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NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

Gene ID: 4771, updated on 26-Mar-2023
Gene type: protein coding
Also known as: ACN; SCH; BANF; merlin-1


This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association study of carotid atherosclerosis in HIV-infected men.
GeneReviews: Not available
Familial meningiomaSee labs
Neurofibromatosis, type 2
MedGen: C0027832OMIM: 101000GeneReviews: Neurofibromatosis 2
See labs
Schwannomatosis 1
MedGen: C4048809OMIM: 162091GeneReviews: Schwannomatosis
See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2020-09-08)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-08)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 22; NC_000022.11 (29603556..29698600)
Total number of exons:


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