Location [1]
Protein [2]
Synonyms [1]
SCH, ACN, merlin-1, BANF

Neurofibromin 2 (NF2) is a gene that encodes a protein that functions in connecting cytoskeletal components with cell-surface proteins, cytoskeletal proteins, and ion transport proteins. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as meningeal cancer, pleural cancer, and soft tissue cancer.

NF2 is altered in 2.02% of all cancers with meningioma, lung adenocarcinoma, breast invasive ductal carcinoma, bladder urothelial carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

NF2 GENIE Cases - Top Diseases

The most common alterations in NF2 are NF2 Mutation (1.22%), NF2 Nonsense (0.48%), NF2 Amplification (0.16%), NF2 Loss (0.15%), and NF2 R262* (0.04%) [3].

NF2 GENIE Cases - Top Alterations

Significance of NF2 in Diseases

Schwannoma +

Meningioma +

Malignant Solid Tumor +

Malignant Pleural Mesothelioma +

Malignant Mesothelioma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Melanoma +

Bladder Carcinoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Low Grade Glioma +

Cancer +

Glioblastoma +

Diffuse Glioma +

Astrocytic Tumor +

Sarcoma +

Head And Neck Carcinoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Anaplastic Astrocytoma +

Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Dysembryoplastic Neuroepithelial Tumor +

Gangliocytoma +

Ganglioglioma +

Low-Grade Neuroepithelial Tumor, NOS +

Multiple Myeloma +

Neurofibromatosis Type 2 +

Neuronal And Mixed Neuronal-Glial Tumors +

Peritoneal Malignant Mesothelioma +

Pilocytic Astrocytoma +

Pilomyxoid Astrocytoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.