NSUN2 encodes a methyltransferase that catalyzes the intron-dependent formation of 5-methylcytosine at C34 of tRNA-leu(CAA). Maturation of cytoplasmic tRNAs includes splicing of introns, which are located 1 nucleotide 3-prime from the anticodon in all intron-containing tRNA genes. In tRNA-leu(CAA), the first position of the anticodon, C34, is converted to 5-methylcytosine, a modification necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Mutations of NSUN2 result in autosomal recessive 5 mental retardation (MRT5).
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 5-methycytoisine methyltransferase; hTrm4; Misu; mRNA cytosine C(5)-methyltransferase; Myc-induced SUN domain containing protein; Myc-induced SUN domain-containing protein; Myc-induced SUN-domain-containing protein; NOL1/NOP2/Sun domain family 2; NOL1/NOP2/Sun domain family member 2; NOL1/NOP2/Sun domain family, member 2; NOP2/Sun domain family, member 2; NOP2/Sun RNA methyltransferase family, member 2; RNA cytosine C(5)-methyltransferase NSUN2; Substrate of AIM1/Aurora kinase B; tRNA (cytosine(34)-C(5))-methyltransferase; tRNA (cytosine-5-)-methyltransferase NSUN2; tRNA cytosine C(5)-methyltransferase; tRNA methyltransferase 4 homolog
Gene Aliases: D13Wsu123e; MISU; MRT5; NSUN2; SAKI; TRM4