Disease-gene associations mined from literature

Literature associating NSUN2 and thiamine-responsive megaloblastic anemia syndrome

NSUN2 [ENSP00000264670]

NOP2/Sun RNA methyltransferase family, member 2; 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.

Synonyms:  NSUN2,  NSUN2p,  hNSUN2,  NSUN2-001,  NSUN2-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM