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Aliases for NF2 Gene

Aliases for NF2 Gene

  • Neurofibromin 2 (Merlin) 2 3
  • Schwannomin 2 3 4
  • Neurofibromin 2 (Bilateral Acoustic Neuroma) 2 3
  • Moesin-Ezrin-Radixin-Like Protein 3 4
  • Moesin-Ezrin-Radixin Like 2 3
  • Neurofibromin-2 3 4
  • Schwannomerlin 3 4
  • SCH 3 4
  • Moesin-Ezrin-Radizin-Like Protein 3
  • Merlin 3
  • BANF 3
  • ACN 3

External Ids for NF2 Gene

Summaries for NF2 Gene

Entrez Gene Summary for NF2 Gene

  • This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]

GeneCards Summary for NF2 Gene

NF2 (Neurofibromin 2 (Merlin)) is a Protein Coding gene. Diseases associated with NF2 include plexiform schwannoma and neurofibromatosis type 5. Among its related pathways are Hippo signaling pathway and Cytoskeletal Signaling. GO annotations related to this gene include cytoskeletal protein binding. An important paralog of this gene is C1orf106.

UniProtKB/Swiss-Prot for NF2 Gene

  • Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.

Gene Wiki entry for NF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NF2 Gene

Genomics for NF2 Gene

Genomic Location for NF2 Gene

Start:
29,603,556 bp from pter
End:
29,698,600 bp from pter
Size:
95,045 bases
Orientation:
Plus strand

Genomic View for NF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NF2 Gene

Regulatory Elements for NF2 Gene

Transcription factor binding sites by QIAGEN in the NF2 gene promoter:

Proteins for NF2 Gene

  • Protein details for NF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35240-MERL_HUMAN
    Recommended name:
    Merlin
    Protein Accession:
    P35240
    Secondary Accessions:
    • O95683
    • Q8WUJ2
    • Q969N0
    • Q969Q3
    • Q96T30
    • Q96T31
    • Q96T32
    • Q96T33
    • Q9BTW3
    • Q9UNG9
    • Q9UNH3
    • Q9UNH4

    Protein attributes for NF2 Gene

    Size:
    595 amino acids
    Molecular mass:
    69690 Da
    Quaternary structure:
    • Interacts with SLC9A3R1, HGS and AGAP2. Interacts with LAYN (By similarity). Interacts with SGSM3. Interacts (via FERM domain) with MPP1. Interacts with WWC1. Interacts with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. The unphosphorylated form interacts (via FERM domain) with VPRBP/DCAF1.

    Three dimensional structures from OCA and Proteopedia for NF2 Gene

    Alternative splice isoforms for NF2 Gene

neXtProt entry for NF2 Gene

Proteomics data for NF2 Gene at MOPED

Post-translational modifications for NF2 Gene

  • Phosphorylation of Ser-518 inhibits nuclear localization by disrupting the intramolecular association of the FERM domain with the C-terminal tail.
  • Ubiquitinated by the CUL4A-RBX1-DDB1-DCAF1/VprBP E3 ubiquitin-protein ligase complex for ubiquitination and subsequent proteasome-dependent degradation.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys269, Lys364, and Lys396

No data available for DME Specific Peptides for NF2 Gene

Domains for NF2 Gene

Gene Families for NF2 Gene

HGNC:
  • AKAP :A-kinase anchor proteins

UniProtKB/Swiss-Prot:

MERL_HUMAN
Domain:
  • Contains 1 FERM domain.:
    • P35240
genes like me logo Genes that share domains with NF2: view

Function for NF2 Gene

Molecular function for NF2 Gene

GENATLAS Biochemistry: ezrin-moesin-radixin-like,merlin,ezrin,moesin,radixin-like (ERM) family member responding and participating in reorganization of membrane-cytoplasmic interactions,with several alternatively spliced isoforms,essential in mouse for extraembryonic development immediatly prior to gastrulation,involved in the maintenance of normal cytoskeletal organization,involved in tumor suppression (see TSG22A)
UniProtKB/Swiss-Prot Function: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.

Gene Ontology (GO) - Molecular Function for NF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 10669747
GO:0008092 cytoskeletal protein binding --
genes like me logo Genes that share ontologies with NF2: view
genes like me logo Genes that share phenotypes with NF2: view

Animal Models for NF2 Gene

MGI Knock Outs for NF2:

miRNA for NF2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NF2 Gene

Localization for NF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NF2 Gene

Isoform 1: Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Colocalizes with MPP1 in non-myelin-forming Schwann cells. Binds with VPRBP in the nucleus. The intramolecular association of the FERM domain with the C-terminal tail promotes nuclear accumulation. The unphosphorylated form accumulates predominantly in the nucleus while the phosphorylated form is largely confined to the non-nuclear fractions.
Isoform 7: Cytoplasm, perinuclear region. Cytoplasmic granule. Note=Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 7 is absent from ruffling membranes and filopodia.
Isoform 9: Cytoplasm, perinuclear region. Cytoplasmic granule. Note=Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 9 is absent from ruffling membranes and filopodia.
Isoform 10: Nucleus. Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, perinuclear region. Cytoplasmic granule. Cytoplasm, cytoskeleton. Note=In a fibroblastic cell line, isoform 10 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NF2 Gene COMPARTMENTS Subcellular localization image for NF2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 4
endosome 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for NF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle --
GO:0005634 nucleus IDA 10401006
GO:0005730 nucleolus IDA 9537418
GO:0005737 cytoplasm IDA --
GO:0005769 early endosome IDA 10861283
genes like me logo Genes that share ontologies with NF2: view

Pathways for NF2 Gene

genes like me logo Genes that share pathways with NF2: view

Pathways by source for NF2 Gene

1 Qiagen pathway for NF2 Gene
2 Cell Signaling Technology pathways for NF2 Gene
1 BioSystems pathway for NF2 Gene
1 KEGG pathway for NF2 Gene

Gene Ontology (GO) - Biological Process for NF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001707 mesoderm formation IEA --
GO:0001953 negative regulation of cell-matrix adhesion TAS 17210637
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007398 ectoderm development IEA --
genes like me logo Genes that share ontologies with NF2: view

Compounds for NF2 Gene

(12) Novoseek inferred chemical compound relationships for NF2 Gene

Compound -log(P) Hits PubMed IDs
frovatriptan 72 9
ranolazine 46.6 4
deoxyribonucleic acid 17.1 1
tyrosine 3.2 6
progesterone 0 4
genes like me logo Genes that share compounds with NF2: view

Transcripts for NF2 Gene

Unigene Clusters for NF2 Gene

Neurofibromin 2 (merlin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NF2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ·
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - - - - - -
SP10: - - - - - - - - - - - - -

ExUns: 19c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for NF2 Gene

GeneLoc Exon Structure for
NF2
ECgene alternative splicing isoforms for
NF2

Expression for NF2 Gene

mRNA expression in normal human tissues for NF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NF2 Gene

SOURCE GeneReport for Unigene cluster for NF2 Gene Hs.187898

mRNA Expression by UniProt/SwissProt for NF2 Gene

P35240-MERL_HUMAN
Tissue specificity: Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels
genes like me logo Genes that share expressions with NF2: view

Orthologs for NF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NF2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NF2 36
  • 91.2 (n)
  • 98.15 (a)
NF2 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NF2 36
  • 94.4 (n)
  • 99.66 (a)
NF2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nf2 36
  • 90.36 (n)
  • 98.49 (a)
Nf2 16
Nf2 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NF2 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NF2 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nf2 36
  • 89.78 (n)
  • 98.29 (a)
chicken
(Gallus gallus)
Aves NF2 36
  • 84.4 (n)
  • 95.12 (a)
NF2 37
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NF2 37
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nf2 36
  • 76.88 (n)
  • 89.84 (a)
zebrafish
(Danio rerio)
Actinopterygii nf2a 36
  • 76.11 (n)
  • 82.8 (a)
nf2a 37
  • 83 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010346 36
  • 59.09 (n)
  • 58.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mer 36
  • 57.8 (n)
  • 50.43 (a)
Mer 37
  • 46 (a)
OneToOne
Mer 38
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea nfm-1 38
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9769 37
  • 45 (a)
OneToOne
Species with no ortholog for NF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NF2 Gene

