Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= NF2 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: NF2 * **<color #00a2e8>Official Name</color>**: neurofibromin 2 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4771|4771]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P35240|P35240]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NF2&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NF2|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607379|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |FERM M| |FERM N| |ERM| |FERM C| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |Schwann cell proliferation| |regulation of hippo signaling| |negative regulation of tyrosine phosphorylation of STAT protein| |glial cell proliferation| |filopodium membrane| |ectoderm development| |negative regulation of receptor signaling pathway via JAK-STAT| |negative regulation of receptor signaling pathway via STAT| |lens fiber cell differentiation| |negative regulation of cell-matrix adhesion| |negative regulation of peptidyl-tyrosine phosphorylation| |positive regulation of stress fiber assembly| |cortical actin cytoskeleton| |cleavage furrow| |positive regulation of actin filament bundle assembly| |negative regulation of cell-substrate adhesion| |adherens junction| |regulation of stem cell proliferation| |mesoderm formation| |mesoderm morphogenesis| |apical part of cell| |cell body| |lens development in camera-type eye| |regulation of stress fiber assembly| |regulation of tyrosine phosphorylation of STAT protein| |hippocampus development| |odontogenesis of dentin-containing tooth| |regulation of neural precursor cell proliferation| |regulation of actomyosin structure organization| |regulation of actin filament bundle assembly| |ruffle membrane| |limbic system development| |formation of primary germ layer| |regulation of cell-matrix adhesion| |regulation of gliogenesis| |regulation of protein localization to nucleus| |odontogenesis| |mesoderm development| |regulation of receptor signaling pathway via JAK-STAT| |regulation of receptor signaling pathway via STAT| |cell-cell junction organization| |gastrulation| |negative regulation of MAPK cascade| |pallium development| |negative regulation of cell-cell adhesion| |lamellipodium| |positive regulation of supramolecular fiber organization| |regulation of cell-substrate adhesion| |gliogenesis| |cell junction organization| |positive regulation of cytoskeleton organization| |negative regulation of protein kinase activity| |negative regulation of kinase activity| |regulation of peptidyl-tyrosine phosphorylation| |early endosome| |telencephalon development| |negative regulation of cell migration| |regulation of actin filament organization| |actin binding| |negative regulation of cell adhesion| |negative regulation of cell motility| |negative regulation of transferase activity| |regulation of protein stability| |negative regulation of cellular component movement| |camera-type eye development| |neuron projection| |negative regulation of locomotion| |regulation of actin cytoskeleton organization| |regulation of supramolecular fiber organization| |eye development| |visual system development| |cytoskeleton| |sensory system development| |forebrain development| |regulation of actin filament-based process| |regulation of cell-cell adhesion| |negative regulation of protein phosphorylation| |negative regulation of phosphorylation| |actin cytoskeleton organization| |negative regulation of intracellular signal transduction| |positive regulation of cellular component biogenesis| |regulation of cellular protein localization| |regulation of cytoskeleton organization| |sensory organ development| |cell population proliferation| |negative regulation of phosphate metabolic process| |negative regulation of phosphorus metabolic process| |tissue morphogenesis| |embryonic morphogenesis| |actin filament-based process| |negative regulation of protein modification process| |positive regulation of organelle organization| |negative regulation of cell population proliferation| |epithelial cell differentiation| |regulation of cell adhesion| |perinuclear region of cytoplasm| |brain development| |regulation of MAPK cascade| |head development| |negative regulation of catalytic activity| |regulation of protein kinase activity| |regulation of neurogenesis| |regulation of cell migration| |nucleolus| |regulation of kinase activity| |anatomical structure formation involved in morphogenesis| |regulation of cell motility| |regulation of cellular localization| |regulation of nervous system development| |regulation of cell development| |animal organ morphogenesis| |regulation of cellular component biogenesis| |positive regulation of cell differentiation| |regulation of transferase activity| |embryo development| |central nervous system development| |regulation of locomotion| |regulation of cellular component movement| |regulation of protein localization| |negative regulation of cellular protein metabolic process| |negative regulation of protein metabolic process| |cytoskeleton organization| |epithelium development| |negative regulation of molecular function| |regulation of cell cycle| |positive regulation of cellular component organization| |negative regulation of signal transduction| |regulation of organelle organization| |negative regulation of cell communication| |negative regulation of signaling| |positive regulation of developmental process| |regulation of protein phosphorylation| |generation of neurons| |regulation of apoptotic process| |regulation of programmed cell death| |regulation of phosphorylation| |regulation of cell population proliferation| |negative regulation of response to stimulus| |neurogenesis| |regulation of cell death| |tissue development| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |regulation of cell differentiation| |regulation of intracellular signal transduction| |regulation of protein modification process| |membrane| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp99|NFN1 0.4μM R03 exp99]]|1.78| |[[:results:exp245|UM0011500 5μM R05 exp245]]|1.79| |[[:results:exp48|Mubritinib 0.2μM R01 exp48]]|2.03| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:r:rrm1|RRM1]]|0.44| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 3/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|1/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 10446 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.29 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='NF2 Expression in NALM6 Cells: 6.29'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1