NSUN2

NSUN2
Identifiers
AliasesNSUN2, MISU, MRT5, SAKI, TRM4, NOP2/Sun RNA methyltransferase family member 2, NOP2/Sun RNA methyltransferase 2
External IDsOMIM: 610916; MGI: 107252; GeneCards: NSUN2
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.1.1.203↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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 MbChr 13: 69.68 – 69.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000037474 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ a b "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.
  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.

Further reading

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