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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 ... See more...
Aliases for NF2 Gene
Aliases for NF2 Gene
External Ids for NF2 Gene
- HGNC: 7773
- Entrez Gene: 4771
- Ensembl: ENSG00000186575
- OMIM: 607379
- UniProtKB: P35240
Previous GeneCards Identifiers for NF2 Gene
- GC22P026695
- GC22P028324
- GC22P029999
- GC22P012962
Summaries 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) is a Protein Coding gene. Diseases associated with NF2 include Neurofibromatosis, Type Ii and Meningioma, Radiation-Induced. Among its related pathways are Neuroscience and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is RDX.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for NF2 Gene
- HGNC(7773)
- Entrez Gene(4771)
- Ensembl(ENSG00000186575)
- OMIM(607379)
- UniProtKB(P35240)
- Open Targets Platform(ENSG00000186575)
- Monarch Initiative
- Search for NF2 at DataMed
- Search for NF2 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NF2 Gene
Genomics for NF2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NF2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NF2
- Top Transcription factor binding sites by QIAGEN in the NF2 gene promoter:
-
- AP-1
- STAT3
Genomic Locations for NF2 Gene
Genomic Locations for NF2 Gene
- chr22:29,603,556-29,698,600
- (GRCh38/hg38)
- Size:
- 95,045 bases
- Orientation:
- Plus strand
- chr22:29,999,545-30,094,589
- (GRCh37/hg19)
- Size:
- 95,045 bases
- Orientation:
- Plus strand
Genomic View for NF2 Gene
Genes around NF2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.2 by HGNC
- 22q12.2 by Entrez Gene
- 22q12.2 by Ensembl
NF2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NF2 Gene
Proteins for NF2 Gene
-
Protein details for NF2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35240-MERL_HUMAN
- Recommended name:
- Merlin
- Protein Accession:
- P35240
- 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. Interacts (via FERM domain) with NOP53; the interaction is direct (PubMed:21167305). Interacts with SCHIP1; the interaction is direct (PubMed:10669747).
Three dimensional structures from OCA and Proteopedia for NF2 Gene
Protein Expression for NF2 Gene
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 (PubMed:20178741). The dephosphorylation of Ser-518 favors the interaction with NOP53 (PubMed:21167305).
- Ubiquitinated by the CUL4A-RBX1-DDB1-DCAF1/VprBP E3 ubiquitin-protein ligase complex for ubiquitination and subsequent proteasome-dependent degradation.
-
Ubiquitination at Lys269, Lys364, and Lys396
- NX_P35240 (NX_P35240-1)
- Modification sites at PhosphoSitePlus
Other Protein References for NF2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Merlin Antibody and Immunotag™ Phospho-Merlin (Ser518) Antibody
- Creative Diagnostics Anti-NF2 monoclonal antibody, clone OGo38c
- Creative Biolabs Recombinant Anti-Human NF2 Antibody
- Novus Biologicals Antibodies for NF2
-
Abcam antibodies for NF2
- Invitrogen Antibodies for NF2 (AFLGC-Nf2)
- antibodies-online: Show 52 available NF2 Antibodies ranked by validation data
- Compare Top NF2 Antibodies
-
Recommended
- 144 WB Antibodies (anti-human)
- 23 IF (p) Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 3 IP Antibodies (anti-human)
- 99 WB Antibodies (anti-mouse)
- 23 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 79 WB Antibodies (anti-rat)
- 23 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
-
Boster Bio Antibodies for NF2
-
Santa Cruz Biotechnology (SCBT) Antibodies for NF2
- Sino Biological Antibodies for NF2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for NF2
- Origene Custom Protein Services for NF2
- antibodies-online: Show 6 available NF2 Proteins ranked by validation data
- Compare Top NF2 Proteins
-
Signalway Proteins for NF2
-
Abcam proteins for NF2
Assay Products
-
Signalway ELISA kits for NF2
No data available for DME Specific Peptides for NF2 Gene
Domains & Families for NF2 Gene
Gene Families for NF2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for NF2 Gene
- InterPro:
- Blocks:
-
- Band 4.1 domain
- ERM family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for NF2 Gene
- GenScript: Design optimal peptide antigens:
-
- Merlin variant 14 (A5A158_HUMAN)
- cDNA FLJ61733, highly similar to Merlin (B7Z4B6_HUMAN)
- Schwannomin (MERL_HUMAN)
- NF2 protein (Q16230_HUMAN)
- NF2 protein (Q16231_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NF2 Gene
Function for NF2 Gene
Molecular function for NF2 Gene
- 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.
