Mutant human recombinant NSD2 with alanine (A) substituted for threonine-1150 (T1150). Catalyzes the transfer of methyl groups from S-adenosyl-L-methionine (SAM) to the e-amino function of protein L-lysine residues, specifically lysine-36 of histone H3 (H3K36)1 (see also review2). H4K20 methylation by NSD2 may be linked to double strand breaks and the DNA damage response3, whereas its principal regulatory functions appear to occur via methylation of H3K364,5, a mark associated with active transcription. NSD2 is overexpressed in multiple myelomas with the t(4;14) translocation6. NSD2 knockdown in such cells induces apoptosis4, while overexpression of catalytically active NSD2 promotes oncogenic transformation and tumor formation even in the absence of the translocation5. In addition to t(4;14)+ multiple myelomas, NSD2 expression is elevated in a variety of cancers (bladder7,8, breast7, prostate7, kidney7, lung7,8, pancreas7, colon8, stomach8, anal canal8, female genitals8, skin8, neuroblastoma9) and its carcinogenic effects may be mediated by interaction with ß-catenin and effects on the WNT pathway7. The T1150A mutation, along with E1099K, a prevalent mutation in pediatric acute lymphoblastic leukemia (ALL)10,11, are found recurrently in mantle cell lymphomas (MCL)12. A truncated E1099K construct (residues 955-1365) has been reported to exhibit elevated methylation activity toward nucleosomes in vitro11 and the same appears to be the case with full-length NSD2-T1150A.
ACCESSION #: NM_001042424
INCLUDES AMINO ACIDS: 934-1241; contains wild-type residues 934-1149, 1151-1241
TAG(S): N-terminal His-tag
MW: 37.4 kDa
EXPRESSION SYSTEM: E. coli
SUPPLIED AS: __ µM NSD2-T1150A-SET (__ µg/µl total protein) in 50 mM Tris/HCl pH 7.5, 500 mM NaCl, 1 mM TCEP, 10% glycerol (v/v).
STORAGE: -70°C. Thaw quickly and store on ice before use. The remaining, unused, undiluted enzyme should be snap frozen, for example in a dry/ice ethanol bath or liquid nitrogen. Minimize freeze/thaws if possible, but very low volume aliquots (<5 µl) or storage of diluted enzyme is not recommended.
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