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Nf2 Gene Detail
Summary
  • Symbol
    Nf2
  • Name
    neurofibromin 2
  • Synonyms
    merlin, moesin-ezrin-radixin-like protein, schwannomin
  • Feature Type
    protein coding gene
  • IDs
    MGI:97307
    NCBI Gene: 18016
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:4715845-4799536 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 3.00 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2050 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97307
 protein coding gene Chr11:4715845-4799544 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017989
 protein coding gene Chr11:1750785-1842367 (-)
A/J MGP_AJ_G0017962
 protein coding gene Chr11:1717671-1803048 (-)
AKR/J MGP_AKRJ_G0017926
 protein coding gene Chr11:1797613-1885322 (-)
BALB/cJ MGP_BALBcJ_G0017930
 protein coding gene Chr11:1691196-1776029 (-)
C3H/HeJ MGP_C3HHeJ_G0017743
 protein coding gene Chr11:1685428-1772992 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018382
 protein coding gene Chr11:1819294-1912107 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016040
 protein coding gene Chr11:1609929-1695875 (-)
CAST/EiJ MGP_CASTEiJ_G0017306
 protein coding gene Chr11:1664730-1753838 (-)
CBA/J MGP_CBAJ_G0017718
 protein coding gene Chr11:2094021-2185820 (-)
DBA/2J MGP_DBA2J_G0017828
 protein coding gene Chr11:1635469-1704903 (-)
FVB/NJ MGP_FVBNJ_G0017820
 protein coding gene Chr11:1658515-1742761 (-)
LP/J MGP_LPJ_G0017899
 protein coding gene Chr11:1847981-1933155 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017846
 protein coding gene Chr11:1760017-1850158 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018422
 protein coding gene Chr11:1797358-1886189 (-)
PWK/PhJ MGP_PWKPhJ_G0017085
 protein coding gene Chr11:1628414-1714325 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016882
 protein coding gene Chr11:1770865-1864551 (-)
WSB/EiJ MGP_WSBEiJ_G0017359
 protein coding gene Chr11:1676112-1762377 (-)



Homology
more
  • Human Ortholog
    NF2, NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NF2, NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
  • Synonyms
    ACN, BANF, merlin-1, SCH, SWNV
  • Links
    NCBI Gene ID: 4771
    neXtProt AC: NX_P35240
    UniProt: P35240

  • Chr Location
    22q12.2; chr22:29603553-29698600 (+)  GRCh38
  • MGI Vertebrate Homology
    Nf2 stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: NF2
  • Protein SuperFamily
    ERM
  • Gene Tree
    Nf2
Human Diseases
more
  • Diseases
    4 with Nf2 mouse models; 8 with human NF2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
IDs
 View 3 models
IDs
 View 1 model
      
IDs
IDs
 View 1 model
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    90 phenotypes from 6 alleles in 11 genetic backgrounds
    38 phenotypes from multigenic genotypes
    84 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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. Mice homozygous for a conditional allele activated in the eye exhibit coloboma.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    90
  • GO References
    21
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    955
  • Tissues
    193
  • cDNA Data
    205
  • Literature Summary
    23
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000009073 Ensembl Gene Model | MGI Sequence Detail 83692 C57BL/6J ±  kb
    transcript ENSMUST00000109910 Ensembl | MGI Sequence Detail 4720 Not Applicable  
    polypeptide ENSMUSP00000105536 Ensembl | MGI Sequence Detail 596 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 217
      Genomic 2
      cDNA 206
      Primer pair 5
      Other 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-12823
    References
    more
    • Summaries
      All 168
      Developmental Gene Expression 23
      Diseases 8
      Gene Ontology 21
      Phenotypes 84
    • 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:355649 Li Q, et al., Metabolic rewiring during bone development underlies tRNA m7G-associated primordial dwarfism. J Clin Invest. 2024 Sep 10;134(20)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory