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Nf2
Gene Detail
Symbol

Name
ID
Nf2
neurofibromatosis 2
MGI:97307
STS
Synonyms
merlin, moesin-ezrin-radixin-like protein, schwannomin
Feature Type
protein coding gene
Genetic Map
Chromosome 11
3.00 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr11:4765845-4849536 bp, - strand
From VEGA annotation of GRCm38

  83692 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2180  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NF2
Protein SuperFamily: ezrin/radixin/moesin
Gene Tree: Nf2

Human
homologs
NF2, neurofibromin 2 (merlin)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4771
neXtProt AC: NX_P35240

Human Synonyms: ACN, BANF, SCH

Human Chr (Location): 22q12.2; chr22:29603556-29698600 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human NF2

Mutations,
alleles, and
phenotypes
All mutations/alleles(107) : Gene trapped(99) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous targeted null mutants lack extraembryonic ectoderm, do not initiate gastrulation and die by embryonic day 7. Heterozygotes develop malignant tumors, especially osteosarcomas. Conditional Schwann cell knockouts resemble neurofibromatosis type 2.
 
Human Diseases Modeled in Mice Using Nf2 (2)    Mutations Annotated to Human Diseases (2)   
Interactions
Nf2 interacts with 235 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (69 annotations)
Process actin cytoskeleton organization, brain development, ...
Component adherens junction, apical part of cell, ...
Function actin binding, beta-catenin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (240)    Tissues (189)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 55
RNA in situ 126
Western blot 42
RT-PCR 17
cDNA source data(204)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nf2    NEW 
Molecular
reagents
All nucleic(215) Genomic(2) cDNA(205) Primer pair(5) Other(3)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000005071 (Evidence)
Ensembl Gene Model ENSMUSG00000009073 (Evidence)
Entrez Gene 18016 (Evidence)
UniGene 297109
DFCI TC1572386, TC1583718, TC1590288, TC1590632, TC1621445, TC1623064, TC1624808, TC1693351
DoTS DT.101137204, DT.101213284, DT.101713573, DT.103600904, DT.55100747, DT.55226162, DT.91326594, DT.91342907, DT.94362751
NIA Mouse Gene Index U032451
PDB 1ISN, 3WA0, 4P7I
Consensus CDS Project CCDS24391.1, CCDS56757.1
International Mouse Phenotyping Consortium Status Nf2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005071 VEGA Gene Model | MGI Sequence Detail 83692 C57BL/6J ±  kb
transcript OTTMUST00000011302 VEGA | MGI Sequence Detail 4720 Not Applicable 
polypeptide OTTMUSP00000005267 VEGA | MGI Sequence Detail 596 Not Applicable 

For the selected sequences
All sequences(136) RefSeq(26) UniProt(11)
Polymorphisms
PCR(2) : SNPs within 2kb(537 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR019749 Band 4.1 domain
InterPro IPR011174 Ezrin/radixin/moesin
InterPro IPR011259 Ezrin/radixin/moesin, C-terminal
InterPro IPR000798 Ezrin/radixin/moesin like
InterPro IPR014352 FERM/acyl-CoA-binding protein, 3-helical bundle
InterPro IPR019748 FERM central domain
InterPro IPR019747 FERM conserved site
InterPro IPR018980 FERM, C-terminal PH-like domain
InterPro IPR000299 FERM domain
InterPro IPR018979 FERM, N-terminal
InterPro IPR008954 Moesin
InterPro IPR011993 Pleckstrin homology-like domain
Protein Ontology PR:000003020 merlin
References
(Earliest) J:16430 Hara T, et al., Molecular cloning and characterization of alternatively spliced transcripts of the mouse neurofibromatosis 2 gene. Cancer Res. 1994 Jan 15;54(2):330-5
(Latest) J:223215 Chen Q, et al., Homeostatic control of Hippo signaling activity revealed by an endogenous activating mutation in YAP. Genes Dev. 2015 Jun 15;29(12):1285-97
All references(105)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-12823

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory