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merlin; moesin-ezrin-radixin-like protein; neurofibromin-2; schwannomin; schwannomerlin (NF2, SCH)

Function: - probably acts as a membrane stabilizing protein - may inhibit PI3 kinase by binding to AGAP2 & impairing its stimulating activity - interacts with SLC9A3R1, HGS & AGAP2 - interacts with LAYN (putative) - interacts with SGSM3 - interacts with beta-II-spectrin (beta fodrin) Structure: contains 1 FERM domain Compartment: - isoform 1: cell projection, filopodium membrane; peripheral membrane protein, cytoplasmic side; ruffle membrane - isoform 7: cytoplasm, perinuclear region, cytoplasmic granule concentrated in a perinuclear location; absent from ruffling membranes & filopodia - isoform 9: cytoplasm, perinuclear region cytoplasmic granule concentrated in a perinuclear location; absent from ruffling membranes & filopodia - isoform 10: nucleus. cell projection, filopodium membrane; peripheral membrane protein, cytoplasmic side; cytoplasm, perinuclear region; cytoplasmic granule; cytoplasm, cytoskeleton Alternative splicing: named isoforms=10 Expression: - widely expressed - isoforms 1 & 3 are predominant - isoforms 4, 5 & 6 are expressed moderately, isoform 8 is found at low frequency - isoforms 7, 9 & 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10 - isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle & spleen - fetal thymus expresses isoforms 1, 7, 9 & 10 at similar levels Pathology: - defects in NF2 are the cause of neurofibromatosis 2 - defects in NF2 are a cause of schwannomatosis - absent in schwannomas, some meningiomas & ependymomas

Interactions

molecular events

Related

neurofibromatosis type 1 [NF1] protein or neurofibromin neurofibromatosis type-2 gene or NF2 gene

General

cytoskeletal protein phosphoprotein

Properties

SIZE: entity length = 595 aa MW = 70 kD COMPARTMENT: cytoplasm cell nucleus MOTIF: FERM domain NAME: FERM domain SITE: 22-311 glutamate-rich region {327-465} MOTIF: glutamate residue (SEVERAL) Ser phosphorylation site {S518}

Database Correlations

OMIM correlations MORBIDMAP 607379 UniProt P35240 PFAM correlations Entrez Gene 4771 Kegg hsa:4771

References

  1. Trofatter JA et al A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800 1993 PMID: 8453669
  2. Scoles DR et al Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. Nature Genet 18:354-9, 1998 PMID: 9537418
  3. Entrez Gene :accession 4771
  4. UniProt :accession P35240
  5. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/NF2117.html
  6. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=NF2

Component-of

molecular complex