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 |
---|---|---|---|---|---|
Nameneurofibromin 2 OMIM IDMIM:607379 Ensembl IDEnsembl:ENSG00000186575 HGNC IDHGNC:HGNC:7773 PHARMGKB IDPA31580 Map Location22q12.2 |
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in NF2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |