| NSUN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NSUN2, MISU, MRT5, SAKI, TRM4, NOP2/Sun RNA methyltransferase family member 2, NOP2/Sun RNA methyltransferase 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610916 MGI: 107252 HomoloGene: 9817 GeneCards: NSUN2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2 gene.[5] 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.[5] NSUN2 is also localized on mitochondria and is capable of introducing post-transcriptional modifications in mitochondrial tRNAs.[6][7]
Clinical relevance
Mutations in this gene have been found associated to cases of Dubowitz-like syndrome.[8]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000037474 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021595 - 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.
- 1 2 "NOP2/Sun domain family, member 2". Retrieved 2011-12-04.
- ↑ Shinoda S, Kitagawa S, Nakagawa S, Wei FY, Tomizawa K, Araki K, et al. (July 2019). "Mammalian NSUN2 introduces 5-methylcytidines into mitochondrial tRNAs". Nucleic Acids Research. 47 (16): 8734–8745. doi:10.1093/nar/gkz575. PMC 6895283. PMID 31287866.
- ↑ Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, et al. (July 2019). "NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs". Nucleic Acids Research. 47 (16): 8720–8733. doi:10.1093/nar/gkz559. PMC 6822013. PMID 31276587.
- ↑ Martinez FJ, Lee JH, Lee JE, Blanco S, Nickerson E, Gabriel S, et al. (June 2012). "Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome". Journal of Medical Genetics. 49 (6): 380–5. doi:10.1136/jmedgenet-2011-100686. PMC 4771841. PMID 22577224.
Further reading
- Frye M, Dragoni I, Chin SF, Spiteri I, Kurowski A, Provenzano E, et al. (March 2010). "Genomic gain of 5p15 leads to over-expression of Misu (NSUN2) in breast cancer". Cancer Letters. 289 (1): 71–80. doi:10.1016/j.canlet.2009.08.004. PMID 19740597.
- Hussain S, Benavente SB, Nascimento E, Dragoni I, Kurowski A, Gillich A, et al. (July 2009). "The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability". The Journal of Cell Biology. 186 (1): 27–40. doi:10.1083/jcb.200810180. PMC 2712989. PMID 19596847.
- Sakita-Suto S, Kanda A, Suzuki F, Sato S, Takata T, Tatsuka M (March 2007). "Aurora-B regulates RNA methyltransferase NSUN2". Molecular Biology of the Cell. 18 (3): 1107–17. doi:10.1091/mbc.E06-11-1021. PMC 1805108. PMID 17215513.
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