NSUN2
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2 gene.{{cite web | title = NOP2/Sun domain family, member 2| url = https://www.ncbi.nlm.nih.gov/gene/54888| access-date = 2011-12-04}} Alternatively spliced transcript variants encoding different isoforms have been noted for the gene.
Function
The protein is a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA (Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. NSUN2 is also localized on mitochondria and is capable of introducing post-transcriptional modifications in mitochondrial tRNAs.{{cite journal | vauthors = Shinoda S, Kitagawa S, Nakagawa S, Wei FY, Tomizawa K, Araki K, Araki M, Suzuki T, Suzuki T | display-authors = 6 | title = Mammalian NSUN2 introduces 5-methylcytidines into mitochondrial tRNAs | journal = Nucleic Acids Research | volume = 47 | issue = 16 | pages = 8734–8745 | date = July 2019 | pmid = 31287866 | doi = 10.1093/nar/gkz575 | pmc = 6895283 }}{{cite journal | vauthors = Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, Garone C, Shin S, Kim JS, Frye M, Gleeson JG, Miska EA, Rhee HW, Minczuk M | display-authors = 6 | title = NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs | journal = Nucleic Acids Research | volume = 47 | issue = 16 | pages = 8720–8733 | date = July 2019 | pmid = 31276587 | pmc = 6822013 | doi = 10.1093/nar/gkz559 }}
Clinical relevance
Mutations in this gene have been found associated to cases of Dubowitz-like syndrome.{{cite journal | vauthors = Martinez FJ, Lee JH, Lee JE, Blanco S, Nickerson E, Gabriel S, Frye M, Al-Gazali L, Gleeson JG | display-authors = 6 | title = Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome | journal = Journal of Medical Genetics | volume = 49 | issue = 6 | pages = 380–5 | date = June 2012 | pmid = 22577224 | pmc = 4771841 | doi = 10.1136/jmedgenet-2011-100686 }}
References
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Further reading
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- {{cite journal | vauthors = Frye M, Dragoni I, Chin SF, Spiteri I, Kurowski A, Provenzano E, Green A, Ellis IO, Grimmer D, Teschendorff A, Zouboulis CC, Caldas C, Watt FM | display-authors = 6 | title = Genomic gain of 5p15 leads to over-expression of Misu (NSUN2) in breast cancer | journal = Cancer Letters | volume = 289 | issue = 1 | pages = 71–80 | date = March 2010 | pmid = 19740597 | doi = 10.1016/j.canlet.2009.08.004 }}
- {{cite journal | vauthors = Hussain S, Benavente SB, Nascimento E, Dragoni I, Kurowski A, Gillich A, Humphreys P, Frye M | display-authors = 6 | title = The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability | journal = The Journal of Cell Biology | volume = 186 | issue = 1 | pages = 27–40 | date = July 2009 | pmid = 19596847 | pmc = 2712989 | doi = 10.1083/jcb.200810180 }}
- {{cite journal | vauthors = Sakita-Suto S, Kanda A, Suzuki F, Sato S, Takata T, Tatsuka M | title = Aurora-B regulates RNA methyltransferase NSUN2 | journal = Molecular Biology of the Cell | volume = 18 | issue = 3 | pages = 1107–17 | date = March 2007 | pmid = 17215513 | pmc = 1805108 | doi = 10.1091/mbc.E06-11-1021 }}
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Category:Genes mutated in mice
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