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Description for Protein NF2

neurofibromin 2 (merlin)
31 total interacting proteins; 20 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • B41: Band 4.1 homologues
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Merlin; SCH; Moesin-ezrin-radixin-like protein; Schwannomin; Schwannomerlin; BANF; ACN; Neurofibromatosis-2; Neurofibromatosis type 2; Neurofibromin 2 isoform 1; Neurofibromin 2 isoform 6; Neurofibromin 2 isoform 5; Neurofibromin 2 isoform 8
    Approved Symbol:
    NF2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 19
    Human (de-) phosphorylation sites: 19; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Meningioma, somatic(Pd);
  • Neurofibromatosis, type II(Pd);
  • Schwannomatosis, somatic(Pd)
    		• Predicted Transmembrane Domains:
    06980_13(0)
    06980_12(0)
    06980_11(0)
    06980_10(0)
  • Isoform 9 : 0
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06980 Entrez Gene ID: 4771 OMIM ID: 607379 Swissprot Accession: P35240;