Summary | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | 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. |
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 |
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 | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
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. |
There is no record. |
Summary | |
---|---|
Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
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
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Statistical results of NF2 in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
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 |
Points in the above scatter plot represent the expression difference of NF2 in various data sets.
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Points in the above scatter plot represent the mutation difference of NF2 in various data sets.
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Summary | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
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. |
Summary | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
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 |
Summary | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
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 |
Summary | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of NF2 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between NF2 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
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Symbol | NF2 |
Name | neurofibromin 2 (merlin) |
Aliases | merlin; moesin-ezrin-radixin like; schwannomin; neurofibromin 2 (bilateral acoustic neuroma); BANF; SCH; moe ...... |
Chromosomal Location | 22q12.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting NF2 collected from DrugBank database. |
There is no record. |