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NF2 gene

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

NF2 gene

The NF2 gene provides instructions for producing the protein merlin, a tumor suppressor that regulates cell growth and shape in the nervous system.

Normal Function

The NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves.

Merlin helps regulate several key signaling pathways that are important for controlling cell shape, cell growth, and the attachment of cells to one another (cell adhesion). This protein functions as a tumor suppressor, preventing cells from growing and dividing too fast or in an uncontrolled way.

Health Conditions Related to Genetic Changes

Neurofibromatosis type 2

More than 400 mutations in the NF2 gene have been identified in people with neurofibromatosis type 2, a disorder characterized by the growth of noncancerous (benign) tumors in the nervous system. The most common tumors associated with this condition are bilateral vestibular schwannomas, which develop along the nerves that carry information from the inner ear to the brain. People with neurofibromatosis type 2 can also develop other nervous system tumors, including meningiomas and ependymomas.

The NF2 gene mutations that cause neurofibromatosis type 2 are classified as germline, meaning they are present in all of the body's cells. Most result in an abnormally shortened version of the merlin protein that cannot perform its normal tumor suppressor function.

Schwannomatosis

Noninherited (somatic) mutations in the NF2 gene have been associated with a disorder called schwannomatosis. This condition is characterized by the development of multiple schwannomas that grow on nerves throughout the body. Unlike germline mutations, these somatic mutations occur only in the cells that give rise to the tumors.

Tumors

Somatic mutations in the NF2 gene are involved in the development of several additional types of tumors. Loss or inactivation of the NF2 gene is often associated with isolated nervous system tumors, including meningiomas, ependymomas, and schwannomas. Researchers have also determined that loss or inactivation of the NF2 gene occurs in many cases of mesothelioma, a cancerous tumor that can arise in the lining of the lung and chest cavity (pleura) or the lining of the abdomen (peritoneum).

Other Names for This Gene

  • ACN
  • BANF
  • MERL_HUMAN
  • merlin
  • moesin-ezrin-radixin-like protein
  • SCH
  • schwannomerlin
  • schwannomin

Genomic Location

The NF2 gene is found on chromosome 22.

Frequently Asked Questions

Surveillance should begin in childhood or immediately upon diagnosis to identify tumors before they cause irreversible neurological damage. Standard protocols include annual or biennial brain and full-spine MRIs with gadolinium contrast to screen for vestibular schwannomas, meningiomas, and spinal ependymomas. Patients also require regular audiology evaluations (audiograms and speech discrimination tests) to detect early hearing loss, annual ophthalmology exams to check for retinal hamartomas or early-onset cataracts, and comprehensive clinical neurological exams.
Because merlin deficiency commonly leads to tumors on the eighth cranial nerve, early symptoms often present subtly in late adolescence or early adulthood. Common initial signs include gradual hearing loss in one or both ears, persistent high-pitched ringing or buzzing (tinnitus), and mild balance instability or clumsiness, which is often noticeably worse in low-light environments. As tumors enlarge, patients may also notice facial numbness, muscle twitching, or persistent headaches.
pproximately 50% of individuals with neurofibromatosis type 2 have a de novo (new) mutation, meaning the genetic alteration occurred spontaneously in an egg or sperm cell prior to conception, or very early in embryonic development. When a mutation occurs early in embryonic development, it leads to somatic mosaicism, where only a fraction of your body's cells carry the mutation. People with mosaic NF2 often experience milder symptoms and localized tumors, and they face a lower risk (less than 50%) of passing the condition on to their biological children.
Treatment depends on tumor size, location,
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.