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Nf2
Gene Detail
 Symbol
Name
ID
Nf2
neurofibromatosis 2
MGI:97307
STS D11Mcg1
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 zebrafish

Protein SuperFamily: ezrin/radixin/moesin
Gene Tree: Nf2

Human
homologs
Human Homolog NF2, neurofibromin 2 (merlin)
NCBI Gene ID 4771
neXtProt AC  NX_P35240
Human Synonyms  ACN, BANF, SCH
Human Chr (Location)  22q12.2; chr22:29603556-29698600 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human NF2
Alleles
and
phenotypes
All alleles(107) : Targeted(8) Gene trapped(99)
 
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 Using Mouse Nf2 (3)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (54 annotations)
Process actin cytoskeleton organization, cell-cell junction organization, ...
Component adherens junction, cell projection, ...
Function actin binding, beta-catenin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (154)    Tissues (136)    Images (23)
Theiler Stages: 7, 8, 10, 11, 12, 13, 14, 15, 16, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 1
RNA in situ 106
Western blot 30
RT-PCR 17
cDNA source data(204)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(212) Genomic(2) cDNA(205) Primer pair(5)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000005071 (Evidence)
Ensembl Gene ModelENSMUSG00000009073 (Evidence)
Entrez Gene18016 (Evidence)
UniGene297109
DFCITC1572386, TC1583718, TC1590288, TC1590632, TC1621445, TC1623064, TC1624808, TC1693351
DoTSDT.101137204, DT.101213284, DT.101713573, DT.103600904, DT.55100747, DT.55226162, DT.91326594, DT.91342907, DT.94362751
NIA Mouse Gene IndexU032451
PDB1ISN
Consensus CDS ProjectCCDS24391.1, CCDS56757.1
International Mouse Knockout Project StatusNf2
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(132) RefSeq(22) UniProt(11)
Polymorphisms PCR(2) : SNPs within 2kb(537 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR019749 Band 4.1 domain
InterPro IPR019750 Band 4.1 family
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 IPR015788 Moesin/ezrin/radixin homologue 2
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:203242 Peyre M, et al., Meningioma progression in mice triggered by Nf2 and Cdkn2ab inactivation. Oncogene. 2013 Sep 5;32(36):4264-72
All references(98)
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
04/08/2014
MGI 5.17
The Jackson Laboratory