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NSD2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NSD2 gene

The NSD2 gene provides instructions for proteins that regulate gene activity through histone modification, playing a key role in development and certain cancers.

Normal Function

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 and 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.

Health Conditions Related to Genetic Changes

Wolf-Hirschhorn syndrome

The NSD2 gene is located in a region of chromosome 4 that is deleted in people with Wolf-Hirschhorn syndrome. The features of this condition include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.

As a result of this deletion, affected individuals are missing one copy of the NSD2 gene in each cell. A loss of the NSD2 gene probably disrupts the regulation of several other genes. Research shows that abnormal gene regulation during development contributes to some of the features of Wolf-Hirschhorn syndrome.

Cancers

A chromosomal rearrangement (translocation) involving the NSD2 gene has been associated with multiple myeloma, a cancer that starts in bone marrow cells. This rearrangement is found in 15 to 20 percent of all multiple myelomas. The translocation abnormally fuses the NSD2 gene on chromosome 4 with part of another gene on chromosome 14. The fusion of these genes overactivates the NSD2 gene, which appears to promote the uncontrolled growth and division of cancer cells.

Other Names for This Gene

  • 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

Frequently Asked Questions

Because NSD2 loss is linked to Wolf‑Hirschhorn syndrome, a multidisciplinary approach is advised. Early developmental therapy, speech and occupational therapy, regular neuro‑imaging if seizures are present, and growth monitoring are typical. Genetic counseling can help families understand recurrence risks and discuss future family planning.
Current therapies do not replace or correct the NSD2 gene itself. Management focuses on treating symptoms—such as seizure control, developmental support, and feeding interventions. Gene‑editing research is ongoing but not yet available for clinical use.===
deletion of NSD2 is one of the genetic changes seen in Wolf‑Hirschhorn syndrome. It can contribute to the characteristic facial features, growth delay, intellectual disability, and seizures seen in the syndrome. The deletion alone does not explain all symptoms, but it is a key piece of the puzzle and may guide monitoring for associated complications such as feeding difficulties or cardiac anomalies.
The t(4;14) translocation that fuses NSD2 to the IGH gene is present in about 15‑20 % of multiple myeloma cases. If a patient carries this translocation, they are at higher risk for developing the disease, especially in adulthood. Regular monitoring of blood counts, serum protein electrophoresis, and imaging may help detect early signs of plasma‑cell disorders.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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