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Genetics Home Reference: your guide to understanding genetic conditions
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NF2

Reviewed March 2007

What is the official name of the NF2 gene?

The official name of this gene is “neurofibromin 2 (merlin).”

NF2 is the gene's official symbol. The NF2 gene is also known by other names, listed below.

What is the normal function of the NF2 gene?

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 that wrap around and insulate nerves (Schwann cells).

Merlin is believed to play a role in controlling cell shape, cell movement, and communication between cells. To carry out these tasks, merlin associates with the internal framework that supports the cell (the cytoskeleton). Merlin also functions as a tumor suppressor protein, which prevents cells from growing and dividing too fast or in an uncontrolled way.

How are changes in the NF2 gene related to health conditions?

neurofibromatosis type 2 - caused by mutations in the NF2 gene

More than 200 mutations in the NF2 gene have been identified in people with neurofibromatosis type 2. These mutations are often inherited from an affected parent and occur in all of the body's cells. About 90 percent of NF2 mutations result in an abnormally shortened version of the merlin protein. This short protein cannot perform its normal tumor suppressor function in cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form noncancerous tumors. The most common tumors in neurofibromatosis type 2 are vestibular schwannomas, which develop along the nerve that carries information from the inner ear to the brain. Other tumors affecting the nervous system also occur in people with this condition.

tumors - associated with the NF2 gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are known as somatic mutations, are not inherited. Somatic mutations in the NF2 gene are involved in the development of several types of tumors, both noncancerous (benign) and cancerous (malignant).

Somatic mutations in the NF2 gene have been associated with a disorder called schwannomatosis that is similar to neurofibromatosis type 2. This condition is characterized by the development of multiple noncancerous tumors called schwannomas. These tumors may develop in nerves throughout the body; however, people with schwannomatosis do not develop the vestibular schwannomas characteristic of neurofibromatosis type 2. Although NF2 mutations are commonly found in tumors in people with schwannomatosis, researchers do not believe that these mutations cause the disorder. Scientists are working to identify other genetic changes that are responsible for the development of these tumors.

Loss or inactivation of the NF2 gene is also associated with a common type of brain or spinal cord tumor called a meningioma. These tumors form in the meninges, which are the thin layers of tissue that cover and protect the brain and spinal cord. Most meningiomas are benign; only a very small percentage of meningiomas become malignant.

Mesotheliomas are cancerous tumors that can arise in the lining of the lung and chest cavity (pleura) or the lining of the abdomen (peritoneum). These aggressive tumors are often associated with long-term exposure to asbestos. Researchers have determined that loss or inactivation of the NF2 gene occurs in approximately half of all cases of mesothelioma.

Where is the NF2 gene located?

Cytogenetic Location: 22q12.2

Molecular Location on chromosome 22: base pairs 29,603,555 to 29,698,599

The NF2 gene is located on the long (q) arm of chromosome 22 at position 12.2.

The NF2 gene is located on the long (q) arm of chromosome 22 at position 12.2.

More precisely, the NF2 gene is located from base pair 29,603,555 to base pair 29,698,599 on chromosome 22.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about NF2?

You and your healthcare professional may find the following resources about NF2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the NF2 gene or gene products?

  • MERL_HUMAN
  • merlin
  • Moesin-Ezrin-Radixin-Like Protein
  • Neurofibromatosis 2 Gene Product
  • Neurofibromatosis Type 2 Protein
  • Neurofibromin 2
  • neurofibromin 2 (bilateral acoustic neuroma)
  • SCH
  • Schwannomerlin
  • Schwannomin

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding NF2?