- 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)
Phenotypes From GWAS Catalog for NF2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 9430655 |
| GO:0008092 | cytoskeletal protein binding | IEA | -- |
Phenotypes for NF2 Gene
- MGI mutant phenotypes for NF2:
-
inferred from 6 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for NF2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Decreased viability
- Synthetic lethal with Ras
- Increased gamma-H2AX phosphorylation
- Decreased cell migration
- Increased viability
- Decreased ionizing radiation sensitivity
- Decreased p24 protein expression
- Decreased Tat-dependent transcription
- Increased proliferation
- Synthetic lethal with cisplatin
Animal Models for NF2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NF2 - Select products 50% OFF >
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OriGene CRISPR knockouts for NF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NF2
miRNA for NF2 Gene
- miRTarBase miRNAs that target NF2
-
- hsa-let-7a-5p (MIRT001853)
- mmu-let-7b-5p (MIRT012132)
- hsa-miR-193b-3p (MIRT016579)
- hsa-miR-1229-3p (MIRT036332)
- hsa-miR-10a-5p (MIRT047749)
- hsa-miR-25-3p (MIRT087451)
- hsa-miR-32-5p (MIRT087452)
- hsa-miR-92a-3p (MIRT087453)
- hsa-miR-363-3p (MIRT087454)
- hsa-miR-367-3p (MIRT087455)
- hsa-miR-92b-3p (MIRT087456)
- hsa-miR-185-3p (MIRT254644)
- hsa-miR-423-5p (MIRT254645)
- hsa-miR-762 (MIRT254647)
- hsa-miR-3184-5p (MIRT254650)
- hsa-miR-4486 (MIRT254654)
- hsa-miR-4492 (MIRT254655)
- hsa-miR-4498 (MIRT254656)
- hsa-miR-4505 (MIRT254657)
- hsa-miR-5001-5p (MIRT254660)
- hsa-miR-5787 (MIRT254662)
- hsa-miR-6085 (MIRT254663)
- hsa-miR-6813-5p (MIRT254665)
- hsa-miR-1273e (MIRT472315)
- hsa-miR-4497 (MIRT472316)
- hsa-miR-25-5p (MIRT472317)
- hsa-miR-658 (MIRT472318)
- hsa-miR-4722-5p (MIRT472319)
- hsa-miR-1827 (MIRT472320)
- hsa-miR-6087 (MIRT472321)
- hsa-miR-219b-3p (MIRT472322)
- hsa-miR-4459 (MIRT472323)
- hsa-miR-4768-3p (MIRT472324)
- hsa-miR-940 (MIRT472325)
- hsa-miR-6893-5p (MIRT472326)
- hsa-miR-6808-5p (MIRT472327)
- hsa-miR-302f (MIRT472328)
- hsa-miR-4668-5p (MIRT498327)
- hsa-miR-31-5p (MIRT498328)
- hsa-miR-5681a (MIRT498329)
- hsa-miR-6779-5p (MIRT561858)
- hsa-miR-5589-3p (MIRT561859)
- hsa-miR-3922-5p (MIRT561860)
- mmu-miR-1961 (MIRT578151)
- mmu-miR-202-3p (MIRT578152)
- mmu-let-7f-5p (MIRT578153)
- mmu-let-7c-5p (MIRT578154)
- mmu-let-7a-5p (MIRT578155)
- mmu-let-7d-5p (MIRT578156)
- mmu-let-7i-5p (MIRT578157)
- mmu-let-7e-5p (MIRT578158)
- mmu-let-7g-5p (MIRT578159)
- mmu-miR-98-5p (MIRT578160)
- mmu-miR-1199-5p (MIRT578161)
- mmu-miR-3473a (MIRT578162)
- mmu-miR-185-5p (MIRT578163)
- mmu-miR-882 (MIRT578164)
- mmu-miR-3072-3p (MIRT591795)
- mmu-miR-344e-3p (MIRT593048)
- mmu-miR-344d-3p (MIRT593049)
- mmu-miR-410-3p (MIRT593050)
- mmu-miR-3473c (MIRT598069)
- mmu-miR-1894-5p (MIRT598070)
- mmu-miR-138-5p (MIRT598071)
- mmu-miR-1943-5p (MIRT598072)
- mmu-miR-741-3p (MIRT601957)
- hsa-miR-4312 (MIRT610906)
- hsa-miR-4696 (MIRT610907)
- hsa-miR-454-3p (MIRT610908)
- hsa-miR-4295 (MIRT610909)
- hsa-miR-3666 (MIRT610910)
- hsa-miR-301b-3p (MIRT610911)
- hsa-miR-301a-3p (MIRT610912)
- hsa-miR-130b-3p (MIRT610913)
- hsa-miR-130a-3p (MIRT610914)
- hsa-miR-362-3p (MIRT610915)
- hsa-miR-329-3p (MIRT610916)
- hsa-miR-8485 (MIRT610917)
- hsa-miR-1273g-3p (MIRT682965)
- hsa-miR-7703 (MIRT682966)
- hsa-miR-6729-5p (MIRT682967)
- hsa-miR-4649-5p (MIRT682968)
- hsa-miR-1273a (MIRT682969)
- hsa-miR-661 (MIRT682970)
- hsa-miR-3117-5p (MIRT682971)
- hsa-miR-4793-3p (MIRT682972)
- hsa-miR-766-3p (MIRT682973)
- hsa-miR-939-3p (MIRT682974)
- hsa-miR-6849-3p (MIRT682975)
- hsa-miR-508-5p (MIRT682976)
- hsa-miR-1228-5p (MIRT736184)
- hsa-miR-1253 (MIRT736545)
- hsa-miR-125a-5p (MIRT736642)
- hsa-miR-125b-5p (MIRT736655)
- hsa-miR-1285-3p (MIRT737029)
- hsa-miR-3187-5p (MIRT740924)
- hsa-miR-326 (MIRT741273)
- hsa-miR-330-5p (MIRT741331)
- hsa-miR-345-3p (MIRT741416)
- hsa-miR-378g (MIRT742765)
- hsa-miR-4319 (MIRT744024)
- hsa-miR-4488 (MIRT745239)
- hsa-miR-4732-3p (MIRT747958)
- hsa-miR-5189-5p (MIRT749884)
- hsa-miR-612 (MIRT752227)
- hsa-miR-670-5p (MIRT753673)
- hsa-miR-6770-5p (MIRT755287)
- hsa-miR-6860 (MIRT757858)
- hsa-miR-7113-3p (MIRT759094)
- hsa-miR-1207-5p (MIRT761265)
- hsa-miR-1471 (MIRT762740)
- hsa-miR-3148 (MIRT765013)
- hsa-miR-3917 (MIRT767652)
- hsa-miR-4281 (MIRT768363)
- hsa-miR-4434 (MIRT769096)
- hsa-miR-4449 (MIRT769183)
- hsa-miR-4516 (MIRT769929)
- hsa-miR-4690-5p (MIRT771089)
- hsa-miR-4736 (MIRT771812)
- hsa-miR-4746-5p (MIRT771912)
- hsa-miR-4763-3p (MIRT772022)
- hsa-miR-4783-3p (MIRT772267)
- hsa-miR-4795-5p (MIRT772492)
- hsa-miR-542-3p (MIRT773966)
- hsa-miR-5703 (MIRT775223)
- hsa-miR-6165 (MIRT775998)
- hsa-miR-6510-5p (MIRT776748)
- hsa-miR-7150 (MIRT781500)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NF2
- Browse OriGene Inhibitory RNA Products For NF2
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Clone Products
- Applied Biological Materials (abm): Clones for NF2 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG205376
- MG226996
- MR205376
- MR205376L3
- MR205376L4
- MR226996
- MR226996L3
- MR226996L4
- MR230458
- MR230590
- MR230605
- MR230606
- RC200690
- RC200690L3
- RC200690L4
- RC205883
- RC205883L1
- RC205883L2
- RC205883L3
- RC205883L4
- RC213173
- RC213173L3
- RC213173L4
- RC214284
- RC214284L3
- RC214284L4
- RC214514
- RC214514L3
- RC214514L4
- RC218738
- RC218738L3
- RC218738L4
- RC222374
- RC222374L3
- RC222374L4
- RC222433
- RC222433L3
- RC222433L4
- RC222487
- RC222487L3
- RC222487L4
- RG200690
- RG205883
- RG213173
- RG214284
- RG214514
- RG218738
- RG222374
- RG222433
- RG222487
- RR207644
- RR207644L3
- RR207644L4
- MR205376L3V
- MR205376L4V
- MR226996L3V
- MR226996L4V
- RC200690L3V
- RC200690L4V
- RC205883L1V
- RC205883L2V
- RC205883L3V
- RC205883L4V
- RC213173L3V
- RC213173L4V
- RC214284L3V
- RC214284L4V
- RC214514L3V
- RC214514L4V
- RC218738L3V
- RC218738L4V
- RC222374L3V
- RC222374L4V
- RC222433L3V
- RC222433L4V
- RC222487L3V
- RC222487L4V
- RR207644L3V
- RR207644L4V
- RC401909
- RC401910
- RC401911
- RC401912
- RC401913
- RC401914
- RC401915
- RC401916
- RC401917
- RC401918
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- RC401924
- RC401925
- RC401926
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- RC401939
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- RC401941
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- RC401943
- RC401944
- RC401945
- RC401946
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- RC401951
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- RC401957
- RC401958
- RC401959
- RC401960
- RC401961
- RC401962
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- RC401964
- RC401965
- RC401966
- RC401967
- RC401968
- RC401969
- RC401970
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- RC401975
- RC401976
- RC401977
- RC401978
- RC401979
- RC401980
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- RC401982
- RC401983
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- RC401988
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- RC401990
- RC401991
- RC401992
- RC401993
- RC401994
- RC401995
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NF2
- Addgene plasmids for NF2
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Cell Line Products
-
Horizon Cell Lines for NF2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 DCAF1 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| endosome | 4 |
| mitochondrion | 3 |
| extracellular | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (4)
- Plasma membrane (4)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001726 | ruffle | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 10401006 |
| GO:0005730 | nucleolus | IDA | 9537418 |
| GO:0005737 | cytoplasm | IDA | 9537418 |
| GO:0005769 | early endosome | IDA | 10861283 |
Pathways & Interactions for NF2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by Rho GTPases | ||
| 2 | Cytoskeletal Signaling | ||
| 3 | Neuroscience | ||
| 4 | Hippo signaling pathway | ||
| 5 | Hippo signaling pathway - multiple species | ||
Pathways by source for NF2 Gene
2 BioSystems pathways for NF2 Gene
4 Reactome pathways for NF2 Gene
3 KEGG pathways for NF2 Gene
1 Qiagen pathway for NF2 Gene
- Glioblastoma Multiforme
2 Cell Signaling Technology pathways for NF2 Gene
Interacting Proteins for NF2 Gene
Selected Interacting proteins:
P35240-MERL_HUMAN
ENSP00000344666
