NF2 (NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor) is a protein-coding gene located on chromosome 22q12.2.
NF2 gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
This gene encodes a protein similar to some members of the ERM family (ezrin, radixin, moesin), a family of proteins that link components of the cytoskeleton to proteins in the cell membrane (Pećina-Šlaus N 2013). The encoded protein has been shown to interact with cell surface proteins, proteins involved in cytoskeleton dynamics, and proteins regulating ion transport.
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Mutations in this gene result in an insufficient gene product and are associated with neurofibromatosis type II, which is characterized by tumors of the nervous system and skin and eye abnormalities.
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Likely regulator of the Hippo/SWH (Sav/Wts/Hpo) pathway, a signaling pathway that plays a central role in tumor suppression by limiting proliferation and promoting apoptosis.
May act as a membrane stabilizing protein.
May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulatory activity.
Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.
LiteratureThis section has been translated automatically.
- Hattori S et al (1996) [Heterogeneity of GTPase-activating proteins for Ras in the regulation of Ras signal transduction pathway. Yakugaku Zasshi 116: 21-38.
- Ko JM et al (2013) Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. Pediatr Neurol 48:447-453.
- Pećina-Šlaus N (2013) Merlin, the NF2 gene product. Pathol Oncol Res 19:365-373.
- Sabbagh A et al. (2013) NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat 34:1510-1518.