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Nf2 neurofibromatosis 2 [ Mus musculus (house mouse) ]

Gene ID: 18016, updated on 8-May-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
105 current GRCm38.p3 (GCF_000001635.23) 11 NC_000077.6 (4757650..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 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000077.6 Reference GRCm38.p3 C57BL/6J

    Range
    4757650..4849544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006514569.2XP_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
  2. XM_006514574.2XP_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
  3. XM_006514571.2XP_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
  4. XM_006514572.2XP_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_011243670.1XP_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_006514573.1XP_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
  7. XM_011243669.1XP_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
  8. XM_006514570.1XP_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

Alternate Mm_Celera

Genomic

  1. AC_000033.1 Alternate Mm_Celera

    Range
    5266244..5349971 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)