Uses
Neurofibromin 2 (NF2) encodes the protein Merlin, which belongs to Ezrin/Radixin/Moesin (ERM) family of proteins. NF2 is a cytoskeletal protein involved in stabilization of microtubules. NF2 has four-point-one, ezrin, radixin, moesin (FERM) domain in the N-terminal, a coiled-coil domain, and does not contain C-terminal actin-binding motif like other ERM proteins. In human chromosome, the gene NF2 is localized on 22q12.2
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.
Biological Activity
Neurofibromin 2 (NF2) is a tumour suppressor. NF2 translocates to nucleus and binds to CRL4DCAF1 (Cullin Ring E3 ubiquitin ligase cullin 4 (CRL4) DDB1 (DNA damage binding protein 1) and CUL4 (cullin 4) associated factor 1 (DCAF1)) and suppresses tumour growth. The gene NF2 is inactivated in the familial neurofibromatosis type 2 cancer syndrome. Mutations of NF2 is associated with multiple tumours like Schwannomas, meningiomas, and malignant mesotheliomas. NF2 regulates Hippo signalling pathway and further activates yes associated protein 1 (YAP-1) and modulates cell growth in neurofibromatosis 2. Molecular modifications in NF2 gene leads to liver cancer through the involvement of Hippo pathway of pathogenesis. Polymorphism in NF2 is related to medulloblastoma.
