Histone-lysine N-methyltransferase NSD2

Gene:

NSD2 Enzyme: EC 2.1.1.357 This enzyme has known catalytic activity involved in reaction: L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-homocysteine + 2 H(+) Disease Rauch-Steindl syndrome: An autosomal dominant disorder characterized by poor pre- and postnatal growth, facial dysmorphism, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual. Other features may include hypotonia and behavioral abnormalities... [click for more]

Organism:

Homo sapiens (Human)

Synonyms:

KIAA1090, MMSET, TRX5, WHSC1

Uniprot:

O96028go to UniProt

Biological function:

Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:22099308). Methylation of histone H3 at 'Lys-27' is controversial (PubMed:18172012, PubMed:22099308). Mono-, di- or tri-methylates histone H3 at 'Lys-27' (H3K27me, H3K27me2 and H3K27me3) (PubMed:18172012). Does not methylate histone H3 at 'Lys-27' (PubMed:22099308). May act ... [show more]go to UniProt

Representative structures for UniProt O96028

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PDB 9exw chain B (observed residues)
PDB 9exw chain B (observed residues)
PDB 9exw chain B (observed residues)
PDB 9exw chain B (observed residues)
PDB 7cro chain K (observed residues)
PDB 7cro chain K (observed residues)

PDB chain shown: 9exw B go to PDBe

UniProt residues 208 - 368

Coverage: 9%

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13
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78
Publications

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