Gene

NF2

Species
Homo sapiens
Symbol
NF2
Name
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Synonyms
  • ACN
  • BANF
Biotype
protein coding gene
Automated Description
Predicted to enable actin binding activity and integrin binding activity. Involved in several processes, including Schwann cell proliferation; positive regulation of stress fiber assembly; and regulation of signal transduction. Located in several cellular components, including early endosome; nucleolus; and perinuclear region of cytoplasm. Implicated in gastrointestinal system cancer (multiple); malignant pleural mesothelioma; meningioma (multiple); neurilemmoma; and vestibular schwannomatosis. Biomarker of acoustic neuroma; hepatocellular carcinoma; lung non-small cell carcinoma; and malignant pleural mesothelioma.
RGD Description
This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46254
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusNf29 of 10YesYes  
Rattus norvegicusNf29 of 10YesYes  
Xenopus laevisnf2.S1 of 1YesYes           
Xenopus laevisnf2.L1 of 1YesYes           
Xenopus tropicalisnf25 of 9YesYes   
Danio rerionf2a9 of 10YesYes  
Danio rerionf2b1 of 10NoYes  
Drosophila melanogasterMer8 of 9YesYes   
Caenorhabditis elegansnfm-13 of 9YesYes   
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
MSN160365473 of 8  
EZR260565463 of 8  
RDX361663463 of 8  
FRMD4B467841222 of 8  
FRMD4A559343252 of 8  

Function - GO Annotations

No function available for that gene

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Abnormal brain FDG positron emission tomography
Abnormal central motor function
Abnormal central sensory function
Abnormal cerebellum morphology
Abnormal hypothalamus physiology
Abnormal kinetic perimetry test
Abnormal mediastinum morphology
Abnormal optic nerve morphology
Abnormal speech pattern
Abnormality of the eye
Showing 1 - 10 of 137 rows
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
Homo sapiensNF2
is marker foracoustic neuroma
  • IEP
    Homo sapiensNF2
    is implicated incolorectal cancer
    • IAGP
      Homo sapiensNF2
      is implicated infamilial meningioma
      • IAGP
        Homo sapiensNF2
        is implicated ingastrointestinal stromal tumor
        • IAGP
          Homo sapiensNF2
          is marker forhepatocellular carcinoma
          • IEP
            Homo sapiensNF2
            is marker for
            • disease progression of
            hepatocellular carcinoma
            • IEP
              Homo sapiensNF2
              is implicated inhepatocellular carcinoma
              • IAGP
                Homo sapiensNF2
                is marker forlung non-small cell carcinoma
                • IEP
                  Homo sapiensNF2
                  is implicated in
                  • disease progression of
                  malignant pleural mesothelioma
                  • IAGP
                    Homo sapiensNF2
                    is implicated inmalignant pleural mesothelioma
                    • IAGP
                      Showing 1 - 10 of 20 rows
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                      Alleles and Variants

                      No mapped variant information available
                      Allele/Variant Symbol
                      Allele Synonyms
                      Category
                      Variant
                      Variant type
                      Molecular consequence
                      Has Disease Annotations
                      Has Phenotype Annotations
                      NC_000022.11:g.29604002G>Tvariant
                      SNP
                      • missense variant
                      NC_000022.11:g.29695006C>Tvariant
                      SNP
                      • 3 prime UTR variant
                      NC_000022.11:g.29604110G>Tvariant
                      SNP
                      • stop gained
                      NC_000022.11:g.29604070G>Cvariant
                      SNP
                      • synonymous variant
                      NC_000022.11:g.29604071A>Gvariant
                      SNP
                      • missense variant
                      NC_000022.11:g.29636780T>Cvariant
                      SNP
                      • intron variant
                      NC_000022.11:g.29636786G>Avariant
                      SNP
                      • intron variant
                      NC_000022.11:g.29604053C>Tvariant
                      SNP
                      • missense variant
                      NC_000022.11:g.29636871A>Gvariant
                      SNP
                      • intron variant
                      NC_000022.11:g.29639143C>Gvariant
                      SNP
                      • intron variant
                      Showing 1 - 10 of 1,803 rows
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                      Transgenic Alleles

