Overview

Location [1]
22q12.2
Protein [2]
Merlin
Synonyms [1]
ACN, BANF, SCH

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 2.20% of all cancers with non-small cell lung carcinoma, breast carcinoma, meningioma, malignant mesothelioma, and renal cell carcinoma having the greatest prevalence of alterations [3].

NF2 GENIE Cases - Top Diseases

The most common alterations in NF2 are NF2 Mutation (1.82%), NF2 Nonsense (0.56%), NF2 Frameshift (0.39%), NF2 Amplification (0.15%), and NF2 Loss (0.13%) [3].

NF2 GENIE Cases - Top Alterations

Significance of NF2 in Diseases

Schwannoma +

Meningioma +

Malignant Solid Tumor +

Lymphoma +

Multiple Myeloma +

Malignant Mesothelioma +

Malignant Pleural Mesothelioma +

Ovarian Carcinoma +

Melanoma +

Bladder Carcinoma +

Non-Small Cell Lung Carcinoma +

Anaplastic Astrocytoma +

Glioblastoma +

Sarcoma +

Head And Neck Carcinoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Colorectal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Neurofibromatosis Type 2 +

Peritoneal Malignant Mesothelioma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.