histone-lysine N-methyltransferase NSD2 (nuclear SET domain-containing protein 2, Wolf-Hirschhorn syndrome candidate 1 protein, multiple myeloma SET domain-containing protein, protein trithorax-5, WHSC1, KIAA1090, MMSET, NSD2, TRX5)

Function

• histone methyltransferase
• transcription regulator that binds DNA & suppresses IL5 transcription

S-adenosyl-L-methionine + histone L-lysine
             <-->
S-adenosyl-L-homocysteine + histone 6-N-methyl-L-lysine

Structure

• belongs to the histone-lysine methyltransferase family, SET2 subfamily.
• contains 1 AWS domain
  • contains 1 HMG box DNA-binding domain
  • contains 4 PHD-type zinc fingers
  • contains 1 post-SET domain
  • contains 2 PWWP domains
  • contains 1 SET domain

Compartment

• nucleus
• isoform 4: cytoplasm

Alternative splicing

named isoforms=7

Expression

widely expressed

Pathology

• chromosomal translocation t(4;14)(p16.3;q32.3) involving WHSC1 with IgH is a cause of multiple myeloma
• chromosomal aberration involving WHSC1 is a cause of Wolf-Hirschhorn syndrome

More general terms

• histone N-methyltransferase
• zinc finger protein
• SET domain-containing protein

Database

• OMIM: https://mirror.omim.org/entry/194190
• OMIM: https://mirror.omim.org/entry/602952
• UniProt: http://www.uniprot.org/uniprot/O96028.html