                      Species
                      (carrying the transgene)
                      Allele symbol
                      Transgenic construct
                      Expressed components
                      Knock-down targets
                      Regulatory regions
                      Has Disease Annotations
                      Has Phenotype Annotations
                      Mus musculusTg(NF2dCt)1Gth
                      Drosophila melanogasterHsap\NF21-301.UAS.Tag:FLAG
                      • UASt
                      Drosophila melanogasterHsap\NF21-356.UAS.Tag:FLAG
                      • UASt
                      Drosophila melanogasterHsap\NF2300-595.UAS.Tag:FLAG
                      • UASt
                      Drosophila melanogasterHsap\NF2351-595.UAS.Tag:FLAG
                      • UASt
                      Drosophila melanogasterHsap\NF2K413E.UAS.Tag:FLAG
                      • UASt
                      Drosophila melanogasterHsap\NF2L64P.UAS.Tag:FLAG
                      • UASt
                      Drosophila melanogasterHsap\NF2R466X.UAS.Tag:FLAG
                      • UASt
                      Drosophila melanogasterHsap\NF2UAS.Iso1.Tag:FLAG
                      • UASt
                      Drosophila melanogasterHsap\NF2UAS.Iso2.Tag:FLAG
                      • UASt
                      Showing 1 - 10 of 11 rows
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                      Models

                      No data available

                      Sequence Feature Viewer

                      Genome location
                      Assembly version
                      GRCh38
                      Viewer Help
                      29.61M29.62M29.63M29.64M29.65M29.66M29.67M29.68M29.69MENST00000334961.11 (NF2)ENST00000338641.10 (NF2)ENST00000353887.8 (NF2)ENST00000361166.10 (NF2)ENST00000361452.8 (NF2)ENST00000361676.8 (NF2)ENST00000397789.3 (NF2)ENST00000403435.5 (NF2)ENST00000403999.7 (NF2)ENST00000413209.6 (NF2)Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.Maximum features displayed. See full view for more.

                      Sequence Details

                      Transcript: Mode:
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                      Expression

                      Primary Sources
                      None
                      Other Sources
                      all annotationsall anatomical structuresalimentary part of gastrointestinal systemchemosensory systemcirculatory systemendocrine systemexocrine systemhemolymphoid systemhepatobiliary systemintegumental systemmechanosensory systemmusculoskeletal systemnervous systemrenal systemreproductive systemrespiratory systemsensory systemvestibulo-auditory systemvisual systemendodermectodermmesodermmesenchymeadipose tissueappendageentire extraembryonic componentimaginal precursorpharyngeal archotherall stagesembryo stagepost embryonic, pre-adultpost-juvenile adult stageall cellular componentsextracellular regionplasma membranesynapsecell junctioncell projectioncytoplasmic vesicleendosomevacuolegolgi apparatusendoplasmic reticulumcytosolmitochondrionnucleuschromosomecytoskeletonprotein-containing complexother locations
                      Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

                      Molecular Interactions

                      Genetic Interactions

                      NF2 role
                      NF2 genetic perturbation
                      Interactor gene
                      Interactor species
                      Interactor role
                      Interactor genetic perturbation
                      Interaction type
                      Phenotype or trait
                      Source
                      Reference
                      unspecified role
                      ACOT9Homo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      AGO4Homo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      AK2Homo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      ALS2CLHomo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      ARID2Homo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      ASB6Homo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      BRIP1Homo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      BZW1Homo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      DDX19AHomo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
                      unspecified role
                      DYRK2Homo sapiens
                      unspecified role
                      negative genetic interaction (sensu BioGRID)
                      • Growth abnormality, viability
                      PMID:35559673
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