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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]
NF2 (Neurofibromin 2) is a Protein Coding gene. Diseases associated with NF2 include Neurofibromatosis, Type Ii and Schwannomatosis 1. Among its related pathways are Signaling by GPCR and Hippo signaling pathway. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is EZR.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 9430655 |
GO:0008092 | cytoskeletal protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 10401006 |
GO:0005730 | nucleolus | IDA | 9537418 |
GO:0005737 | cytoplasm | IDA | 9537418 |
GO:0005769 | early endosome | IDA | 10861283 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Rho GTPases | ||
2 | Cytoskeletal Signaling | ||
3 | Neuroscience | ||
4 | Hippo signaling pathway | ||
5 | Hippo signaling pathway - multiple species |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001707 | mesoderm formation | IEA | -- |
GO:0001953 | negative regulation of cell-matrix adhesion | TAS | 17210637 |
GO:0006469 | negative regulation of protein kinase activity | IEA | -- |
GO:0007398 | ectoderm development | IEA | -- |
GO:0007420 | brain development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Histone Deacetylase Inhibitors | Pharma | 669 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - |
ExUns: | 19c |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: | |
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NF2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NF2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NF2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NF2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nf2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nf2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NF2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NF2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NF2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nf2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nf2a 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010346 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Mer 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | nfm-1 32 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9769 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835220 | Uncertain Significance: Neurofibromatosis, type 2 | 29,694,777(+) |
G/A NM_000268.4(NF2):c.1763G>A (p.Arg588Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
835521 | Uncertain Significance: Neurofibromatosis, type 2 | 29,639,181(+) |
A/C NM_000268.4(NF2):c.332A>C (p.Gln111Pro) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
836842 | Uncertain Significance: Neurofibromatosis, type 2 | 29,671,864(+) |
G/T NM_000268.4(NF2):c.1038G>T (p.Arg346Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
837125 | Uncertain Significance: Neurofibromatosis, type 2 | 29,671,938(+) |
A/G NM_000268.4(NF2):c.1112A>G (p.Asn371Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
838853 | Uncertain Significance: Neurofibromatosis, type 2 | 29,604,056(+) |
A/C NM_000268.4(NF2):c.58A>C (p.Lys20Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurofibromatosis, type ii |
|
|
schwannomatosis 1 |
|
|
meningioma, familial |
|
|
spindle cell sarcoma |
|
|
neurilemmomatosis |
|