COQ2 Knowpia

COQ2
Identifiers
Aliases	COQ2, CL640, COQ10D1, MSA1, PHB:PPT, coenzyme Q2, polyprenyltransferase
External IDs	OMIM: 609825 MGI: 1919133 HomoloGene: 69192 GeneCards: COQ2
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
	vastus lateralis muscle; ; monocyte; ; body of tongue; ; triceps brachii muscle; ; deltoid muscle; ; palpebral conjunctiva; ; right adrenal gland; ; left adrenal gland; ; right ventricle; ; thoracic diaphragm;
	Top expressed in
	left ventricle; ; interventricular septum; ; proximal tubule; ; quadriceps femoris muscle; ; upper arm; ; muscle tissue; ; visual cortex; ; pancreas; ; superior frontal gyrus; ; zone of skin;
	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.^[5]^[6]

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]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000173085 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "Entrez Gene: COQ2 coenzyme Q2 homolog, prenyltransferase (yeast)".

External links edit

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

Further reading edit

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)".

[5]

[6]

[1]

[2]

[3]

[4]

Summary

References edit

External links edit

Further reading edit