XB-FEAT-984958: Difference between revisions
imported>Xenbase gene generator No edit summary |
imported>Xenbase |
||
| Line 1: | Line 1: | ||
=nf2= | =nf2= | ||
This is the community wiki page for the gene ''nf2'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | This is the community wiki page for the gene ''nf2'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | ||
=nomenclature changes= | |||
10.20.2021 | |||
Human name has changed for Entrez Gene: 4771. From neurofibromin 2 to NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | |||
gene symbol NF2/nf2 remains the same, although we expect it will be changed in the future. | |||
=summary for human NF2 from NCBI= | |||
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] | |||
Latest revision as of 11:31, 19 October 2021
nf2
This is the community wiki page for the gene nf2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
nomenclature changes
10.20.2021 Human name has changed for Entrez Gene: 4771. From neurofibromin 2 to NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
gene symbol NF2/nf2 remains the same, although we expect it will be changed in the future.
summary for human NF2 from NCBI
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]