NF2
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| neurofibromin 2 | MIM:607379 | Ensembl:ENSG00000186575 | HGNC:HGNC:7773 | PA31580 | 22q12.2 |
GO terms in NF2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005769 | early endosome |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005856 | cytoskeleton |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005912 | adherens junction |
| CC | HDA | GO:0016020 | membrane |
| CC | IEA | GO:0030027 | lamellipodium |
| CC | IEA | GO:0030864 | cortical actin cytoskeleton |
| CC | IEA | GO:0031527 | filopodium membrane |
| CC | IEA | GO:0032154 | cleavage furrow |
| CC | IEA | GO:0032587 | ruffle membrane |
| CC | IEA | GO:0043005 | neuron projection |
| CC | IEA | GO:0044297 | cell body |
| CC | IEA | GO:0045177 | apical part of cell |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| BP | IEA | GO:0001707 | mesoderm formation |
| BP | TAS | GO:0001953 | negative regulation of cell-matrix adhesion |
| BP | IEA | GO:0006469 | negative regulation of protein kinase activity |
| BP | IEA | GO:0007398 | ectoderm development |
| BP | IDA | GO:0008285 | negative regulation of cell proliferation |
| BP | IMP | GO:0008285 | negative regulation of cell proliferation |
| BP | IMP | GO:0014010 | Schwann cell proliferation |
| BP | IEA | GO:0014013 | regulation of gliogenesis |
| BP | IEA | GO:0021766 | hippocampus development |
| BP | IDA | GO:0022408 | negative regulation of cell-cell adhesion |
| BP | IMP | GO:0030036 | actin cytoskeleton organization |
| BP | TAS | GO:0030336 | negative regulation of cell migration |
| BP | IEA | GO:0031647 | regulation of protein stability |
| BP | IMP | GO:0035330 | regulation of hippo signaling |
| BP | IEA | GO:0042475 | odontogenesis of dentin-containing tooth |
| BP | IDA | GO:0042532 | negative regulation of tyrosine phosphorylation of STAT protein |
| BP | IMP | GO:0042981 | regulation of apoptotic process |
| BP | IEA | GO:0043409 | negative regulation of MAPK cascade |
| BP | IEA | GO:0045216 | cell-cell junction organization |
| BP | IEA | GO:0045597 | positive regulation of cell differentiation |
| BP | IDA | GO:0046426 | negative regulation of JAK-STAT cascade |
| BP | IMP | GO:0051496 | positive regulation of stress fiber assembly |
| BP | IMP | GO:0051726 | regulation of cell cycle |
| BP | IEA | GO:0070306 | lens fiber cell differentiation |
| BP | IEA | GO:0072091 | regulation of stem cell proliferation |
| BP | IEA | GO:1900180 | regulation of protein localization to nucleus |
| BP | IEA | GO:2000177 | regulation of neural precursor cell proliferation |
| MF | IEA | GO:0003779 | actin binding |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: NF2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NF2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| reactome | R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| reactome | R-HSA-5627123 | RHO GTPases activate PAKs |
| pid | erbb2erbb3pathway | ErbB2/ErbB3 signaling events |
| kegg | hsa04390 | Hippo signaling pathway - Homo sapiens (human) |
| kegg | hsa04392 | Hippo signaling pathway - multiple species - Homo sapiens (human) |
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
| wikipathways | WP2858 | Ectoderm Differentiation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD1008 | SR-II-138A | 3 |
| iGMDRD174 | Octreotide | 2 |
| iGMDRD361 | 5Z-7-Oxozeaenol | 1 |
| iGMDRD97 | Bexarotene | 1 |
| iGMDRD136 | Nutlin-3 | 1 |
| iGMDRD129 | SB-216763 | 1 |
| iGMDRD328 | AR-42 | 4 |
| iGMDRD446 | LY 2183240 | 5 |
| iGMDRD359 | OSW-1 | 2 |
| iGMDRD378 | ZM-447439 | 1 |
| iGMDRD280 | CYTOCHALASIN B | 1 |
| iGMDRD401 | Afatinib | 3 |
| iGMDRD134 | Sorafenib | 1 |
| iGMDRD109 | Gefitinib | 1 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD491 | TAE-684 | 1 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD669 | PDK1 inhibitor | 2 |
| iGMDRD309 | 17AAG | 1 |
| iGMDRD885 | Compound 110 | 6 |
| iGMDRD478 | ABT-888 | 1 |
| iGMDRD332 | A-770041 | 1 |
| iGMDRD131 | Erlotinib | 5 |
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD291 | AC1NS4S0 | 1 |
| iGMDRD792 | Cetuximab | 2 |
| iGMDRD966 | PAK inhibitor | 9 |
| iGMDRD456 | Crizotinib | 1 |
| iGMDRD614 | Dabrafenib | 2 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD310 | Everolimus | 8 |
| iGMDRD267 | Oligomycin A | 3 |
| iGMDRD481 | Dactolisib | 3 |
| iGMDRD333 | MEK Inhibitor | 2 |
| iGMDRD68 | Paclitaxel | 1 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD837 | Bevacizumab | 7 |
| iGMDRD300 | Tozasertib | 1 |
| iGMDRD886 | Compound 1541A | 1 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD889 | Compound 7d-cis | 1 |
| iGMDRD409 | Saracatinib | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD75 | Lovastatin | 1 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD484 | Pluripotin | 3 |
| iGMDRD476 | WH-4-023 | 1 |
| iGMDRD546 | BMS-754807 | 3 |
| iGMDRD748 | PHA-665752 | 1 |
| iGMDRD98 | Cisplatin-4-methylpyridine | 1 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD920 | HSP90 inhibitor | 2 |
| iGMDRD593 | CX-5461 | 2 |
| iGMDRD284 | Palbociclib | 1 |
| iGMDRD399 | Selumetinib | 6 |
| iGMDRD133 | Lapatinib | 11 |
| iGMDRD524 | ISX-9 | 6 |
| iGMDRD41 | Imatinib | 4 |
| iGMDRD23 | Gossypol | 2 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD324 | CI-1040 | 1 |
| iGMDRD719 | IOX2 | 2 |
| iGMDRD910 | FAK inhibitor | 11 |
| iGMDRD79 | Gemcitabine | 1 |
| iGMDRD523 | Cyanoquinoline, 11 | 3 |
| iGMDRD237 | ABT-751 | 1 |
| iGMDRD352 | PD-0325901 | 1 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD39 | Pyrimethamine | 1 |
| iGMDRD879 | chemotherapy | 2 |
| iGMDRD293 | Bleomycin | 3 |
| iGMDRD949 | mTOR inhibitor | 10 |
| iGMDRD288 | Carboplatin | 1 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD221 | Tamoxifen | 1 |
| iGMDRD286 | Nsc 632839 | 4 |
| iGMDRD119 | Temsirolimus | 4 |
| iGMDRD871 | BRD6368 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NF2
CLASSFICATION
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