NSUN2

NOP2/Sun domain family, member 2 is a is_associated_with::protein that in humans is encoded by the NSUN2 is_associated_with::gene. Alternatively spliced transcript variants encoding different isoforms have been noted for the gene.

Function
The protein is a is_associated_with::methyltransferase that catalyzes the methylation of is_associated_with::cytosine to is_associated_with::5-methylcytosine (m5C) at position 34 of intron-containing is_associated_with::tRNA (Leu)(CAA) precursors. This modification is necessary to stabilize the is_associated_with::anticodon-is_associated_with::codon pairing and correctly translate the is_associated_with::mRNA.

Clinical relevance
Mutations in this gene have been found associated to cases of Dubowitz-like syndrome.

Model organisms
is_associated_with::Model organisms have been used in the study of NSUN2 function. A conditional is_associated_with::knockout mouse line, called Nsun2tm1a(EUCOMM)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty eight tests were carried out on is_associated_with::mutant mice and fourteen significant abnormalities were observed. Homozygous mutants were is_associated_with::subviable and had decreased body weights, length of long bones and decreased circulating glucose levels, numerous abnormal body composition, X-ray imaging, eye morphology and haematology parameters; males also had a decreased grip strength, a short upturned snout, and abnormal is_associated_with::indirect calorimetry and plasma chemistry parameters. Males (but not females) were also infertile. In addition, is_associated_with::heterozygote mutants displayed premature hair follicle exogen.