for NF2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NF2
SIGNOR curated interactions 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:0007398 | ectoderm development | IEA | -- |
| GO:0007420 | brain development | IEA | -- |
Drugs & Compounds for NF2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Histone Deacetylase Inhibitors | Pharma | 658 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for NF2 Gene
mRNA/cDNA for NF2 Gene
- 13 REFSEQ mRNAs :
- 42 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000334961 2020 nts (view in UCSC)
- ENST00000338641 5950 nts (view in UCSC)
- ENST00000353887 1845 nts (view in UCSC)
- ENST00000361166 1463 nts (view in UCSC)
- ENST00000361452 5884 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NF2 - Select products 50% OFF >
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-
Santa Cruz Biotechnology (SCBT) CRISPR for NF2
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for NF2 - Select products 50% OFF >
- * NF2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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-
- MG205376
- MG226996
- MR205376
- MR205376L3
- MR205376L4
- MR226996
- MR226996L3
- MR226996L4
- MR230458
- MR230590
- MR230605
- MR230606
- RC200690
- RC200690L3
- RC200690L4
- RC205883
- RC205883L1
- RC205883L2
- RC205883L3
- RC205883L4
- RC213173
- RC213173L3
- RC213173L4
- RC214284
- RC214284L3
- RC214284L4
- RC214514
- RC214514L3
- RC214514L4
- RC218738
- RC218738L3
- RC218738L4
- RC222374
- RC222374L3
- RC222374L4
- RC222433
- RC222433L3
- RC222433L4
- RC222487
- RC222487L3
- RC222487L4
- RG200690
- RG205883
- RG213173
- RG214284
- RG214514
- RG218738
- RG222374
- RG222433
- RG222487
- RR207644
- RR207644L3
- RR207644L4
- MR205376L3V
- MR205376L4V
- MR226996L3V
- MR226996L4V
- RC200690L3V
- RC200690L4V
- RC205883L1V
- RC205883L2V
- RC205883L3V
- RC205883L4V
- RC213173L3V
- RC213173L4V
- RC214284L3V
- RC214284L4V
- RC214514L3V
- RC214514L4V
- RC218738L3V
- RC218738L4V
- RC222374L3V
- RC222374L4V
- RC222433L3V
- RC222433L4V
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- RC222487L4V
- RR207644L3V
- RR207644L4V
- RC401909
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- RC401990
- RC401991
- RC401992
- RC401993
- RC401994
- RC401995
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NF2
- Addgene plasmids for NF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NF2
| 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
Expression for NF2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
This gene is overexpressed in Adrenal (19.4), Heart (9.9), and Brain (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NF2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NF2
SOURCE GeneReport for Unigene cluster for NF2 Gene:
Hs.187898mRNA 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.
Evidence on tissue expression from TISSUES for NF2 Gene
- Nervous system(4.8)
- Skin(4.6)
- Lung(4.5)
- Muscle(2.9)
- Kidney(2.8)
- Intestine(2.7)
- Heart(2.7)
- Blood(2.7)
- Liver(2.5)
- Eye(2.4)
- Thyroid gland(2.3)
- Pancreas(2.2)
- Bone(2.2)
- Stomach(2.2)
- Lymph node(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NF2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- integumentary
- nervous
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- ear
- eye
- head
- inner ear
- meninges
Limb:
- hand
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for NF2
-
OriGene qPCR primer pairs and template standards for NF2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for NF2 Gene
Orthologs for NF2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NF2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NF2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NF2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NF2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Nf2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nf2 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NF2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NF2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NF2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nf2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nf2a 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010346 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Mer 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | nfm-1 32 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9769 31 |
|
OneToOne |
- Species where no ortholog for NF2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for NF2: view image
Paralogs for NF2 Gene
(149) SIMAP similar genes for NF2 Gene using alignment to 9 proteins:
- MERL_HUMAN
- A5A158_HUMAN
- Q16230_HUMAN
- Q16231_HUMAN
- Q16232_HUMAN
- Q16233_HUMAN
- Q16276_HUMAN
- Q7KZ66_HUMAN
- Q9NRW8_HUMAN
- CHID1
- FAM78A
- c-myb
- ZNF737
- THEMIS
- PTPLA
- MYB
- FAM210A
- EML2
- CTSS
- COL24A1
- C4orf22
- WARS
- ZNF212
- ZCWPW2
- RUFY1
- ENSA
- DCTN5
- AURA2
- ZNF585B
- ZNF461
- TMEM44
- PLEKHH2
- KANK3
- ERBB2
- C4orf21
- LYRM4
- C16orf89
- UBIAD1
- GDA
- FAM227B
- CASP7
- TMEM14B
- SNX31
- LAMB4
- FCHO2
- EZR-ROS1
- EDRF1
- CLUL1
- C18orf8
- BTBD2
- DNMT1
- SH3PXD2A
- RBMS2
- PKN1
- MEFV
- KNSTRN
- HMGA2
- CFLAR
- ASB11
- ARMC4
- FAM175A
- UTY
- ZNF410
- SPECC1L-ADORA2A
- CATSPERG
- ZNF564
- SHANK2
- NDST4
- EIF2B3
- CLYBL
- PLA2G6
- ZNF20
- ZNF169
- RNF217
- FKBP3
- FAM3A
- DKFZp781K2028
- LINC00596
- ZNF763
- USP10
- TNFRSF17
- TMSB15B
- RENBP
- MMP13
- HKR1
- EIF3L
- BECN1
- B3GALNT1
- ADCK5
- ZNF546
- GCDH
- APOD
- ZNF28
- ZNF100
- RPE
- RHOA
- QRICH2
- POMZP3
- NSRP1
- DTYMK
- DAPL1
- ZNF547
- KLHL2
- AGBL3
- RDX
- ZNF738
- TSEN2
- RBBP4
- NEK4
- LEPROTL1
- KDM5B
- HECW1
- SLC3A1
- DCK
- MSN
- SEPT2
- AARSD1
- NPLOC4
- VPS33A
- SPAG11B
- SPAG11A
- RARS2
- FOPNL
- DKFZp434K213
- CHD5
- ATP6V0A1
- FAM129C
- ZNF611
- ZNF527
- IMPA1
- MED15
- CRCP
- AEBP2
- ZNF880
- ZNF83
- PHC3
- ZNF816
- SPATS2L
- MPP4
- GINS1
- ZNF283
- TMEM135
- OCEL1
- NUP88
- GLT8D2
- FAT3
- BEND2
- ANKRD26
- PPIL3
- EZR
- TCF4
- DNAPTP3
- ZNF468
- EI24
- MMAB
- MVK
- CCDC132
- ULK2
Variants for NF2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NF2 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 635372 | Not Provided: not provided | 29,639,213(+) | G/A | SPLICE_DONOR_VARIANT,INTRON_VARIANT | |
| 638486 | Uncertain Significance: Neurofibromatosis, type 2; Schwannomatosis 1; Meningioma, familial | 29,604,002(+) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 639228 | Uncertain Significance: Neurofibromatosis, type 2 | 29,658,259(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 639272 | Uncertain Significance: Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome | 29,681,552(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 639691 | Uncertain Significance: Neurofibromatosis, type 2 | 29,639,175(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT |
Residual Variation Intolerance Score:
14.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.96;
19.90% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NF2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NF2 Gene
Disorders for NF2 Gene
(125) MalaCards diseases for NF2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neurofibromatosis, type ii |
|
|
| meningioma, radiation-induced |
|
|
| schwannomatosis 1 |
|
|
| spindle cell sarcoma |
|
|
| meningioma, familial |
|
|
Search NF2 in MalaCards
View complete list of genes associated with diseases
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:10669747, ECO:0000269 PubMed:10790209, ECO:0000269 PubMed:12709270, ECO:0000269 PubMed:20178741, 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.
