Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary extracted from

  • Khan, M.A.; Rafiq, M.A.; Noor, A.; Hussain, S.; Flores, J.V.; Rupp, V.; Vincent, A.K.; Malli, R.; Ali, G.; Khan, F.S.; Ishak, G.E.; Doherty, D.; Weksberg, R.; Ayub, M.; Windpassinger, C.; Ibrahim, S.; Frye, M.; Ansar, M.; Vincent, J.B.
    Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability (2012), Am. J. Hum. Genet., 90, 856-863.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.1.1.203 expression of wild-type and mutant enzymes in HCC1954 cells and in COS7 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.1.1.203 G679R site-directed mutaegensis, the mutation to arginine at this residue causes NSUN2 to fail to localize within the nucleolus Homo sapiens
2.1.1.203 K190M site-directed mutagenesis Mus musculus

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.1.1.203 S-adenosyl-L-methionine + cytosine34 in tRNA precursor Mus musculus
-
 S-adenosyl-L-homocysteine + 5-methylcytosine34 in tRNA precursor
-
 ?
2.1.1.203 S-adenosyl-L-methionine + cytosine34 in tRNA precursor Homo sapiens
-
 S-adenosyl-L-homocysteine + 5-methylcytosine34 in tRNA precursor
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.1.1.203 Homo sapiens
-
-
-
2.1.1.203 Mus musculus
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.1.1.203 brain
-
 Mus musculus
-
2.1.1.203 brain
-
 Homo sapiens
-
2.1.1.203 cerebellum NSUN2 localizes to the nucleolus of Purkinje cells in the cerebellum Mus musculus
-
2.1.1.203 cerebellum NSUN2 localizes to the nucleolus of Purkinje cells in the cerebellum Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.1.1.203 S-adenosyl-L-methionine + cytosine34 in tRNA precursor
-
 Mus musculus S-adenosyl-L-homocysteine + 5-methylcytosine34 in tRNA precursor
-
 ?
2.1.1.203 S-adenosyl-L-methionine + cytosine34 in tRNA precursor
-
 Homo sapiens S-adenosyl-L-homocysteine + 5-methylcytosine34 in tRNA precursor
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.1.1.203 NSUN2
-
 Mus musculus
2.1.1.203 NSUN2
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.1.1.203 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
2.1.1.203 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
2.1.1.203 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
2.1.1.203 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