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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:607379
PHARMGKB IDPA31580
Map Location22q12.2

GO terms in NF2


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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
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Gene expression in normal tissue: NF2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined38RTK signaling5ERK MAPK signaling5EGFR signaling4Other, kinases4VEGF signaling pathway2PI3K/MTOR signaling2Mitosis2Breast cancer1Cell cycle1

Pathways in NF2


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD1008 SR-II-138A 3
iGMDRD174 Octreotide 2
iGMDRD361 5Z-7-Oxozeaenol 1
iGMDRD97 Bexarotene 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NF2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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