NSUN2

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.

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)[1] Band 5p15.31 Start 6,599,239 bp[1] End 6,633,291 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 B3|13 35.55 cM Start 69,681,865 bp[2] End 69,783,899 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 54888 28114 Ensembl ENSG00000037474 ENSMUSG00000021595 UniProt Q08J23 Q1HFZ0 RefSeq (mRNA) NM_001193455 NM_017755 NM_145354 RefSeq (protein) NP_001180384 NP_060225 NP_663329 Location (UCSC) Chr 5: 6.6 – 6.63 Mb Chr 13: 69.68 – 69.78 Mb PubMed search [3] [4]
Wikidata
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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]