Biology:NSUN2
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2 gene.[1] 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.[1] NSUN2 is also localized on mitochondria and is capable of introducing post-transcriptional modifications in mitochondrial tRNAs.[2][3]
Clinical relevance
Mutations in this gene have been found associated to cases of Dubowitz-like syndrome.[4]
References
- ↑ 1.0 1.1 "NOP2/Sun domain family, member 2". https://www.ncbi.nlm.nih.gov/gene/54888.
- ↑ "Mammalian NSUN2 introduces 5-methylcytidines into mitochondrial tRNAs". Nucleic Acids Research 47 (16): 8734–8745. July 2019. doi:10.1093/nar/gkz575. PMID 31287866.
- ↑ "NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs". Nucleic Acids Research 47 (16): 8720–8733. July 2019. doi:10.1093/nar/gkz559. PMID 31276587.
- ↑ "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. June 2012. doi:10.1136/jmedgenet-2011-100686. PMID 22577224.
Further reading
- "Genomic gain of 5p15 leads to over-expression of Misu (NSUN2) in breast cancer". Cancer Letters 289 (1): 71–80. March 2010. doi:10.1016/j.canlet.2009.08.004. PMID 19740597.
- "The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability". The Journal of Cell Biology 186 (1): 27–40. July 2009. doi:10.1083/jcb.200810180. PMID 19596847.
- "Aurora-B regulates RNA methyltransferase NSUN2". Molecular Biology of the Cell 18 (3): 1107–17. March 2007. doi:10.1091/mbc.E06-11-1021. PMID 17215513.
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