NF2 Gene
protein-coding GIFtS: 66
GCID: GC22P029999
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neurofibromin 2 (merlin)(Previous name: neurofibromin 2 (bilateral acoustic neuroma) )
| |
Aliases
for NF2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Neurofibromin 2 (Merlin)1 2 | | Moesin-Ezrin-Radizin-Like Protein2 | | Merlin1 | | Neurofibromin-23 | | Neurofibromin 2 (Bilateral Acoustic Neuroma)1 2 | | Schwannomerlin3 | | Moesin-Ezrin-Radixin-Like Protein2 3 | | Schwannomin3 | | SCH2 3 | | Neurofibromin-23 | | ACN2 | | Schwannomerlin3 | | BANF2 | | Schwannomin3 | | Moesin-Ezrin-Radixin Like2 | | |
Export aliases for NF2 gene to outside databasesPrevious GC identifers: GC22P026695 GC22P028324 GC22P012962 |
Summaries
for NF2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NF2:
This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins thatare thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown tointeract with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulatingion transport. This gene is expressed at high levels during embryonic development; in adults, significant expressionis found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated withneurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Twopredominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. (provided byRefSeq, Jul 2008)
UniProtKB/Swiss-Prot: MERL_HUMAN, P35240Function: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotalrole in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergisticallyinduce 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 AGAP2and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting theCUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex
Gene Wiki entry for NF2 (Merlin)
|
Genomic Views
for NF2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NF2 gene promoter:
AP-1 STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for NF2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NF2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q12.2 Ensembl cytogenetic band: 22q12.2 HGNC cytogenetic band: 22q12.2NF2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P029999: view genomic region
(about GC identifiers)
Start:
|
29,999,545 bp from pter |
End:
|
30,094,589 bp from pter |
Size:
|
95,045 bases |
Orientation:
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plus strand |
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Proteins
for NF2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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. Interacts(via FERM domain) with MPP1. Interacts with WWC1. Interacts with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-proteinligase complex. The unphosphorylated form interacts (via FERM domain) with VPRBP/DCAF1
Subcellular location: 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 cellline, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining inruffling membranes and filopodia. Colocalizes with MPP1 in non-myelin-forming Schwann cells. Binds with VPRBP in thenucleus. The intramolecular association of the FERM domain with the C-terminal tail promotes nuclear accumulation. Theunphosphorylated form accumulates predominantly in the nucleus while the phosphorylated form is largely confined tothe non-nuclear fractions
Subcellular location: Isoform 7: Cytoplasm, perinuclear region. Cytoplasmic granule. Note=Observed in cytoplasmicgranules 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 cytoplasmicgranules 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 isfound homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes andfilopodia
2 PDB 3D structures from  and Proteopedia  for NF2:1H4R (3D)
3U8Z (3D)
Secondary accessions: O95683 Q8WUJ2 Q969N0 Q969Q3 Q96T30 Q96T31 Q96T32 Q96T33 Q9BTW3 Q9UNG9 Q9UNH3Q9UNH4Alternative splicing: 10 isoforms: P35240-1 P35240-2 P35240-3 P35240-4 P35240-5 P35240-6 P35240-7 P35240-8 P35240-9 P35240-10 Explore the universe of human proteins at neXtProt for NF2: NX_P35240
Post-translational modifications:
Phosphorylation of Ser-518 inhibits nuclear localization by disrupting the intramolecular association of the FERMdomain with the C-terminal tail1
Ubiquitinated by the CUL4A-RBX1-DDB1-DCAF1/VprBP E3 ubiquitin-protein ligase complex for ubiquitination and subsequentproteasome-dependent degradation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P35240
NF2 Protein expression data from MOPED and PaxDb: About this image 
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: ENSP00000344666 ENSP00000384029 ENSP00000354897 ENSP00000384797 ENSP00000335652 ENSP00000340626 ENSP00000395885 ENSP00000380891 ENSP00000355183 ENSP00000354529 ENSP00000409921 ENSP00000335160
Human Recombinant Protein Products:
Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16): About this table
NF2 for ontologies About GeneDecksing
NF2 Antibody Products:
Assay Products for NF2: |
Protein
Domains /
Families
for NF2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NF2 for domains About GeneDecksing
5/13 InterPro domains/families (see all 13):Graphical View of Domain Structure for InterPro Entry P35240ProtoNet protein and cluster: P35240 2 Blocks protein families: IPB000299 Band 4.1 domain IPB000798 ERM family signature