benign ; bilateral ; cell ; cytoskeleton ; gene ; gene product ; inherited ; meninges ; meningioma ; nervous system ; neuroma ; peritoneum ; pleura ; protein ; Schwann cells ; tissue ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ahronowitz I, Xin W, Kiely R, Sims K, MacCollin M, Nunes FP. Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Hum Mutat. 2007 Jan;28(1):1-12. (http://www.ncbi.nlm.nih.gov/pubmed/16983642?dopt=Abstract)
  • Baser ME, Friedman JM, Evans DG. Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 2006 Mar 14;66(5):730-2. (http://www.ncbi.nlm.nih.gov/pubmed/16534111?dopt=Abstract)
  • Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Gillespie JE, Ramsden RT, Evans DG. Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet. 2004 Aug;75(2):231-9. Epub 2004 Jun 9. (http://www.ncbi.nlm.nih.gov/pubmed/15190457?dopt=Abstract)
  • Baser ME; Contributors to the International NF2 Mutation Database. The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene. Hum Mutat. 2006 Apr;27(4):297-306. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16521120?dopt=Abstract)
  • Buckley PG, Mantripragada KK, Díaz de Ståhl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Ernberg IT, Nordenskjöld M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, Grigelionis G, Menzel U, Dumanski JP. Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat. 2005 Dec;26(6):540-9. (http://www.ncbi.nlm.nih.gov/pubmed/16287142?dopt=Abstract)
  • Gutmann DH. The neurofibromatoses: when less is more. Hum Mol Genet. 2001 Apr;10(7):747-55. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11257108?dopt=Abstract)
  • Hanemann CO, Evans DG. News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol. 2006 Dec;253(12):1533-41. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17219030?dopt=Abstract)
  • Hirokawa Y, Tikoo A, Huynh J, Utermark T, Hanemann CO, Giovannini M, Xiao GH, Testa JR, Wood J, Maruta H. A clue to the therapy of neurofibromatosis type 2: NF2/merlin is a PAK1 inhibitor. Cancer J. 2004 Jan-Feb;10(1):20-6. (http://www.ncbi.nlm.nih.gov/pubmed/15000491?dopt=Abstract)
  • Ikeda T, Hashimoto S, Fukushige S, Ohmori H, Horii A. Comparative genomic hybridization and mutation analyses of sporadic schwannomas. J Neurooncol. 2005 May;72(3):225-30. (http://www.ncbi.nlm.nih.gov/pubmed/15937644?dopt=Abstract)
  • Lusis E, Gutmann DH. Meningioma: an update. Curr Opin Neurol. 2004 Dec;17(6):687-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15542977?dopt=Abstract)
  • MacCollin M, Willett C, Heinrich B, Jacoby LB, Acierno JS Jr, Perry A, Louis DN. Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 2003 Jun 24;60(12):1968-74. (http://www.ncbi.nlm.nih.gov/pubmed/12821741?dopt=Abstract)
  • Musti M, Kettunen E, Dragonieri S, Lindholm P, Cavone D, Serio G, Knuutila S. Cytogenetic and molecular genetic changes in malignant mesothelioma. Cancer Genet Cytogenet. 2006 Oct 1;170(1):9-15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16965949?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4771)
  • Ramesh V. Merlin and the ERM proteins in Schwann cells, neurons and growth cones. Nat Rev Neurosci. 2004 Jun;5(6):462-70. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15152196?dopt=Abstract)
  • Reed N, Gutmann DH. Tumorigenesis in neurofibromatosis: new insights and potential therapies. Trends Mol Med. 2001 Apr;7(4):157-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11286939?dopt=Abstract)
  • Ruttledge MH, Rouleau GA. Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system. Neurosurg Focus. 2005 Nov 15;19(5):E6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16398470?dopt=Abstract)
  • Uppal S, Coatesworth AP. Neurofibromatosis type 2. Int J Clin Pract. 2003 Oct;57(8):698-703. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14627181?dopt=Abstract)
  • Xiao GH, Chernoff J, Testa JR. NF2: the wizardry of merlin. Genes Chromosomes Cancer. 2003 Dec;38(4):389-99. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14566860?dopt=Abstract)
  • Yohay KH. The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 2006 Mar;13(1):21-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16818172?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2007
Published: July 21, 2014