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Gene Ontology Classifications
neurofibromatosis 2

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GO curators for mouse genes have assigned the following annotations to the gene product of Nf2. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of January 19, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Claudio JO et al. (1995) Widespread but cell type-specific expression of the mouse neurofibromatosis type 2 gene. Neuroreport, 6:1942-6. (PubMed:8547603)
  2. Giovannini M et al. (2000) Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Dev, 14:1617-30. (PubMed:10887156)
  3. Kissil JL et al. (2003) Merlin, the product of the Nf2 tumor suppressor gene, is an inhibitor of the p21-activated kinase, Pak1. Mol Cell, 12:841-9. (PubMed:14580336)
  4. Lallemand D et al. (2003) NF2 deficiency promotes tumorigenesis and metastasis by destabilizing adherens junctions. Genes Dev, 17:1090-100. (PubMed:12695331)
  5. Lavado A et al. (2013) Tumor suppressor Nf2 limits expansion of the neural progenitor pool by inhibiting Yap/Taz transcriptional coactivators. Development, 140:3323-34. (PubMed:23863479)
  6. Lendahl U. (1998) A growing family of Notch ligands. Bioessays, 20:103-7. (PubMed:9631655)
  7. Li W et al. (2014) Merlin/NF2 loss-driven tumorigenesis linked to CRL4(DCAF1)-mediated inhibition of the hippo pathway kinases Lats1 and 2 in the nucleus. Cancer Cell, 26:48-60. (PubMed:25026211)
  8. Lim JY et al. (2006) Merlin inhibits growth hormone-regulated Raf-ERKs pathways by binding to Grb2 protein. Biochem Biophys Res Commun, 340:1151-7. (PubMed:16405865)
  9. McClatchey AI et al. (1998) Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev, 12:1121-33. (PubMed:9553042)
  10. McClatchey AI et al. (1997) The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev, 11:1253-65. (PubMed:9171370)
  11. Serinagaoglu Y et al. (2015) Nf2-Yap signaling controls the expansion of DRG progenitors and glia during DRG development. Dev Biol, 398:97-109. (PubMed:25433207)
  12. Shaw RJ et al. (1998) Localization and functional domains of the neurofibromatosis type II tumor suppressor, merlin. Cell Growth Differ, 9:287-96. (PubMed:9563848)
  13. Shollar D et al. (2004) JCV T-antigen interacts with the neurofibromatosis type 2 gene product in a transgenic mouse model of malignant peripheral nerve sheath tumors. Oncogene, 23:5459-67. (PubMed:15133494)
  14. Wiederhold T et al. (2004) Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2. Oncogene, 23:8815-25. (PubMed:15467741)
  15. Wiley LA et al. (2010) The tumor suppressor merlin is required for cell cycle exit, terminal differentiation, and cell polarity in the developing murine lens. Invest Ophthalmol Vis Sci, 51:3611-8. (PubMed:20181838)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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