NOL1/NOP2/SUN Domain Family, Member 2

Alternative Names

  • NSUN2
  • TRM4, S. Cerevisiae, Homolog of
  • TRM4
  • Substrate of AIM1/Aurora Kinase B
  • SAKI
  • MYC-Induced SUN Domain-Containing Protein
  • MISU
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OMIM Number

610916

NCBI Gene ID

54888

Uniprot ID

Q08J23

Length

34,053 bases

No. of Exons

19

No. of isoforms

3

Protein Name

RNA cytosine C(5)-methyltransferase NSUN2

Molecular Mass

86471 Da

Amino Acid Count

767

Genomic Location

chr5:6,599,239-6,633,291

Gene Map Locus
5p15.31

Description

The NSUN2 gene encodes a methyltransferase with a NOL1/NOP2/Sun domain. NSUN2 catalyzes the methylation of cytosine 34 (C34) of intron-containing tRNA(Leu)(CAA) and of C47 and C48 of tRNA-asp(GTC) precursors. This modification stabilizes anticodon-codon pairing and correctly translates the mRNA. It was also demonstrated that this modification protects tRNA from cleavage and degradation. NSUN2 is known to operate downstream of c-MYC during cell proliferation. Independent of its methyltransferase activity, NSUN2 interacts with the mitotic spindle and plays an important role in cell division.

Four different transcripts of NSUN2 are expressed in human brain at various times during development. And the full length protein is 767 amino acid long.

Molecular Genetics

The NSUN2 gene has 19 exons and spans 34 kb. Mutations in NSUN2 were found to cause autosomal recessive mental retardation 5 (MRT5). Of these mutations are nonsense (p.Q227X, p.Q372X), and missense (p.G679R) ones. In addition to these, a mutation was found to abolish the canonical splice acceptor site of exon 6 in NSUN2 gene, leading to the use of a cryptic splice donor instead. This was found to cause the absence of NSUN2 protein in patient cells.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017755.6:c.1020delUnited Arab EmiratesNC_000005.10:g.6616729delPathogenicPathogenicMental Retardation, Autosomal Recessive 5NG_028215.1:g.21633del; NM_017755.6:c.1020del; NP_060225.4:p.Gly341ValfsTer151579368865828097
NM_017755.6:c.1478delSaudi ArabiaNC_000005.10:g.6607231delPathogenicMental Retardation, Autosomal Recessive 5NG_028215.1:g.31131del; NM_017755.6:c.1478del; NP_060225.4:p.Asn493IlefsTer18
NM_017755.6:c.538-1G>CLebanonchr5:6622101PathogenicPathogenicMental Retardation, Autosomal Recessive 5NG_028215.1:g.16260G>C; NM_017755.6:c.538-1G>C156098256437005
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