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Nf2 neurofibromin 2 [ Mus musculus (house mouse) ]

Gene ID: 18016, updated on 16-Nov-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
merlin
Expression
Ubiquitous expression in adrenal adult (RPKM 31.2), testis adult (RPKM 20.8) and 28 other tissues See more
Orthologs
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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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
involved_in negative regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
involved_in regulation of gliogenesis IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in adherens junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in apical part of cell IBA
Inferred from Biological aspect of Ancestor
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
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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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