The NSD2 gene provides instructions for making at least three very similar proteins known as MMSET I, MMSET II, and RE-IIBP. These proteins are active both before and after birth in many of the body’s cells and tissues. They appear to play an important role in normal development.
At least two of the proteins produced from the NSD2 gene, MMSET II and RE-IIBP, likely help regulate the activity of other genes. Studies suggest that these proteins function as histone methyltransferases, which are enzymes that modify proteins called histones. By adding a molecule called a methyl group to histones, histone methyltransferases can turn off (suppress) the activity of certain genes. Scientists are working to identify the genes targeted by the MMSET II and RE-IIBP proteins.
Other Names
FLJ23286; IL5 promoter REII region-binding protein; KIAA1090; MGC176638; MMSET; multiple myeloma SET domain protein; NSD2_HUMAN; Nuclear SET domain-containing protein 2; Probable histone-lysine N-methyltransferase NSD2; Protein trithorax-5; REIIBP; trithorax/ash1-related protein 5; TRX5; WHSC1; Wolf-Hirschhorn syndrome candidate 1
Related Genetics Topics
Identifiers
- NCBI Gene: 7468
- OMIM: 254500
- OMIM: 602952
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