UniProtKB/Swiss-Prot: MERL_HUMAN, P35240Similarity: Contains 1 FERM domain |
Function
for NF2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MERL_HUMAN, P35240Function: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotalrole in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergisticallyinduce 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 AGAP2and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting theCUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex Genatlas biochemistry entry for NF2:ezrin-moesin-radixin-like,merlin,ezrin,moesin,radixin-like (ERM) family member responding and participating inreorganization of membrane-cytoplasmic interactions,with several alternatively spliced isoforms,essential in mouse forextraembryonic development immediatly prior to gastrulation,involved in the maintenance of normal cytoskeletalorganization,involved in tumor suppression (see TSG22A)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NF2 (see all 12)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NF2 (see all 10)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 9): NF2 (NM_000268) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NF2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NF2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
NF2 for ontologies About GeneDecksing
6 GenomeRNAi human phenotypes for NF2:
Animal Models:
Mouse knock-outs for NF2: Nf2tm2.1Gth Nf2tm1Tyj
15/16 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Nf2) (see all 16):
NF2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for NF2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cytoskeletal Signaling | | | 2 | Glioblastoma Multiforme | | | 3 | Neuroscience | | | 4 | Development_CNTF receptor signaling | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for NF2
2 
Cell Signaling Technology (CST) Pathways for NF2
1  BioSystems Pathway for NF2
NF2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NF2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/91 Interacting proteins for NF2 (P352401, 3 ENSP000003446664) via UniProtKB, MINT, STRING, and/or I2D (see all 91)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| SLC9A3R1 | O147451, 3, ENSP000002626134 | EBI-1014500,EBI-349787 I2D:
score=6 STRING: ENSP00000262613 | | MED28 | Q9H2041, 3, ENSP000002373804 | EBI-1014500,EBI-514199 I2D:
score=3 STRING: ENSP00000237380 | | GTPBP4 | Q9BZE41, 3, ENSP000003540404 | EBI-1014472,EBI-1056249 I2D:
score=1 STRING: ENSP00000354040 | | AMOT | Q4VCS51, 3, ENSP000003610274 | EBI-1014472,EBI-2511319 I2D:
score=2 STRING: ENSP00000361027 | | EZR | P153113, ENSP000003389344 | I2D:
score=6 STRING: ENSP00000338934 |
About this table
Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table
NF2 for ontologies About GeneDecksing
|
Drugs & Compounds
for NF2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
NF2 for compounds About GeneDecksing
 Browse Tocris compounds for NF2
10/12 Novoseek chemical compound relationships for NF2 gene (see all 12) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| frovatriptan |
72 |
9 |
15713228 (2), 15746282 (1), 15840706 (1), 15124101 (1) (see all 8) |
| ranolazine |
46.6 |
3 |
18071302 (1), 18373327 (1), 19371824 (1), 20357382 (1) |
| deoxyribonucleic acid |
17.1 |
1 |
8805149 (1) |
| tyrosine |
3.2 |
7 |
15467451 (1), 11560899 (1), 15378014 (1), 7822301 (1) (see all 6) |
| progesterone |
0 |
6 |
11589430 (1), 15912882 (1), 15779237 (1), 11079777 (1) |
| threonine |
0 |
3 |
8035998 (1), 17174922 (1) |
| agar |
0 |
6 |
15605183 (3), 8089100 (1), 12898284 (1) |
| cytochalasin d |
0 |
3 |
9425229 (1), 15087385 (1) |
| paraffin |
0 |
2 |
9676422 (1) |
| serine |
0 |
3 |
8035998 (1), 17174922 (1) |
Search CenterWatch for drugs/clinical trials and news about NF2 / MERL
|
Transcripts
for NF2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NF2 gene (13 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 NM_181826.1 NM_181827.1 NM_181834.1 NM_181835.1 Unigene Cluster for NF2: Neurofibromin 2 (merlin) Hs.187898 [show with all ESTs]Unigene Representative Sequence: NM_18183212 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000338641(uc003agf.4 uc003agb.4 uc003agc.4 uc003agd.4 uc003agg.4 uc003aga.4 uc003age.4 uc003agh.4 uc003agi.4 uc003agj.4)
ENST00000403435(uc010gvp.3) ENST00000361452(uc011akq.2) ENST00000403999(uc003afy.4 uc003afz.4)
ENST00000334961 ENST00000353887 ENST00000432151 ENST00000397789 ENST00000361676
ENST00000361166 ENST00000413209 ENST00000347330
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NF2 (see all 12)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NF2 (see all 10)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 9): NF2 (NM_000268) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NF2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NF2 |
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 BC071653.1 BC131810.1 CR456530.1 EF517524.1 L11353.1 L28839.1 S73854.1 Z22664.1 15 DOTS entries: DT.456374 DT.101970117 DT.100816368 DT.92004756 DT.75187896 DT.102842611 DT.95266961 DT.91815870 DT.100816363 DT.40105974 DT.100661906 DT.100705720 DT.75101995 DT.100816362 DT.75193819 24/243 AceView cDNA sequences (see all 243): AF369665 AF369667 AF122828 AF369701 BU179691 AF369700 CB162641 NM_181835 AW150142 BQ896410 BE740613 NM_181825 AF369659 BE907723 BU857816 CR456530 AF123570 NM_181832 AF369663 CR595612 NM_181830 BU174818 F01364 AF369668
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for NF2 (see all 10) About this scheme
| 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: | | |
ECgene alternative splicing isoforms for NF2
|
Expression
for NF2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTGGCTGTG
About this image
See NF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NF2
SOURCE GeneReport for Unigene cluster: Hs.187898
UniProtKB/Swiss-Prot: MERL_HUMAN, P35240Tissue specificity: Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 areexpressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed inadult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetalbrain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels
SABiosciences Expression via Pathway-Focused PCR Arrays including NF2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NF2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NF2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NF2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NF2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF2 |
Orthologs
for NF2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for NF2 gene from 6/21 species (see all 21) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
NF21 |
neurofibromin 2 (bilateral acoustic neuroma) |
84.4(n)
95.12(a) |
|
395158 NM_204497.2 NP_989828.2 |
lizard
(Anolis carolinensis) |
Reptilia |
---- |
-- |
94(a)91(a) |
1 ↔ many1 ↔ many |
GL343417.1(36616-41958) GL343393.1(307486-309261) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BU910407.12 |
-- |
78.6(n) |
|
BU910407.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
nf2a1 |
neurofibromin 2a (merlin) |
76.11(n)
82.8(a) |
|
561184 NM_001128707.1 NP_001122179.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Mer1 , 3 |
axis specification cytoskeletal protein
binding3
Merlin1 |
46(a)3
58.25(n)1
50.87(a)1 |
|
1 18E13
329791 NM_078689.31 NP_523413.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
nfm-13 |
-- |
43(a) |
|
III(6231645-6235380) -- |
ENSEMBL Gene Tree for NF2 (if available)
TreeFam Gene Tree for NF2 (if available) |
Paralogs
for NF2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NF2 gene
- MSN2 FRMD4A2 FRMD4B2 RDX2 EZR2 C1orf1062
18/137 SIMAP similar genes for NF2 using alignment to 9 protein entries: MERL_HUMAN (see all proteins)
(see all similar genes):CHID1 FAM78A C4orf22 COL24A1 EML2 FAM210A
MYB PTPLA THEMIS c-myb WARS AURA2
DCTN5 ENSA RUFY1 ZCWPW2 ZNF212 C4orf21
NF2 for paralogs About GeneDecksing
|
Genomic Variants
for NF2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NF2 (29999545 - 30094589 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NF2: --
Human Gene Mutation Database (HGMD): NF2
| 5/10 SABiosciences Cancer Mutation PCR Assays for NF2 (see all 10): |
| 5 SABiosciences Cancer Mutation PCR Arrays containing NF2: |
| 1 SABiosciences qBiomarker Copy Number PCR Array containing NF2: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NF2 |
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Disorders
/ Diseases
for NF2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
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NF2 for disorders About GeneDecksing
OMIM gene information: 607379
OMIM 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 centralneurofibromatosis. NF2 is a genetic disorder characterized by bilateral vestibular schwannomas (formerly calledacoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inheritedin an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nervedysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologicallybenign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality Defects in NF2 are a cause of schwannomatosis (SCHWA) [MIM:162091]; also known as congenital cutaneousneurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwisenormal 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-nerveschwannomas; but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and dermalschwannomas may precede vestibular tumors in NF2-affected children. There have been several reports of individualswith multiple schwannomas who do not show evidence of vestibular schwannoma. Clinical report suggests thatschwannomatosis is a clinical entity distinct from other forms of neurofibromatosis Defects in NF2 may be a cause of mesothelioma malignant (MESOM) [MIM:156240]. An aggressive neoplasm of theserosal 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 exposureto asbestos
20/76  diseases for NF2 (see all 76): About MalaCardsacoustic neuroma spinal cord ependymoma neurofibromatosis neuroma
malignant peripheral nerve sheath tumor meningitis multiple endocrine neoplasia plexiform schwannoma
gastrointestinal stromal tumor refractive error plexiform neurofibroma cellular schwannoma
anaplastic ependymoma neurofibrosarcoma ependymoma meningioma
neurofibromatosis type 5 fibrous meningioma facial paralysis soft tissue sarcoma
8 diseases from the University of Copenhagen DISEASES database for NF2:Neurofibromatosis Neurilemmoma Meningioma Neurofibroma
