NOL1/NOP2/Sun Domain Family, Member 2 (NSUN2) Antibody – Rabbit Polyclonal

This gene encodes 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. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]

NSUN2: an RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. Not able to modify tRNAs at positions 48 or 49. May act downstream of Myc to regulate epidermal cell growth and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity. Interacts with NPM1 and NCL during interphase. Concentrated in the nucleolus during interphase and translocates to the spindle during mitosis as an RNA-protein complex that includes 18S ribosomal RNA. Defects in NSUN2 are the cause of mental retardation autosomal recessive type 5 (MRT5), a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Belongs to the methyltransferase superfamily. RsmB/NOP family. TRM4 subfamily. Two human isoforms produced by alternative splicing.

Protein type: Methyltransferase; Nucleolus; RNA-binding; EC 2.1.1.203

Chromosomal Location of Human Ortholog: 5p15.31

Cellular Component: cytoplasm; nucleolus; spindle; nucleus

Molecular Function: tRNA (cytosine-5-)-methyltransferase activity; tRNA binding

Biological Process: mitosis; cell division; tRNA methylation

Disease: Mental Retardation, Autosomal Recessive 5