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
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.⁶⁷

Clinical relevance

Mutations in this gene have been found associated to cases of Dubowitz-like syndrome.⁸

References

GRCh38: Ensembl release 89: ENSG00000037474 – Ensembl, May 2017
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.
"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.

Function

Clinical relevance

References

Further reading