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    Nf2 neurofibromin 2 [ Mus musculus (house mouse) ]

    Gene ID: 18016, updated on 19-Sep-2021

    Summary

    Official Symbol
    Nf2provided by MGI
    Official Full Name
    neurofibromin 2provided by MGI
    Primary source
    MGI:MGI:97307
    See related
    Ensembl:ENSMUSG00000009073
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    me; schw; merlin
    Expression
    Ubiquitous expression in adrenal adult (RPKM 31.2), testis adult (RPKM 20.8) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Nf2 in Genome Data Viewer
    Location:
    11 A1; 11 3.0 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (4715845..4799544, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (4757639..4849544, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (4665851..4749530, complement)

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

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables beta-catenin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables integrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in Schwann cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ectoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hippocampus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lens fiber cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesoderm formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of receptor signaling pathway via JAK-STAT ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of tyrosine phosphorylation of STAT protein ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of stress fiber assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gliogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of hippo signaling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of neural precursor cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of stem cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cleavage furrow IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    merlin
    Names
    moesin-ezrin-radixin-like protein
    neurofibromatosis 2
    schwannomin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      ENSMUSP00000055061.7, ENSMUST00000056290.13
      Conserved Domains (4) summary
      PLN03086
      Location:307367
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347580
      ERM; Ezrin/radixin/moesin family
    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
      ENSMUSP00000055033.7, ENSMUST00000053079.13
      Conserved Domains (4) summary
      PLN03086
      Location:307367
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347580
      ERM; Ezrin/radixin/moesin family
    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
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00373
      Location:107222
      FERM_M; FERM central domain
      pfam00769
      Location:347581
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:2687
      FERM_N; FERM N-terminal domain
    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
      Related
      ENSMUST00000109908.8
      Conserved Domains (5) summary
      smart00295
      Location:1184
      B41; Band 4.1 homologues
      cd13194
      Location:178274
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00373
      Location:69184
      FERM_M; FERM central domain
      pfam00769
      Location:309543
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:149
      FERM_N; FERM N-terminal domain
    5. NM_001361675.1NP_001348604.1  merlin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AK017343, AK045998, AK167685, AL606521, AL645603, CB519415, CD561250, CK346889, CN526793
      Conserved Domains (4) summary
      smart00295
      Location:23181
      B41; Band 4.1 homologues
      cd13194
      Location:175271
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:306555
      ERM; Ezrin/radixin/moesin family
      cl27293
      Location:266326
      UFD1; Ubiquitin fusion degradation protein UFD1
    6. NM_001361676.1NP_001348605.1  merlin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AK017343, AK045998, AK167685, AL606521, AL645603, BM951158, CB519415, CD561250, CK346889, CN526793
      Conserved Domains (4) summary
      smart00295
      Location:23181
      B41; Band 4.1 homologues
      cd13194
      Location:175271
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:306539
      ERM; Ezrin/radixin/moesin family
      cl27293
      Location:266326
      UFD1; Ubiquitin fusion degradation protein UFD1
    7. NM_001361677.1NP_001348606.1  merlin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AK017343, AK045998, AK167685, AL606521, AL645603, BM951158, CB519415, CD561250, CK346889, CN526793
      Conserved Domains (4) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:302535
      ERM; Ezrin/radixin/moesin family
      cl17171
      Location:216267
      PH-like; Pleckstrin homology-like domain
      cl27293
      Location:262322
      UFD1; Ubiquitin fusion degradation protein UFD1
    8. 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
      ENSMUSP00000105536.3, ENSMUST00000109910.9
      Conserved Domains (5) summary
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00373
      Location:107222
      FERM_M; FERM central domain
      pfam00769
      Location:347596
      ERM; Ezrin/radixin/moesin family
      pfam09379
      Location:2687
      FERM_N; FERM N-terminal domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      4715845..4799544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011243669.3XP_011241971.1  merlin isoform X1

      See identical proteins and their annotated locations for XP_011241971.1

      UniProtKB/Swiss-Prot
      P46662
      Conserved Domains (4) summary
      PLN03086
      Location:307367
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347580
      ERM; Ezrin/radixin/moesin family
    2. XM_036156401.1XP_036012294.1  merlin isoform X3

      Conserved Domains (4) summary
      PLN03086
      Location:221281
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23181
      B41; Band 4.1 homologues
      pfam00769
      Location:261510
      ERM; Ezrin/radixin/moesin family
      cl17171
      Location:175226
      PH-like; Pleckstrin homology-like domain
    3. XM_030245645.2XP_030101505.1  merlin isoform X2

      Conserved Domains (4) summary
      PLN03086
      Location:262322
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:302551
      ERM; Ezrin/radixin/moesin family
      cl17171
      Location:216267
      PH-like; Pleckstrin homology-like domain
    4. XM_036156402.1XP_036012295.1  merlin isoform X4

      Conserved Domains (4) summary
      PLN03086
      Location:129189
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:144
      B41; Band 4.1 homologues
      cd13194
      Location:38134
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:169418
      ERM; Ezrin/radixin/moesin family
    5. XM_006514570.2XP_006514633.1  merlin isoform X1

      See identical proteins and their annotated locations for XP_006514633.1

      UniProtKB/Swiss-Prot
      P46662
      Related
      ENSMUSP00000091066.5, ENSMUST00000093374.11
      Conserved Domains (4) summary
      PLN03086
      Location:307367
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347580
      ERM; Ezrin/radixin/moesin family
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