NSD2-E1099K is a mutant human recombinant NSD2 with lysine (K) substituted for glutamate-1099 (E1099) and expressed in Sf9 insect cells. NSD2 is a SET-domain lysine methyltransferase that exerts regulatory effects primarily through methylation of H3K36, a mark associated with gene activation. NSD2 may also act as an H4K20 methyltransferase as part of a DNA damage response.Notable for its role in the genesis of t(4; 14) translocation-positive multiple myelomas, NSD2 is also overexpressed in a wide range of human cancers, including breast, lung and colon cancers. Like cells in which translocations drive NSD2 overexpression, tumor lines bearing an NSD2-E1099K mutant allele display elevated levels of H3K36 dimethylation. A truncated, SET-domain E1099K construct (residues 955-1365) has been reported to exhibit higher methylation activity toward nucleosomes in vitro. Although observed in other cancers, the E1099K mutation appears to be most prevalent in pediatric acute lymphoblastic leukemia (ALL), the most common childhood cancer. Knockdown of NSD2-E1099K in ALL lines inhibits proliferation, implicating, as in the other cancers mentioned above, NSD2 as a promising therapeutic target in ALL.

SUPPLIED AS: Solution of purified recombinant protein in 50 mM Tris/HCl pH 7.5, 500 mM NaCl, 1 mM TCEP, 10% glycerol (v/v).

STORAGE: -80°C, aliquot and snap-freeze after first use.