Cloned (Comment) | Organism |
---|---|
expression of wild-type and mutant enzymes in HCC1954 cells and in COS7 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G679R | site-directed mutaegensis, the mutation to arginine at this residue causes NSUN2 to fail to localize within the nucleolus | Homo sapiens |
K190M | site-directed mutagenesis | Mus musculus |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
S-adenosyl-L-methionine + cytosine34 in tRNA precursor | Mus musculus | - |
S-adenosyl-L-homocysteine + 5-methylcytosine34 in tRNA precursor | - |
? | |
S-adenosyl-L-methionine + cytosine34 in tRNA precursor | Homo sapiens | - |
S-adenosyl-L-homocysteine + 5-methylcytosine34 in tRNA precursor | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Mus musculus | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Mus musculus | - |
brain | - |
Homo sapiens | - |
cerebellum | NSUN2 localizes to the nucleolus of Purkinje cells in the cerebellum | Mus musculus | - |
cerebellum | NSUN2 localizes to the nucleolus of Purkinje cells in the cerebellum | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
S-adenosyl-L-methionine + cytosine34 in tRNA precursor | - |
Mus musculus | S-adenosyl-L-homocysteine + 5-methylcytosine34 in tRNA precursor | - |
? | |
S-adenosyl-L-methionine + cytosine34 in tRNA precursor | - |
Homo sapiens | S-adenosyl-L-homocysteine + 5-methylcytosine34 in tRNA precursor | - |
? |
Synonyms | Comment | Organism |
---|---|---|
NSUN2 | - |
Mus musculus |
NSUN2 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | in mice, a Nsun2 knockout, ablation of Nsun2 through the deletion of exon 8, leads to the gross small-size phenotype indicating weight loss with 30% reduction at 3 months old, and partial alopecia at about 10 months old, suggesting a role for NSUN2 in skin homeostasis. Nsun2-/- males are sterile. Heterozygous mice appear normal and have no visible phenotype | Mus musculus |
malfunction | mutation G679R causes NSUN2 to fail to localize within the nucleolus. NSUN2, besides other RNA-methyltransferase-encoding genes, is involved in neurological disorders like intellectual disability, also called mental retardation, phenotypes, overview | Homo sapiens |
physiological function | NSUN2 encodes a methyltransferase that catalyzes the intron-dependent formation of 5-methylcytosine at C34 of tRNA-leu(CAA). It also functions in spindle assembly during mitosis as well as chromosome segregation | Mus musculus |
physiological function | NSUN2 encodes a methyltransferase that catalyzes the intron-dependent formation of 5-methylcytosine at C34 of tRNA-leu(CAA). It also functions in spindle assembly during mitosis as well as chromosome segregation | Homo sapiens |