NF2
Chr 22ADNF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Also known as: ACN, BANF, SCH, SWNV, merlin-1
The protein regulates contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling by linking cytoskeletal components with cell membrane proteins. Mutations cause neurofibromatosis type II, an autosomal dominant disorder characterized by nervous system and skin tumors and ocular abnormalities, as well as schwannomatosis and meningiomas. The pathogenic mechanism involves disruption of the protein's tumor suppressor function, leading to loss of growth control and subsequent tumorigenesis.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NF2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR)
RECRUITINGGene Therapy for Neurofibromatosis Type 2 (NF2) with ST002
NOT YET RECRUITINGPrevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGFamilial Investigations of Childhood Cancer Predisposition
RECRUITINGA Phase 1 Clinical Study of NXP900 in Subjects With Advanced Cancers
RECRUITINGVismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas
RECRUITINGTargeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial)
ACTIVE NOT RECRUITINGNew Preclinical and Clinical Approaches to Mesothelioma
RECRUITINGA Study of Avutometinib for People With Solid Tumor Cancers
RECRUITINGMElanoma Research Lymph Node Prediction Implementation National_001
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools