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EZH2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EZH2 gene

The EZH2 gene provides instructions for making an enzyme that modifies structural proteins to regulate gene activity, a process critical for determining cell fate during development.

Normal Function

The EZH2 gene provides instructions for making a type of enzyme called a histone methyltransferase. Histone methyltransferases modify proteins called histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (methylation), histone methyltransferases can turn off (suppress) the activity of certain genes, an essential process in normal development. Specifically, the EZH2 enzyme forms part of a protein group called the polycomb repressive complex-2. By turning off particular genes, this complex is involved in the process that determines the type of cell an immature cell will ultimately become (cell fate determination).

Health Conditions Related to Genetic Changes

Weaver syndrome

More than 30 EZH2 gene mutations have been identified in people with Weaver syndrome, which involves tall stature, a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin; and a small lower jaw (micrognathia). Some affected individuals have a large head size (macrocephaly). Most of the EZH2 gene mutations associated with Weaver syndrome change single protein building blocks (amino acids) in the EZH2 enzyme; others insert or delete small amounts of genetic material from the EZH2 gene, leading to production of an altered EZH2 enzyme. It is unclear how these EZH2 gene mutations result in the abnormalities characteristic of Weaver syndrome.

Prostate cancer

MedlinePlus Genetics provides information about Prostate cancer.

Cancers

Changes in the EZH2 gene have been associated with various types of cancers. Mutations of this gene have been identified in cancers of blood-forming tissues (lymphomas and leukemias). These mutations are described as "gain-of-function" because they appear to enhance the activity of the EZH2 enzyme or give the enzyme a new, atypical function. In addition, excessive activity (overexpression) of the EZH2 gene has been identified in cancerous tumors of the prostate, breast, and other parts of the body. Changes involving the EZH2 gene likely impair normal control of cell division (proliferation), allowing cells to grow and divide too fast or in an uncontrolled way and leading to the development of cancer.

Other Names for This Gene

  • enhancer of zeste homolog 2 (Drosophila)
  • ENX-1
  • EZH2_HUMAN
  • histone-lysine N-methyltransferase EZH2
  • KMT6
  • KMT6A
  • lysine N-methyltransferase 6

Frequently Asked Questions

Weaver syndrome typically presents with tall stature (often >2 SD above average), macrocephaly, a broad forehead, widely spaced eyes (hypertelorism), low‑set ears, a dimpled chin, and sometimes a small lower jaw (micrognathia). Intellectual disability is usually mild, but developmental delays can occur. These features, combined with a genetic test, confirm the diagnosis.
Research is ongoing into EZH2 inhibitors (e.g., tazemetostat) for cancers with EZH2 overactivity. For Weaver syndrome, no disease‑modifying therapy exists yet, but supportive care (growth monitoring, developmental therapy, orthopedic evaluation) is recommended. Patients may be eligible for clinical trials investigating EZH2‑targeted treatments, especially if they develop malignancies.===
blood or saliva sample is taken for DNA extraction. The EZH2 gene is sequenced using next‑generation sequencing or Sanger sequencing to identify pathogenic variants. If a variant of uncertain significance is found, functional studies or family testing may be pursued.
Current evidence suggests that EZH2 mutations associated with Weaver syndrome do not markedly increase prostate cancer risk. However, EZH2 is a known oncogene in many cancers, so individuals with EZH2 mutations should follow standard cancer screening guidelines and discuss any family history of cancer with their clinician.
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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