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Nf2 Gene Detail
Summary
  • Symbol
    Nf2
  • Name
    neurofibromatosis 2
  • Synonyms
    merlin, moesin-ezrin-radixin-like protein, schwannomin
  • Feature Type
    protein coding gene
  • IDs
    MGI:97307
    NCBI Gene: 18016
  • Gene Overview
    MyGene.info: NF2
Location & Maps
more
  • Sequence Map
    Chr11:4765845-4849536 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      83692 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NF2, neurofibromin 2 (merlin)
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NF2, neurofibromin 2 (merlin)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACN, BANF, SCH
  • Links
    NCBI Gene ID: 4771
    neXtProt AC: NX_P35240

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

Human Diseases
more
  • Diseases
    3 with Nf2 mouse models; 3 with human NF2 associations

Human Disease Mouse Models
       Meningioma, Familial, Susceptibility to   OMIM: 607174 View 1 model
Neurofibromatosis, Type II; NF2   OMIM: 101000 View 1 model
       Otitis Media, Susceptibility to   OMIM: 166760 View 3 models
       Schwannomatosis 1; SWNTS1   OMIM: 162091
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    81 phenotypes from 6 alleles in 10 genetic backgrounds
    37 phenotypes from multigenic genotypes
    46 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    108
  • Gene trapped
    99
  • Targeted
    8
  • Transgenic
    1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    584 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 215
    Genomic 2
    cDNA 205
    Primer pair 5
    Other 3

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-12823
References
more
  • Summaries
    All 104
    Developmental Gene Expression 14
    Diseases 5
    Gene Ontology 19
    Phenotypes 46
  • 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:228064 Gao X, et al., Anti-VEGF treatment improves neurological function and augments radiation response in NF2 schwannoma model. Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):14676-81

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory