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NF2 Gene

protein-coding   GIFtS: 72

GC22P028324
neurofibromin 2 (merlin)
(Previous name: neurofibromin 2 (bilateral acoustic neuroma) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for NF2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
ACN 2
BANF 2
Neurofibromin-2 3
SCH 2, 3
Schwannomerlin 3
Schwannomin 3
merlin 1, 2
schwannomerlin 2
schwannomin 2
Descriptions
Moesin-ezrin-radixin-like protein 3
moesin-ezrin-radixin like 2
moesin-ezrin-radizin-like protein 2
neurofibromin 2 2
neurofibromin 2 (bilateral acoustic neuroma) 1, 2
neurofibromin 2 (merlin) 2
External Ids
HGNC: 77731
Entrez Gene: 47712
UniProtKB: P352403
Ensembl: ENSG000001865757
Search outside databases for aliases for NF2 gene

Previous GC identifer: GC22P026695

Summaries
for NF2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for NF2:
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]

UniProtKB/Swiss-Prot: MERL_HUMAN, P35240
Function: Probably acts as a membrane stabilizing protein. May inhibit PI3 kinase by binding to
AGAP2 and impairing its stimulating activity

Gene Wiki entry for NF2 (Merlin)

Genomic Location
for NF2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the NF2 gene  

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

NF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P028324:     (about GC identifiers)

Start:
 28,329,563 bp from pter
End:
 28,424,587 bp from pter
Size:
 95,025 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011520.11  

Proteins
for NF2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: MERL_HUMAN, P35240 (See protein sequence)
Recommended Name: Merlin  
Size: 595 amino acids; 69690 Da
Subunit: Interacts with SLC9A3R1, HGS and AGAP2. Interacts with LAYN (By similarity). Interacts
with SGSM3
Subcellular location: Isoform 1: Cell projection, filopodium membrane; Peripheral membrane protein;
Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side.
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
Subcellular location: 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
Subcellular location: 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
Subcellular location: 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
PDB structures from and Proteopedia :
1H4R (3D)    
Secondary accessions: O95683 Q8WUJ2 Q969N0 Q969Q3 Q96T30 Q96T31 Q96T32 Q96T33 Q9BTW3 Q9UNG9 Q9UNH3
Q9UNH4
Alternative splicing: 10 isoforms:  P35240-1   P35240-2   P35240-3   P35240-4   P35240-5   P35240-6   P35240-7   P35240-8   
P35240-9   P35240-10   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (9 alternative transcripts): 
    NP_000259.1  NP_057502.2  NP_861546.1  NP_861966.1  NP_861967.1  NP_861968.1  NP_861969.1  NP_861970.1  
    NP_861971.1  


    ENSEMBL proteins: 
    ENSP00000384029 ENSP00000384797 ENSP00000335160 ENSP00000354529 ENSP00000355183 ENSP00000340626 
    ENSP00000380891 ENSP00000354897 ENSP00000335652 ENSP00000380922 ENSP00000344666 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (NF2 / Merlin)
    Human Recombinant Proteins from Abnova (NF2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/13 Gene Ontology (GO) cellular component terms (links to tree view) (see all 13 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726 ruffle IEA--
    GO:0005634 nucleus IDA10401006
    GO:0005730 nucleolus IDA9537418
    GO:0005737 cytoplasm IDA9537418
    GO:0005769 early endosome IDA10861283
    About this table

    Antibodies for NF2: 
    Invitrogen Antibodies for NF2
    Millipore Mono- and Polyclonal Antibodies for the study of NF2
    Sigma-Aldrich Antibody Arrays and Antibodies for NF2
    R&D Systems Antibodies for NF2 (NF2/Merlin)
    Cell Signaling Technology (CST) Antibodies for NF2  (Merlin)
    Antibodies from Abcam (NF2 / Merlin), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibodies for NF2

    Assays for NF2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for NF2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/12 InterPro domains/families (see all 12 ):
     IPR019748 FERM_central
     IPR018980 FERM_PH-like_C
     IPR019750 Band_41_sg
     IPR000798 Ez/rad/moesin
     IPR015788 Band_4.1_merlin


       GeneDecks  NF2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P35240

    ProtoNet protein and cluster: P35240

    2 Blocks protein families:
    IPB000299 Band 4.1 domain
    IPB000798 ERM family signature


    UniProtKB/Swiss-Prot: MERL_HUMAN, P35240
    Similarity: Contains 1 FERM domain

    Gene Function
    for NF2

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (NF2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 13): NM_016418

                  Applied Biosystems Silencer® siRNAs for NF2

                  Sigma-Aldrich siRNA and siRNA Panels for NF2  
                         Sigma-Aldrich shRNA Panels and shRNA for NF2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for NF2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 9): NM_000268
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 9): NM_000268
                                     untagged cDNA clones in CMV expression vector (see all 10): NM_000268 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000268

    UniProtKB/Swiss-Prot: MERL_HUMAN, P35240
    Function: Probably acts as a membrane stabilizing protein. May inhibit PI3 kinase by binding to
    AGAP2 and impairing its stimulating activity

    Genatlas biochemistry entry for NF2:
    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)

    3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Nf2):

    embryogenesislethality-prenatal/perinataltumorigenesis

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008092 cytoskeletal protein binding IEA--
    About this table

    Pathways & Interactions
    for NF2

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for NF2 (Maps provided by GeneGo):
     Putative integrins pathway. Part 1

       GeneDecks  NF2 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  NF2 


    5/47 Interacting proteins for NF2 (P352401 ENSP000003356523) via UniProtKB, MINT, and/or STRING (see all 47 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCHIP1Q9P0W51, ENSP000003372393EBI-1014472, EBI-1397509 STRING (score=.993)
    MED28Q9H2041, ENSP000002373803EBI-1014500, EBI-514199 STRING (score=.905)
    GTPBP4Q9BZE41EBI-1014472, EBI-1056249
    Ppp1r12a Ppp1r12a (xeno)Q107281EBI-1014472, EBI-918263
    Schip1 Schip1 (xeno)Q3TI531EBI-1014472, EBI-1397475
    About this table

    5/19 Gene Ontology (GO) biological process terms (links to tree view) (see all 19 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001707 mesoderm formation IEA--
    GO:0001953 negative regulation of cell-matrix adhesion TAS17210637
    GO:0006469 negative regulation of protein kinase activity IEA--
    GO:0007398 ectoderm development IEA--
    GO:0007605 sensory perception of sound IEA--
    About this table

    Drugs & Compounds
    for NF2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for NF2
    4 Novoseek chemical compound relationships for NF2 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxyribonucleic acid 18.94 1 8805149 (1)
    progesterone 0.00 6 11589430 (1), 15912882 (1), 15779237 (1), 11079777 (1)
    threonine 0.00 3 8035998 (1), 17174922 (1)
    tyrosine 0.00 7 15467451 (1), 11560899 (1), 15378014 (1), 7822301 (1) (see all 6)
    About this table


    Transcripts
    for NF2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (NF2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 13): NM_016418

                  Sigma-Aldrich siRNA and siRNA Panels for NF2  
                         Sigma-Aldrich shRNA Panels and shRNA for NF2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000268  NM_016418  NM_181825  NM_181828  NM_181829  NM_181830  NM_181831  NM_181832  
    NM_181833  

    REFSEQ mRNAs for NF2 gene (9 alternative transcripts): 

    NM_000268.3   NM_016418.5   NM_181825.2   NM_181828.2   NM_181829.2   NM_181830.2   NM_181831.2   NM_181832.2   
    NM_181833.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000268  NM_016418  NM_181825  NM_181828  NM_181829  NM_181830  NM_181831  NM_181832  
    NM_181833  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 9): NM_000268
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 9): NM_000268
                                     untagged cDNA clones in CMV expression vector (see all 10): NM_000268 

    Additional cDNA sequence: 

    AF113694.1 AF122827.1 AF369657.1 AF369658.1 AF369659.1 AF369660.1 AF369661.1 AF369662.1 
    AF369663.1 AF369664.1 AF369665.1 AF369666.1 AF369667.1 AF369668.1 AF369700.1 AF369701.1 
    AF369702.1 AF369703.1 AK092306.1 AK092515.1 AK297116.1 BC003112.1 BC007279.1 BC007336.2 
    BC010060.2 BC020257.1 BC131810.1 CR456530.1 CR595612.1 EF517524.1 L11353.1 L28839.1 
    S73854.1 Z22664.1 

    15 DOTS entries:

    DT.456374  DT.101970117  DT.100816368  DT.92004756  DT.75187896  DT.95266961  DT.102842611  DT.91815870 
    DT.100816363  DT.40105974  DT.100661906  DT.100705720  DT.75101995  DT.100816362  DT.75193819 

    24/243 AceView cDNA sequences (see all 243 ):

    AF369664 AF369701 AA350233 AF122827 AF369668 NM_181834 NM_181828 AF369663 
    BI870637 F01364 NM_181825 BM987760 AF123570 BC003112 AW150142 AF369667 
    AF369665 NM_181827 NM_181833 BU196359 H55159 CB143653 AF369662 CA434099 

    highest scoring ESTs for NF2:

    AA532452 L11353 AA128159 AA303289 AA322161 AA350233 AA351867 AA351868 AA379601 AA418421 

    Unigene Cluster for NF2:

    Neurofibromin 2 (merlin)
    Hs.187898  [show with all ESTs]
    Unigene Representative Sequence: NM_181832


    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for NF2 (see all 10 )

    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:                                -           -                                                                                   -     -     -               

    ExUns: 19c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      

    About this scheme

    ECgene alternative splicing isoforms for NF2

    11 Ensembl transcripts including schematic representations:
    ENST00000403435  ENST00000403999  ENST00000347330  ENST00000361166  ENST00000361676  ENST00000353887  
    ENST00000397789  ENST00000361452  ENST00000334961  ENST00000397822  ENST00000338641  

    Expression
    for NF2

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    NF2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for NF2

    1 / 2 / 3

    19 probe-sets matching NF2 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    53097_at2, 3 U95-B 1 1.00 1.00 0.55 1.01 AA532452 1.00 1.00 1.00 1

    		38007_at2, 3 U95-A 1 1.00 1.00 0.81 0.70 L11353 1.00 1.00 1.00 1

    		1894_f_at2, 3 U95-A 350 1.00 0.16 0.58 1.29 HG3236-HT3413 0.20 1.00 0.72 1

    		204991_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000268 0.60 1.00 0.82 1

    		238618_at2, 3 U133-B 1 1.00 1.00 -- -- BE313317 0.20 1.00 0.72 1

    		217150_s_at2, 3 U133-A 1 1.00 1.00 -- -- S73854 0.80 1.00 0.91 1

    		211091_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF122828 0.60 1.00 0.82 1

    		210767_at2, 3 U133-A 1 1.00 1.00 -- -- BC003112 0.60 1.00 0.82 1

    		218915_at2, 3 U133-A 1 1.00 1.00 -- -- NM_016418 0.60 1.00 0.82 1

    		211092_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF122827 0.80 1.00 0.91 1

    		211017_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF123570 0.40 1.00 0.76 1

    		204991_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		238618_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		217150_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211091_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		210767_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		218915_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211092_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211017_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  NF2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGTGGCTGTG

    SOURCE GeneReport for Unigene cluster: Hs.187898

    Expression variation in blood from EXPOLDB for NF2

    UniProtKB/Swiss-Prot: MERL_HUMAN, P35240
    Tissue specificity: Widely expressed. Isoforms 1 and 3 are predominant, isoforms 4, 5 and 6 are
    expressed moderately, isoform 8 is found at low frequency. Isoforms 7, 9 and 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

    Orthologs
    for NF2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for NF2 gene from 5/12 species (see all 12 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 NF21   -- neurofibromin 2 (merlin) 94.12(n)
    99.32(a)    		 477535  XM_860486.1  XP_865579.1 
    chimpanzee
    (Pan troglodytes)    		 NF21   -- neurofibromin 2 (merlin) 97.48(n)
    96.47(a)    		 458744  XM_001136298.1  XP_001136298.1 
    cow
    (Bos taurus)    		 NF21   -- neurofibromin 2 (merlin) 91.02(n)
    98.03(a)    		 540479  XM_611643.3  XP_611643.3 
    rat
    (Rattus norvegicus)    		 Nf21   -- neurofibromin 2 (merlin) 90.25(n)
    98.99(a)    		 25744  XM_341248.3  XP_341249.3 
    mouse
    (Mus musculus)    		 Nf21, 5 11 (0.25 cM)5
    		 neurofibromatosis 21, 5 90.36(n)1
    98.49(a)1    		 180161  NM_010898.31  NP_035028.21 
     AI3235645  AK0173435  (see all 35)
    About this table        Species with no ortholog for NF2

    ENSEMBL Gene Tree for NF2

    Paralogs
    for NF2

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    		  --

    SNPs/Variants
    for NF2

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/525 NCBI SNPs in NF2 are shown (see all 525 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 142)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs7154901,2
    		A,C,F,H,O28327574(+) AGCAAT/CGATAA 9 -- ng51 tfbs312Minor allele frequency- C:0.26NA EA MN EU WA 1256
    rs10085151,2
    		A,C,F,H,O28421145(+) AGTCAT/CTGTAG 7 -- ut3115Minor allele frequency- C:0.39NA EA EU WA 2634
    rs72916451,2
    		A,C,F,H28409213(+) AAAAGT/CAGGCA 9 -- int1 ut317Minor allele frequency- C:0.32NA EU EA WA 558
    rs81400961,2
    		A,C,F,H28421765(+) TTCACC/TTTCCC 7 -- ut31 ese3 trp311Minor allele frequency- T:0.03EU EA WA NA 982
    rs10348801,2
    		A,C,F,H28423259(+) CGTGTC/GTACTT 7 -- ut31 ese38Minor allele frequency- G:0.32EA NA EU WA 560
    rs25306801,2
    		C,F,H,O28421999(+) GAGGGC/TCACAG 7 -- ut31 ese36Minor allele frequency- T:0.36EA WA NA 440
    --
    rs110905761,2
    		C,F,H28424065(-) GCACAC/TGGCTA 7 -- ut31 ese34Minor allele frequency- T:0.11EU EA WA 412
    --
    rs110905741,2
    		C28329309(+) GACTGC/TCACTG 9 -- ng510--------
    --
    rs59975061,2
    		A28423026(+) gtctcA/Gaactc 7 -- ut31 ese30--------
    rs57634281,2
    		H28421959(+) ACCTAG/AGCTGT 7 -- ut31 ese34Minor allele frequency- A:0.00EU EA WA 420
    About this table

    HapMap Linkage Disequilibrium images for NF2 (up to first 250kb)

    Disorders & Mutations
    for NF2

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 607379   disorders: 101000  607174  162091  

    UniProtKB/Swiss-Prot: MERL_HUMAN, P35240

  • Defects in NF2 are the cause of neurofibromatosis 2 (NF2) [MIM:101000]; also known as
    central neurofibromatosis. NF2 is a 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
  • Defects in NF2 are a cause of schwannomatosis [MIM:162091]; also called congenital
    cutaneous neurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that
    usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual
    suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The
    hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or
    more of all NF2-affected individuals develop schwannomas in other locations, and dermal
    schwannomas may precede vestibular tumors in NF2-affected children. There have been several
    reports of individuals with multiple schwannomas who do not show evidence of vestibular
    schwannoma. Clinical report suggests that schwannomatosis is a clinical entity distinct from other
    forms of neurofibromatosis

    • 10/73 Novoseek disease relationships for NF2 gene (see all 73 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 2 97.81 175 8666669 (2), 9013725 (2), 15000491 (2), 12444102 (2) (see all 99)
    schwannoma 89.67 210 9752976 (8), 7529050 (5), 9403715 (5), 11773000 (5) (see all 81)
    meningioma 87.51 246 17319281 (8), 16612978 (6), 10606247 (5), 9055299 (5) (see all 81)
    neurofibromatosis 83.99 31 1293176 (2), 12191989 (2), 11388764 (1), 11391665 (1) (see all 24)
    schwannomatosis 83.64 18 18285426 (4), 16078050 (2), 12975302 (2), 9399891 (1)
    neuroma acoustic 81.07 44 17007372 (6), 19142715 (3), 19141242 (3), 9752976 (2) (see all 16)
    nervous system tumor 79.16 7 10790209 (1), 8909442 (1), 15797715 (1), 10720287 (1) (see all 5)
    neurofibromatosis type 1 72.93 18 9190537 (1), 10358844 (1), 11391665 (1), 15000491 (1) (see all 16)
    ependymoma 70.95 33 12011257 (5), 10433955 (5), 17509660 (4), 9100669 (4) (see all 10)
    ependymal tumors 70.87 1 10433955 (1)
    About this table

    Genatlas disease: NF2
    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)

    GeneTests: NF2
    Neurofibromatosis 2

    Human Gene Mutation Database: NF2
    Genetic Association Database: NF2
    Human Genome Epidemiology Navigator: NF2 (6 documents)
    Tumor Gene Database: NF2
    Breast Cancer Gene Database: NF2

    Medical News
    for NF2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    Publications
    for NF2

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/434 PubMed articles for NF2 gene (see all 434 ):

    Search for NF2

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NF2

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 4771 HGNC: 7773 AceView: NF2 Ensembl:ENSG00000186575 euGenes: HUgn4771
    ECgene: NF2 H-InvDB: NF2

    Other Databases showing NF2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing NF2

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for NF2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=NF2

    Licensable Technologies
    for NF2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for NF2

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for NF2:
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