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Symbol NF2 contributors: mct/shn - updated : 11-12-2016
HGNC name neurofibromin 2
HGNC id 7773
corresponding disease(s) NF2 , SCWT
related resource Neurofibromatosis Type II
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in ependymomas
tumoral mosaic      
in bilateral vestibular schwannomas
tumoral     --over  
in endometrial cancer metastasis
tumoral       loss of function
in meningioma, acoustic neurinoma
tumoral   deletion    
in the developing liver leads to a rapid and dramatic expansion of liver progenitor cells throughout the liver, and subsequently to the development of CC and metastatic hepatocellular carcinoma
tumoral somatic mutation      
associated with germinal SMARCB1 mutations in familial multiple meningiomas
tumoral       loss of function
of NF2, NIPSNAP1, UGT2B17, and LPIN2 genes during progression of a prostate epithelial cell line to a malignant metastatic state
Variant & Polymorphism
Candidate gene
Therapy target
ErbB2 inhibitors and Src kinase inhibitors in clinical studies for the treatment of breast cancer and myelogenous leukemia may prove beneficial for the treatment of tumors characterized by merlin loss of function
  • Nf2 hemizygous mice do not develop schwannomas but mainly osteosarcomas
  • conditional homozygous Nf2 knockout mice showed characteristics of neurofibromatosis type 2 including schwannomas, Schwann cell hyperplasia, cataract, and osseous metaplasia
  • Mice with conditional deletion of exon 2 in Schwann cells develop schwannomas
  • Nf2 deficiency in primary cells is an inability to undergo contact-dependent growth arrest and to form stable cadherin-containing cell:cell junctions