Aliases for NF2 Gene
External Ids for NF2 Gene
Previous GeneCards Identifiers for NF2 Gene
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]
GeneCards Summary for NF2 Gene
NF2 (Neurofibromin 2) is a Protein Coding gene. Diseases associated with NF2 include Neurofibromatosis, Type Ii and Schwannomatosis 1. Among its related pathways are Signaling by GPCR and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is EZR.
UniProtKB/Swiss-Prot Summary for NF2 Gene
Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.