Browse NF2

Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
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 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.; 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.
Domain PF00769 Ezrin/radixin/moesin family
PF09380 FERM C-terminal PH-like domain
PF00373 FERM central domain
PF09379 FERM N-terminal domain
Function

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

> Gene Ontology
 
Biological Process GO:0001654 eye development
GO:0001704 formation of primary germ layer
GO:0001707 mesoderm formation
GO:0001933 negative regulation of protein phosphorylation
GO:0001952 regulation of cell-matrix adhesion
GO:0001953 negative regulation of cell-matrix adhesion
GO:0002088 lens development in camera-type eye
GO:0006260 DNA replication
GO:0006275 regulation of DNA replication
GO:0006469 negative regulation of protein kinase activity
GO:0007015 actin filament organization
GO:0007160 cell-matrix adhesion
GO:0007162 negative regulation of cell adhesion
GO:0007259 JAK-STAT cascade
GO:0007260 tyrosine phosphorylation of STAT protein
GO:0007369 gastrulation
GO:0007398 ectoderm development
GO:0007423 sensory organ development
GO:0007498 mesoderm development
GO:0008156 negative regulation of DNA replication
GO:0010810 regulation of cell-substrate adhesion
GO:0010812 negative regulation of cell-substrate adhesion
GO:0014009 glial cell proliferation
GO:0014010 Schwann cell proliferation
GO:0014013 regulation of gliogenesis
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0018212 peptidyl-tyrosine modification
GO:0021537 telencephalon development
GO:0021543 pallium development
GO:0021761 limbic system development
GO:0021766 hippocampus development
GO:0022407 regulation of cell-cell adhesion
GO:0022408 negative regulation of cell-cell adhesion
GO:0030038 contractile actin filament bundle assembly
GO:0030336 negative regulation of cell migration
GO:0030900 forebrain development
GO:0031032 actomyosin structure organization
GO:0031589 cell-substrate adhesion
GO:0031647 regulation of protein stability
GO:0032231 regulation of actin filament bundle assembly
GO:0032233 positive regulation of actin filament bundle assembly
GO:0032956 regulation of actin cytoskeleton organization
GO:0032970 regulation of actin filament-based process
GO:0033673 negative regulation of kinase activity
GO:0034330 cell junction organization
GO:0034504 protein localization to nucleus
GO:0035329 hippo signaling
GO:0035330 regulation of hippo signaling
GO:0040013 negative regulation of locomotion
GO:0042063 gliogenesis
GO:0042326 negative regulation of phosphorylation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042476 odontogenesis
GO:0042503 tyrosine phosphorylation of Stat3 protein
GO:0042506 tyrosine phosphorylation of Stat5 protein
GO:0042509 regulation of tyrosine phosphorylation of STAT protein
GO:0042516 regulation of tyrosine phosphorylation of Stat3 protein
GO:0042518 negative regulation of tyrosine phosphorylation of Stat3 protein
GO:0042522 regulation of tyrosine phosphorylation of Stat5 protein
GO:0042524 negative regulation of tyrosine phosphorylation of Stat5 protein
GO:0042532 negative regulation of tyrosine phosphorylation of STAT protein
GO:0043010 camera-type eye development
GO:0043149 stress fiber assembly
GO:0043409 negative regulation of MAPK cascade
GO:0044089 positive regulation of cellular component biogenesis
GO:0045216 cell-cell junction organization
GO:0046425 regulation of JAK-STAT cascade
GO:0046426 negative regulation of JAK-STAT cascade
GO:0048332 mesoderm morphogenesis
GO:0050730 regulation of peptidyl-tyrosine phosphorylation
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation
GO:0051017 actin filament bundle assembly
GO:0051052 regulation of DNA metabolic process
GO:0051053 negative regulation of DNA metabolic process
GO:0051271 negative regulation of cellular component movement
GO:0051348 negative regulation of transferase activity
GO:0051492 regulation of stress fiber assembly
GO:0051493 regulation of cytoskeleton organization
GO:0051495 positive regulation of cytoskeleton organization
GO:0051496 positive regulation of stress fiber assembly
GO:0061351 neural precursor cell proliferation
GO:0061572 actin filament bundle organization
GO:0070306 lens fiber cell differentiation
GO:0072089 stem cell proliferation
GO:0072091 regulation of stem cell proliferation
GO:0097696 STAT cascade
GO:1900180 regulation of protein localization to nucleus
GO:1902532 negative regulation of intracellular signal transduction
GO:1904892 regulation of STAT cascade
GO:1904893 negative regulation of STAT cascade
GO:2000146 negative regulation of cell motility
GO:2000177 regulation of neural precursor cell proliferation
Molecular Function GO:0003779 actin binding
Cellular Component GO:0001726 ruffle
GO:0005769 early endosome
GO:0005938 cell cortex
GO:0015629 actin cytoskeleton
GO:0019898 extrinsic component of membrane
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0030863 cortical cytoskeleton
GO:0030864 cortical actin cytoskeleton
GO:0031252 cell leading edge
GO:0031253 cell projection membrane
GO:0031256 leading edge membrane
GO:0031527 filopodium membrane
GO:0032153 cell division site
GO:0032154 cleavage furrow
GO:0032155 cell division site part
GO:0032587 ruffle membrane
GO:0044297 cell body
GO:0044448 cell cortex part
GO:0045177 apical part of cell
GO:0097610 cell surface furrow
GO:0098858 actin-based cell projection
GO:0099568 cytoplasmic region
> KEGG and Reactome Pathway
 
KEGG hsa04390 Hippo signaling pathway
hsa04530 Tight junction
Reactome R-HSA-195258: RHO GTPase Effectors
R-HSA-5627123: RHO GTPases activate PAKs
R-HSA-162582: Signal Transduction
R-HSA-194315: Signaling by Rho GTPases
Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between NF2 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.

Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of NF2 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell logFC: 1.33; FDR: 0.001770 Sensitive to T cell-mediated killing
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NS NA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NS NA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NS NA/NS
24476824shRNAmelanomaB16Primary screen NA/NS NA/NS
24476824shRNAmelanomaB16Secondary screen NA/NS NA/NS
Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of NF2 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.0680.809
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-0.0140.993
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.1150.925
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.0650.802
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.2060.92
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.1140.965
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.0450.893
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 1511-0.060.967
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.1620.92
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.2560.817
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.5640.729
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.110.104
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of NF2 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27737.41.460.177
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27597.41.75.70.231
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21170001
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13110001
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160001
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38270001
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22130001
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of NF2. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of NF2. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by NF2.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of NF2. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of NF2 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between NF2 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolNF2
Nameneurofibromin 2 (merlin)
Aliases merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ......
Chromosomal Location22q12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting NF2 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.