NSUN2

NSUN2
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; OMA:NSUN2 - orthologs
Enzyme activity
Gene location (Human)
Chr.	Chromosome 5 (human)
End	6,633,291 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	69,783,899 bp
RNA expression pattern
	Top expressed in
	skin of arm; ; right uterine tube; ; secondary oocyte; ; right lobe of liver; ; skin of abdomen; ; appendix; ; skin of leg; ; lymph node; ; pancreatic epithelial cell; ; spleen;
	Top expressed in
	otic placode; ; otic vesicle; ; tail of embryo; ; epiblast; ; saccule; ; Ileal epithelium; ; primitive streak; ; abdominal wall; ; genital tubercle; ; hair follicle;
	More reference expression data
	n/a
Gene ontology
Molecular function	methyltransferase activity; transferase activity; tRNA binding; tRNA (cytosine-5-)-methyltransferase activity; RNA binding;
Cellular component	cytoplasm; chromatoid body; spindle; nucleoplasm; nucleolus; cytoskeleton; nucleus;
Biological process	tRNA methylation; meiotic cell cycle checkpoint signaling; cell division; tRNA modification; methylation; spermatid development; cell cycle; tRNA processing; hair follicle maturation;
	Sources:Amigo / QuickGO
Orthologs
	54888
	28114
	ENSG00000037474
	ENSMUSG00000021595
	Q08J23
	Q1HFZ0
	NM_001193455; NM_017755
	NM_145354
	NP_001180384; NP_060225
	NP_663329
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000037474 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021595 – 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.

[entrez-5] 1 2 "NOP2/Sun domain family, member 2". Retrieved 2011-12-04.

[6] 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.

[7] 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.

[pmid22577224-8] 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.

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NSUN2

Function

Clinical relevance

References

Further reading