NSUN2 gene

NOP2/Sun RNA methyltransferase family member 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors. 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.

From NCBI Gene:

  • Mental retardation, autosomal recessive 5

From UniProt:

Mental retardation, autosomal recessive 5 (MRT5): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:611091]

Cytogenetic Location: 5p15.31, which is the short (p) arm of chromosome 5 at position 15.31

Molecular Location: base pairs 6,599,239 to 6,633,360 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5p15.31, which is the short (p) arm of chromosome 5 at position 15.31
  • MISU
  • MRT5
  • SAKI
  • TRM4