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    Nf2 neurofibromatosis 2 [ Mus musculus (house mouse) ]

    Gene ID: 18016, updated on 3-Jul-2016
    Official Symbol
    Nf2provided by MGI
    Official Full Name
    neurofibromatosis 2provided by MGI
    Primary source
    MGI:MGI:97307
    See related
    Ensembl:ENSMUSG00000009073 Vega:OTTMUSG00000005071
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    merlin
    Orthologs
    Location:
    11 A1; 11 3.0 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (4757644..4849544, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (4665851..4749530, complement)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene zinc finger, matrin type 5 Neighboring gene predicted gene, 35102 Neighboring gene calcium binding protein 7 Neighboring gene peptidase M20 domain containing 2 pseudogene Neighboring gene nipsnap homolog 1 (C. elegans) Neighboring gene microRNA 6918

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    beta-catenin binding ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    integrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    Schwann cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ectoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hippocampus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lens fiber cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mesoderm formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of DNA replication ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of JAK-STAT cascade ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of tyrosine phosphorylation of Stat3 protein ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of tyrosine phosphorylation of Stat5 protein ISO
    Inferred from Sequence Orthology
    more info
     
    odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of stress fiber assembly ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gliogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of hippo signaling ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of neural precursor cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of stem cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    adherens junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cleavage furrow IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    extrinsic component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    merlin
    Names
    moesin-ezrin-radixin-like protein
    neurofibromin-2
    schwannomin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001252250.1NP_001239179.1  merlin isoform 1

      See identical proteins and their annotated locations for NP_001239179.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 encode the same isoform 1.
      Source sequence(s)
      AK045998, AL606521, AL645603, BX638106, L27105
      Consensus CDS
      CCDS56757.1
      UniProtKB/Swiss-Prot
      P46662
      Related
      ENSMUSP00000055061, OTTMUSP00000005268, ENSMUST00000056290, OTTMUST00000011303
      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:347580
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:26102
      FERM_N; FERM N-terminal domain
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:114214
      FERM_B-lobe; FERM domain B-lobe
    2. NM_001252251.1NP_001239180.1  merlin isoform 1

      See identical proteins and their annotated locations for NP_001239180.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform 1.
      Source sequence(s)
      AK045998, AL645603
      Consensus CDS
      CCDS56757.1
      UniProtKB/Swiss-Prot
      P46662
      Related
      ENSMUSP00000055033, OTTMUSP00000005270, ENSMUST00000053079, OTTMUST00000011305
      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:347580
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:26102
      FERM_N; FERM N-terminal domain
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:114214
      FERM_B-lobe; FERM domain B-lobe
    3. NM_001252252.1NP_001239181.1  merlin isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon but has an alternate segment in the 3' coding region, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK045998, AL606521, AL645603, BX638106
      UniProtKB/Swiss-Prot
      P46662
      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:347581
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:26102
      FERM_N; FERM N-terminal domain
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:114214
      FERM_B-lobe; FERM domain B-lobe
    4. NM_001252253.1NP_001239182.1  merlin isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, 3' UTR, and coding region, compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK017343, AK045998
      UniProtKB/Swiss-Prot
      P46662
      UniProtKB/TrEMBL
      Q9D3K3
      Conserved Domains (5) summary
      smart00295
      Location:1184
      B41; Band 4.1 homologues
      pfam00769
      Location:309543
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:464
      FERM_N; FERM N-terminal domain
      cd13194
      Location:178274
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:76176
      FERM_B-lobe; FERM domain B-lobe
    5. NM_010898.4NP_035028.2  merlin isoform 2

      See identical proteins and their annotated locations for NP_035028.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 3' region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK167685, AL606521, AL645603, BX638106, L27090
      Consensus CDS
      CCDS24391.1
      UniProtKB/Swiss-Prot
      P46662
      UniProtKB/TrEMBL
      Q3TIW4
      Related
      ENSMUSP00000105536, OTTMUSP00000005267, ENSMUST00000109910, OTTMUST00000011302
      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:347596
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:26102
      FERM_N; FERM N-terminal domain
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:114214
      FERM_B-lobe; FERM domain B-lobe

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

      Range
      4757644..4849544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514574.3XP_006514637.1  

      Conserved Domains (5) summary
      smart00295
      Location:23181
      B41; Band 4.1 homologues
      pfam00769
      Location:261495
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:2692
      FERM_N; FERM N-terminal domain
      cd14473
      Location:81173
      FERM_B-lobe; FERM domain B-lobe
      cl17171
      Location:175226
      PH-like; Pleckstrin homology-like domain
    2. XM_006514571.3XP_006514634.1  

      Conserved Domains (5) summary
      smart00295
      Location:23181
      B41; Band 4.1 homologues
      pfam00769
      Location:306540
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:2692
      FERM_N; FERM N-terminal domain
      cd13194
      Location:175271
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:81173
      FERM_B-lobe; FERM domain B-lobe
    3. XM_006514569.3XP_006514632.1  

      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:347581
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:26102
      FERM_N; FERM N-terminal domain
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:114214
      FERM_B-lobe; FERM domain B-lobe
    4. XM_006514572.3XP_006514635.1  

      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:302536
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:26102
      FERM_N; FERM N-terminal domain
      cd14473
      Location:114214
      FERM_B-lobe; FERM domain B-lobe
      cl17171
      Location:216267
      PH-like; Pleckstrin homology-like domain
    5. XM_011243670.2XP_011241972.1  

      Conserved Domains (3) summary
      pfam00769
      Location:169403
      ERM; Ezrin/radixin/moesin family
      cd13194
      Location:38134
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:136
      FERM_B-lobe; FERM domain B-lobe
    6. XM_017314334.1XP_017169823.1  

    7. XM_006514573.2XP_006514636.1  

      Conserved Domains (5) summary
      smart00295
      Location:23181
      B41; Band 4.1 homologues
      pfam00769
      Location:306539
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:2692
      FERM_N; FERM N-terminal domain
      cd13194
      Location:175271
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:81173
      FERM_B-lobe; FERM domain B-lobe
    8. XM_017314335.1XP_017169824.1  

    9. XM_011243669.2XP_011241971.1  

      See identical proteins and their annotated locations for XP_011241971.1

      UniProtKB/Swiss-Prot
      P46662
      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:347580
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:26102
      FERM_N; FERM N-terminal domain
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:114214
      FERM_B-lobe; FERM domain B-lobe
    10. XM_006514570.2XP_006514633.1  

      See identical proteins and their annotated locations for XP_006514633.1

      UniProtKB/Swiss-Prot
      P46662
      Related
      ENSMUSP00000091066, OTTMUSP00000049831, ENSMUST00000093374, OTTMUST00000090751
      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:347580
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:26102
      FERM_N; FERM N-terminal domain
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      cd14473
      Location:114214
      FERM_B-lobe; FERM domain B-lobe