Malignant mesothelioma Facial paralysis Spinal meningioma Malignant glioma 10/73 Novoseek disease relationships for NF2 gene (see all 73) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| neurofibromatosis type 2 |
97.8 |
188 |
8666669 (2), 9013725 (2), 15000491 (2), 20054405 (2) (see all 99) |
| schwannoma |
89.9 |
215 |
9752976 (8), 7529050 (5), 9403715 (5), 11773000 (5) (see all 85) |
| meningioma |
87.7 |
258 |
17319281 (8), 16612978 (6), 10606247 (5), 9055299 (5) (see all 86) |
| neurofibromatosis |
83.8 |
31 |
1293176 (2), 12191989 (2), 11388764 (1), 11391665 (1) (see all 24) |
| schwannomatosis |
82.3 |
18 |
18285426 (4), 16078050 (2), 12975302 (2), 9399891 (1) |
| neuroma acoustic |
81.1 |
48 |
17007372 (6), 19142715 (3), 19141242 (3), 9752976 (2) (see all 18) |
| nervous system tumor |
78.4 |
7 |
10790209 (1), 8909442 (1), 15797715 (1), 10720287 (1) (see all 5) |
| neurofibromatosis type 1 |
72.6 |
18 |
9190537 (1), 10358844 (1), 11391665 (1), 15000491 (1) (see all 16) |
| ependymoma |
71.9 |
33 |
12011257 (5), 10433955 (5), 17509660 (4), 9100669 (4) (see all 10) |
| ependymal tumors |
69.3 |
1 |
10433955 (1) |
Genatlas disease: NF2 neurofibromatosis 2,autosomal dominant disorder characterized by tumors of neural-crest origin cells,with biallelicinactivation in schwannomas,meningiomas,mesotheliomas,and testicular anomalies such as presenile lens opacities andretinal hamartomas,(merlin/Schwannomin defect)
GeneTests: NF2
Neurofibromatosis 2
Genetic Association Database (GAD): NF2
Human Genome Epidemiology (HuGE) Navigator: NF2 (11 documents)
Tumor Gene Database (TGDB): NF2
Export disorders for NF2 gene to outside databases
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Publications
for NF2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
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PubMed articles for NF2 gene, integrated from 9 sources (see all 518):
(articles sorted by number of sources associating them with NF2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- VprBP targets Merlin to the Roc1-Cul4A-DDB1 E3 ligase complex for degradation. (PubMed id 18332868)1, 2, 9 Huang J. and Chen J. (2008)
- Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. (PubMed id 7951231)1, 2, 9 Sainz J.... Pulst S.M. (1994)
- The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product. (PubMed id 11856822)1, 2, 9 Kang B.S.... Derewenda Z.S. (2002)
- Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. (PubMed id 20178741)1, 2, 9 Li W....Giancotti F.G. (2010)
- Genotyping of patients with sporadic and radiation-associated meningiomas. (PubMed id 15824172)1, 4, 9 Sadetzki S....Friedman E. (2005)
- Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L. (PubMed id 15598747)1, 2, 9 Rong R.... Ye K. (2004)
- Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities. (PubMed id 10090912)1, 2, 9 Baser M.E.... Mautner V.-F. (1999)
- NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. (PubMed id 9430655)1, 2, 9 Murthy A.... Ramesh V. (1998)
- A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. (PubMed id 8566958)1, 2, 9 Kluwe L. and Mautner V.-F. (1996)
- Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. (PubMed id 8162073)1, 2, 9 Bianchi A.B.... Kley N. (1994)
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External Searches for NF2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing NF2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing NF2 gene
(According to HUGE)
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Specialized Databases showing NF2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for NF2 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for NF2 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NF2 |
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| | |
About This Section
| Patent Information for NF2 gene:
Search GeneIP for patents involving NF2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for NF2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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 | |
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| | |  | OriGene Antibodies for NF2 | | OriGene shRNA RFP for NF2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NF2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NF2 | | | OriGene Protein Over-expression Lysate for NF2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for NF2 | | OriGene 3'-UTR Clone for NF2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NF2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NF2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for NF2 | | OriGene Custom Protein Services for NF2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NF2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NF2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NF2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NF2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NF2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NF2 |
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| | Antibodies & Assays for NF2 (merlin) |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NF2 |
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