abdominis; ; gingival epithelium; ; vastus lateralis muscle; ; monocyte; ; body of tongue; ; triceps brachii muscle; ; muscle of thigh; ; glutes; ; deltoid muscle;
	Top expressed in
	left ventricle; ; interventricular septum; ; proximal tubule; ; quadriceps femoris muscle; ; right kidney; ; muscle of thigh; ; upper arm; ; neural layer of retina; ; muscle tissue; ; visual cortex;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; 4-hydroxybenzoate nonaprenyltransferase activity; prenyltransferase activity; 4-hydroxybenzoate decaprenyltransferase activity; transferase activity, transferring alkyl or aryl (other than methyl) groups;
Cellular component	integral component of membrane; mitochondrial inner membrane; membrane; mitochondrion; integral component of mitochondrial inner membrane;
Biological process	glycerol metabolic process; isoprenoid biosynthetic process; ubiquinone biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	27235
	71883
	ENSG00000173085
	ENSMUSG00000029319
	Q96H96
	Q66JT7
	NM_015697; NM_001358921
	NM_027978
	NP_056512; NP_001345850
	NP_082254
	Wikidata
View/Edit Human	View/Edit Mouse

Para-hydroxybenzoate—polyprenyltransferase, mitochondrial is an enzyme that in humans is encoded by the COQ2 gene.⁵⁶

CoQ (ubiquinone) serves as a redox carrier in the mitochondrial respiratory chain and is a lipid-soluble antioxidant. COQ2, or parahydroxybenzoate-polyprenyltransferase (EC 2.5.1.39), catalyzes one of the final reactions in the biosynthesis of CoQ, the prenylation of parahydroxybenzoate with an all-trans polyprenyl group (Forsgren et al., 2004).[supplied by OMIM]⁶

Role in pathology

Homozygous or compound heterozygous mutations of the COQ2 gene cause primary coenzyme Q10 deficiency 1, a mitochondrial disease.

References

GRCh38: Ensembl release 89: ENSG00000173085 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000029319 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Forsgren M, Attersand A, Lake S, Grunler J, Swiezewska E, Dallner G, Climent I (Aug 2004). "Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ". Biochem J. 382 (Pt 2): 519–26. doi:10.1042/BJ20040261. PMC 1133808. PMID 15153069.
"Entrez Gene: COQ2 coenzyme Q2 homolog, prenyltransferase (yeast)".

External links

Human COQ2 genome location and COQ2 gene details page in the UCSC Genome Browser.

Further reading

Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Esaka Y, Nagahara Y, Hasome Y, et al. (2005). "Coenzyme Q2 induced p53-dependent apoptosis". Biochim. Biophys. Acta. 1724 (1–2): 49–58. doi:10.1016/j.bbagen.2005.04.013. PMID 15905035.
Quinzii C, Naini A, Salviati L, et al. (2007). "A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency". Am. J. Hum. Genet. 78 (2): 345–9. doi:10.1086/500092. PMC 1380241. PMID 16400613.
Burón MI, Hermán MD, Alcaín FJ, Villalba JM (2006). "Stimulation of polyprenyl 4-hydroxybenzoate transferase activity by sodium cholate and 3-[(cholamidopropyl)dimethylammonio]-1-propanesulfonate". Anal. Biochem. 353 (1): 15–21. doi:10.1016/j.ab.2006.03.029. PMID 16643834.
González-Aragón D, Burón MI, López-Lluch G, et al. (2006). "Coenzyme Q and the regulation of intracellular steady-state levels of superoxide in HL-60 cells". BioFactors. 25 (1–4): 31–41. doi:10.1002/biof.5520250105. PMID 16873928. S2CID 45053711.
Mollet J, Giurgea I, Schlemmer D, et al. (2007). "Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders". J. Clin. Invest. 117 (3): 765–72. doi:10.1172/JCI29089. PMC 1804361. PMID 17332895.
López-Martín JM, Salviati L, Trevisson E, et al. (2007). "Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis". Hum. Mol. Genet. 16 (9): 1091–7. doi:10.1093/hmg/ddm058. PMC 4345105. PMID 17374725.
Oh J, Ban MR, Miskie BA, et al. (2007). "Genetic determinants of statin intolerance". Lipids in Health and Disease. 6: 7. doi:10.1186/1476-511X-6-7. PMC 1832194. PMID 17376224.
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, et al. (2007). "COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement". J. Am. Soc. Nephrol. 18 (10): 2773–80. doi:10.1681/ASN.2006080833. PMID 17855635.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000173085 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029319 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15153069-5] Forsgren M, Attersand A, Lake S, Grunler J, Swiezewska E, Dallner G, Climent I (Aug 2004). "Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ". Biochem J. 382 (Pt 2): 519–26. doi:10.1042/BJ20040261. PMC 1133808. PMID 15153069.

[entrez-6] "Entrez Gene: COQ2 coenzyme Q2 homolog, prenyltransferase (yeast)".

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