Written | 2001-02 | James F Gusella |
Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts 02129, USA |
This article is an update of : |
1998-03 | Jean-Loup Huret | |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
1997-09 | Jean-Loup Huret | |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
Identity |
Alias (NCBI) | SCH |
HGNC (Hugo) | NF2 |
HGNC Alias symb | merlin | ACN | SCH | BANF |
HGNC Alias name | moesin-ezrin-radixin like | schwannomin |
HGNC Previous name | neurofibromin 2 (bilateral acoustic neuroma) | neurofibromin 2 (merlin) |
LocusID (NCBI) | 4771 |
Atlas_Id | 117 |
Location | 22q12.2 [Link to chromosome band 22q12] |
Location_base_pair | Starts at 29603556 and ends at 29698600 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping NF2.png] |
Local_order | 22q12.1-12.2 junction, incidentally not far from EWS |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
CABP7 (22q12.2) / NF2 (22q12.2) | EWSR1 (22q12.2) / NF2 (22q12.2) | FBXO10 (9p13.2) / NF2 (22q12.2) | |
GSTT1 (-) / NF2 (22q12.2) | NF2 (22q12.2) / CABP7 (22q12.2) | NF2 (22q12.2) / CLTCL1 (22q11.21) | |
NF2 (22q12.2) / EIF3D (22q12.3) | NF2 (22q12.2) / GRAP2 (22q13.1) | NF2 (22q12.2) / HSD3B2 (1p12) | |
NF2 (22q12.2) / LSM14A (19q13.11) | NF2 (22q12.2) / NF2 (22q12.2) | NF2 (22q12.2) / PI4KA (22q11.21) | |
NF2 (22q12.2) / PIEZO2 (18p11.22) | NF2 (22q12.2) / RHOT1 (17q11.2) | NF2 (22q12.2) / TCF20 (22q13.2) | |
RHOT1 (17q11.2) / NF2 (22q12.2) | TCF20 (22q13.2) / NF2 (22q12.2) |
DNA/RNA |
Description | exons 17 exons (1-15, 17 constitutive, 16 alternatively spliced); spans 120 kb; open reading frame: 1.8 kb |
Transcription | alternate splicing, in particular after exon 15 |
Protein |
Description | called merlin, schwannomin, or SCH; isoform 1 595 amino acids, isoform 2 590 amino acids (due to inclusion of exon 16 in transcript) ; 66 KDa; NH2 -- FERM domain -- large a helix domain -- COOH |
Expression | wide: in lung, kidney, ovary, breast, placenta, neuroblasts; high in fetal brain |
Localisation | membrane associated interacts with integral membrane proteins and actin-cytoskeleton |
Function | membrane-cytoskeleton anchor (as APC also appears to be); role in the development of extraembryonic structures before gastrulation; has characteristics of a tumour suppressor, as has been found in sporadic as well as neurofibromatosis type 2 induced schwannomas and meningiomas |
Homology | ezrin, radixin, moesin, members of the erythrocytes band 4.1 family, especially in the N-terminal FERM domain |
Mutations |
Germinal | inborn condition of neurofibromatosis type 2 patients: protein truncations due to various frameshift deletions or insertions or nonsense mutations; splice-site or missense mutations are also found; phenotype-genotype correlations are observed (i.e. that severe phenotype are found in cases with protein truncations rather than those with amino acid substitution) |
Somatic | mutation and allele loss events in tumours in neurofibromatosis type 2 and in sporadic schwannomas and meningiomas are in accordance with the two-hit model for neoplasia, as is found in retinoblastoma |
Implicated in |
Note | |
Entity | neurofibromatosis type 2 |
Disease | autosomal dominant tumor prone disease; neurofibromatosis type 2 (NF2: the same symbol is used for the disease neurofibromatosis type 2 and the gene) is an hamartoneoplastic syndrome |
Prognosis | hamartomas have a potential towards neoplasia; those, in NF2, are The tumors of NF2 are slow-growing benign schwannomas which do not progress to malignancy and meningiomas |
Entity | sporadic meningioma |
Entity | sporadic schwannoma |
Entity | other tumours: ependymoma; mesothelioma |
Bibliography |
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Merlin: the neurofibromatosis 2 tumor suppressor. |
Gusella JF, Ramesh V, MacCollin M, Jacoby LB |
Biochimica et biophysica acta. 1999 ; 1423 (2) : M29-M36. |
PMID 10214350 |
The parental origin of new mutations in neurofibromatosis 2. |
Kluwe L, Mautner V, Parry DM, Jacoby LB, Baser M, Gusella J, Davis K, Stavrou D, MacCollin M |
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The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. |
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Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. |
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Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. |
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Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. |
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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. |
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Citation |
This paper should be referenced as such : |
Gusella, JF |
NF2 (neurofibromatosis type 2) |
Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):91-92. |
Free journal version : [ pdf ] [ DOI ] |
History of this paper: |
Huret, JL. NF2 (neurofibromatosis type 2). Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):39-40. |
http://documents.irevues.inist.fr/bitstream/handle/2042/37406/03-1998-NF2117.pdf |
Huret, JL. NF2 (neurofibromatosis type 2). Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):39-40. |
http://documents.irevues.inist.fr/bitstream/handle/2042/37406/03-1998-NF2117.pdf |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 22 ] |
Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 3 ] |
Familial glioma Familial nervous system tumour syndromes Neurofibromatosis type 2 (NF2) |
External links |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
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