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Literature summary for 2.1.1.203 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
Search for more literature for 2.1.1.203

Cloned(Commentary)

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

Protein Variants

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Mus musculus
-
-
-

Source Tissue

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 and Products (Substrate)

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

Synonyms Comment Organism
NSUN2
-
 Mus musculus
NSUN2
-
 Homo sapiens

General Information

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