NF2 Chromosome 22
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
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What This Gene Does
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]
Gene Info
Gene Group
"A-kinase anchoring proteins|FERM domain containing"
Locus Type
gene with protein product
Location
22q12.2
Ensembl
ENSG00000186575
Associated Conditions (20)
Neurofibromatosis
type 2
Hereditary cancer-predisposing syndrome
SMARCB1-related schwannomatosis
Familial meningioma
Acoustic neuroma
NF2-related disorder
Sarcoma
Hereditary cancer
Familial cancer of breast
Malignant tumor of breast
Meningioma
Ependymoma
Clear cell carcinoma of kidney
Inborn genetic diseases
Mesothelioma
Cervical cancer
Neoplasm
Cholangiocarcinoma
Spindle cell sarcoma
Key Variants
RS1028670573
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1049732514
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503669
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503671
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Familial meningioma
Health Risk
RS1060503674
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1060504990
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1157713907
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1169276398
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1182896077
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
RS121434260
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, SMARCB1-related schwannomatosis
Health Risk
RS121434261
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Acoustic neuroma
Health Risk
RS1255367068
Conflicting classifications of pathogenicity
Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (341)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2146966216 | Health Risk | Likely pathogenic | SMARCB1-related schwannomatosis, Neurofibromatosis, type 2 |
| RS2146990961 | Health Risk | Likely pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS2147084279 | Health Risk | Likely pathogenic | Neurofibromatosis, type 2, SMARCB1-related schwannomatosis |
| RS2147107697 | Health Risk | Likely pathogenic | Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome |
| RS2518225830 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2518556881 | Health Risk | Likely pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS2518623181 | Health Risk | Likely pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS2518679943 | Health Risk | Likely pathogenic | SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis |
| RS2518709539 | Health Risk | Likely pathogenic | Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome |
| RS2518734000 | Health Risk | Likely pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS2518734591 | Health Risk | Likely pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1006294051 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1026724985 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1060503666 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1060503667 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1060503670 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1064796632 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neoplasm |
| RS1181051479 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS121434259 | Health Risk | Pathogenic | Meningioma, Neurofibromatosis, type 2 |
| RS1302428933 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1303879665 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1350177470 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1350618734 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1418675250 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS149803133 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555978356 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1555986860 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1555992948 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome |
| RS1555993313 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1555993336 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome |
| RS1555993345 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome |
| RS1555994819 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1555994854 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Cholangiocarcinoma |
| RS1555996156 | Health Risk | Pathogenic | — |
| RS1555998851 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1556000842 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1556001351 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1556002457 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1556003799 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome |
| RS1569293373 | Health Risk | Pathogenic | Neoplasm, Neoplasm |
| RS1569293488 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1569294187 | Health Risk | Pathogenic | Spindle cell sarcoma, Spindle cell sarcoma |
| RS1569295916 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1569302393 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1569304774 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1601515836 | Health Risk | Pathogenic | — |
| RS1601515970 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1601579095 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |
| RS1601583839 | Health Risk | Pathogenic | SMARCB1-related schwannomatosis, Neurofibromatosis, type 2 |
| RS1601611973 | Health Risk | Pathogenic | Neurofibromatosis, type 2, Neurofibromatosis |