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)
Additional Disease Information for NF2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for NF2 Gene
- VprBP targets Merlin to the Roc1-Cul4A-DDB1 E3 ligase complex for degradation. (PMID: 18332868) Huang J … Chen J (Oncogene 2008) 3 4 23
- Genotyping of patients with sporadic and radiation-associated meningiomas. (PMID: 15824172) Sadetzki S … Friedman E (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005) 3 23 41
- The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product. (PMID: 11856822) Kang BS … Derewenda ZS (Acta crystallographica. Section D, Biological crystallography 2002) 3 4 23
- Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. (PMID: 10669747) Goutebroze L … Thomas G (Molecular and cellular biology 2000) 3 4 23
- NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. (PMID: 9430655) Murthy A … Ramesh V (The Journal of biological chemistry 1998) 3 4 23
ExternalLinks
Products for NF2 Gene
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- Browse OriGene Inhibitory RNA Products For NF2
- OriGene qPCR primer pairs for NF2
- OriGene qPCR primer pairs and template standards for NF2
- OriGene CRISPR knockouts for NF2
- MG205376
- MG226996
- MR205376
- MR205376L3
- MR205376L4
- MR226996
- MR226996L3
- MR226996L4
- MR230458
- MR230590
- MR230605
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- RC200690
- RC200690L3
- RC200690L4
- RC205883
- RC205883L1
- RC205883L2
- RC205883L3
- RC205883L4
- RC213173
- RC213173L3
- RC213173L4
- RC214284
- RC214284L3
- RC214284L4
- RC214514
- RC214514L3
- RC214514L4
- RC218738
- RC218738L3
- RC218738L4
- RC222374
- RC222374L3
- RC222374L4
- RC222433
- RC222433L3
- RC222433L4
- RC222487
- RC222487L3
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- RG200690
- RG205883
- RG213173
- RG214284
- RG214514
- RG218738
- RG222374
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- RG222487
- RR207644
- RR207644L3
- RR207644L4
- MR205376L3V
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- MR226996L3V
- MR226996L4V
- RC200690L3V
- RC200690L4V
- RC205883L1V
- RC205883L2V
- RC205883L3V
- RC205883L4V
- RC213173L3V
- RC213173L4V
- RC214284L3V
- RC214284L4V
- RC214514L3V
- RC214514L4V
- RC218738L3V
- RC218738L4V
- RC222374L3V
- RC222374L4V
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- RR207644L3V
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- RC401909
- RC401910
- RC401911
- RC401912
- RC401913
- RC401914
- RC401915
- RC401916
- RC401917
- RC401918
- RC401919
- RC401920
- RC401921
- RC401922
- RC401923
- RC401924
- RC401925
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- RC401940
- RC401941
- RC401942
- RC401943
- RC401944
- RC401945
- RC401946
- RC401947
- RC401948
- RC401949
- RC401950
- RC401951
- RC401952
- RC401953
- RC401954
- RC401955
- RC401956
- RC401957
- RC401958
- RC401959
- RC401960
- RC401961
- RC401962
- RC401963
- RC401964
- RC401965
- RC401966
- RC401967
- RC401968
- RC401969
- RC401970
- RC401971
- RC401972
- RC401973
- RC401974
- RC401975
- RC401976
- RC401977
- RC401978
- RC401979
- RC401980
- RC401981
- RC401982
- RC401983
- RC401984
- RC401985
- RC401986
- RC401987
- RC401988
- RC401989
- RC401990
- RC401991
- RC401992