ENSEMBL:
Gene Tree for NF2 (if available)
TreeFam:
Gene Tree for NF2 (if available)

Paralogs for NF2 Gene

Paralogs for NF2 Gene

genes like me logo Genes that share paralogs with NF2: view

Variants for NF2 Gene

Sequence variations from dbSNP and Humsavar for NF2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs131255 -- 29,670,538(+) TGTGT(-/GT/GTGTGTGT)ATTTG intron-variant
rs131256 -- 29,672,581(+) tgctg(G/T)gatta intron-variant
rs140086 -- 29,681,372(+) GGGCC(A/G)CAGAG intron-variant
rs140087 -- 29,689,197(+) AAAAA(-/AAAA)GAGAA intron-variant
rs715490 -- 29,601,585(+) AGCAA(C/T)GATAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NF2 Gene

Variant ID Type Subtype PubMed ID
nsv834172 CNV Loss 17160897
nsv191315 CNV Insertion 16902084
dgv4953n71 CNV Loss 21882294
nsv515720 CNV Gain+Loss 19592680
nsv914965 CNV Loss 21882294

Relevant External Links for NF2 Gene

HapMap Linkage Disequilibrium report
NF2
Human Gene Mutation Database (HGMD)
NF2

Disorders for NF2 Gene

(3) OMIM Diseases for NF2 Gene (607379)

UniProtKB/Swiss-Prot

MERL_HUMAN
  • Neurofibromatosis 2 (NF2) [MIM:101000]: Genetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality. {ECO:0000269 PubMed:10090912, ECO:0000269 PubMed:10790209, ECO:0000269 PubMed:12709270, ECO:0000269 PubMed:20445339, ECO:0000269 PubMed:7666400, ECO:0000269 PubMed:7759081, ECO:0000269 PubMed:7913580, ECO:0000269 PubMed:8081368, ECO:0000269 PubMed:8230593, ECO:0000269 PubMed:8566958, ECO:0000269 PubMed:8698340, ECO:0000269 PubMed:9643284}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Schwannomatosis 1 (SWNTS1) [MIM:162091]: A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269 PubMed:18072270}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. {ECO:0000269 PubMed:12136076}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(73) Novoseek inferred disease relationships for NF2 Gene

Disease -log(P) Hits PubMed IDs
neurofibromatosis type 2 97.8 117
schwannoma 89.9 152
meningioma 87.7 185
neurofibromatosis 83.8 26
schwannomatosis 82.3 9

Genatlas disease for NF2 Gene

neurofibromatosis 2,autosomal dominant disorder characterized by tumors of neural-crest origin cells,with biallelic inactivation in schwannomas,meningiomas,mesotheliomas,and testicular anomalies such as presenile lens opacities and retinal hamartomas,(merlin/Schwannomin defect)

Relevant External Links for NF2

GeneTests
NF2
GeneReviews
NF2
Genetic Association Database (GAD)
NF2
Human Genome Epidemiology (HuGE) Navigator
NF2
Tumor Gene Database (TGDB):
NF2
genes like me logo Genes that share disorders with NF2: view

Publications for NF2 Gene

  1. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. (PMID: 8566958) Kluwe L. … Mautner V.-F. (Hum. Genet. 1996) 3 4 23
  2. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. (PMID: 7951231) Sainz J. … Pulst S.M. (Hum. Mol. Genet. 1994) 3 4 23
  3. Exon scanning for mutation of the NF2 gene in schwannomas. (PMID: 8012353) Jacoby L.B. … Gusella J.F. (Hum. Mol. Genet. 1994) 3 4 23
  4. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. (PMID: 8162073) Bianchi A.B. … Kley N. (Nat. Genet. 1994) 3 4 23
  5. Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities. (PMID: 10090912) Baser M.E. … Mautner V.-F. (Am. J. Hum. Genet. 1999) 3 4 23

Products for NF2 Gene

  • Addgene plasmids for NF2

Sources for NF2 Gene

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