Gene Symbol | NF2 |
Entrez ID | 4771 |
Uniprot ID | P35240 |
Description | neurofibromin 2 (merlin) |
Chromosomal Location | chr22: 29,603,556-29,698,598 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001707 |
mesoderm formation |
The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. |
IEA |
BP |
GO:0001953 |
negative regulation of cell-matrix adhesion |
Any process that stops, prevents, or reduces the rate or extent of cell adhesion to the extracellular matrix. |
TAS |
BP |
GO:0006469 |
negative regulation of protein kinase activity |
Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
IEA |
BP |
GO:0007398 |
ectoderm development |
The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. |
IEA |
BP |
GO:0008156 |
negative regulation of DNA replication |
Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication. |
IMP |
BP |
GO:0008285 |
negative regulation of cell proliferation |
Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
IDA|IMP |
BP |
GO:0014010 |
Schwann cell proliferation |
The multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. |
IMP |
BP |
GO:0014013 |
regulation of gliogenesis |
Any process that modulates the frequency, rate or extent of gliogenesis, the formation of mature glia. |
IEA |
BP |
GO:0021766 |
hippocampus development |
The progression of the hippocampus over time from its initial formation until its mature state. |
IEA |
BP |
GO:0022408 |
negative regulation of cell-cell adhesion |
Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. |
IDA |
BP |
GO:0030036 |
actin cytoskeleton organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
IMP |
BP |
GO:0030336 |
negative regulation of cell migration |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
TAS |
BP |
GO:0031647 |
regulation of protein stability |
Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
IEA |
BP |
GO:0035330 |
regulation of hippo signaling |
Any process that modulates the frequency, rate or extent of hippo signaling. |
IMP |
BP |
GO:0042475 |
odontogenesis of dentin-containing tooth |
The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. |
IEA |
BP |
GO:0042518 |
negative regulation of tyrosine phosphorylation of Stat3 protein |
Any process that stops, prevents, or reduces the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a Stat3 protein. |
IDA |
BP |
GO:0042524 |
negative regulation of tyrosine phosphorylation of Stat5 protein |
Any process that stops, prevents, or reduces the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a Stat5 protein. |
IDA |
BP |
GO:0043409 |
negative regulation of MAPK cascade |
Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade. |
IEA |
BP |
GO:0045216 |
cell-cell junction organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells. |
IEA |
BP |
GO:0045597 |
positive regulation of cell differentiation |
Any process that activates or increases the frequency, rate or extent of cell differentiation. |
IEA |
BP |
GO:0046426 |
negative regulation of JAK-STAT cascade |
Any process that stops, prevents, or reduces the frequency, rate or extent of the JAK-STAT signaling pathway activity. |
IDA |
BP |
GO:0051496 |
positive regulation of stress fiber assembly |
Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
IMP |
BP |
GO:0070306 |
lens fiber cell differentiation |
The process in which a relatively unspecialized cell acquires specialized features of a lens fiber cell, any of the elongated, tightly packed cells that make up the bulk of the mature lens in the camera-type eye. The cytoplasm of a lens fiber cell is devoid of most intracellular organelles including the cell nucleus, and contains primarily crystallins, a group of water-soluble proteins expressed in vary large quantities. |
IEA |
BP |
GO:0072091 |
regulation of stem cell proliferation |
Any process that modulates the frequency, rate or extent of stem cell proliferation. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
IEA |
BP |
GO:1900180 |
regulation of protein localization to nucleus |
Any process that modulates the frequency, rate or extent of protein localization to nucleus. |
IEA |
BP |
GO:2000177 |
regulation of neural precursor cell proliferation |
Any process that modulates the frequency, rate or extent of neural precursor cell proliferation. |
IEA |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005730 |
nucleolus |
A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005769 |
early endosome |
A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
IDA |
CC |
GO:0005856 |
cytoskeleton |
Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
TAS |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
IDA|TAS |
CC |
GO:0005912 |
adherens junction |
A cell junction at which anchoring proteins (cadherins or integrins) extend through the plasma membrane and are attached to actin filaments. |
IEA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0019898 |
extrinsic component of membrane |
The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
IEA |
CC |
GO:0030027 |
lamellipodium |
A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
IEA |
CC |
GO:0030864 |
cortical actin cytoskeleton |
The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
IEA |
CC |
GO:0031527 |
filopodium membrane |
The portion of the plasma membrane surrounding a filopodium. |
IEA |
CC |
GO:0032154 |
cleavage furrow |
The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
IEA |
CC |
GO:0032587 |
ruffle membrane |
The portion of the plasma membrane surrounding a ruffle. |
IEA |
CC |
GO:0043005 |
neuron projection |
A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
IEA |
CC |
GO:0044297 |
cell body |
The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
IEA |
CC |
GO:0045177 |
apical part of cell |
The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
IEA |
CC |
GO:0048471 |
perinuclear region of cytoplasm |
Cytoplasm situated near, or occurring around, the nucleus. |
IDA |
MF |
GO:0003779 |
actin binding |
Interacting selectively and non-covalently with monomeric or multimeric forms of actin, including actin filaments. |
IEA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
Domain ID | Description |
---|---|
IPR000299 |
FERM domain |
IPR000798 |
Ezrin/radixin/moesin-like |
IPR008954 |
Moesin tail domain |
IPR011174 |
Ezrin/radixin/moesin |
IPR011259 |
Ezrin/radixin/moesin, C-terminal |
IPR011993 |
PH domain-like |
IPR014352 |
FERM/acyl-CoA-binding protein, 3-helical bundle |
IPR018979 |
FERM, N-terminal |
IPR018980 |
FERM, C-terminal PH-like domain |
IPR019747 |
FERM conserved site |
IPR019748 |
FERM central domain |
IPR019749 |
Band 4.1 domain |
IPR029071 |
Ubiquitin-related domain |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04390 |
Hippo signaling pathway |
KEGG |
hsa04392 |
Hippo signaling pathway -multiple species |
KEGG |
hsa04530 |
Tight junction |
KEGG |
WP2858 |
Ectoderm Differentiation |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0007134 |
Renal Cell Carcinoma |
C0025286 |
Meningioma |
C0025500 |
Mesothelioma |
C0027832 |
Neurofibromatosis 2 |
C0027859 |
Acoustic Neuroma |
C0917817 |
Neurofibromatosis 3 |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
breast |
glandular cells |
bronchus |
respiratory epithelial cells |
caudate |
neuronal cells |
cerebellum |
cells in molecular layer |
cerebral cortex |
glial cells |
cerebral cortex |
neuronal cells |
cervix, uterine |
squamous epithelial cells |
colon |
glandular cells |
duodenum |
glandular cells |
endometrium |
cells in endometrial stroma |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
gallbladder |
glandular cells |
heart muscle |
myocytes |
hippocampus |
neuronal cells |
kidney |
cells in tubules |
liver |
hepatocytes |
lung |
macrophages |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
pancreas |
exocrine glandular cells |
pancreas |
islets of Langerhans |
placenta |
trophoblastic cells |
rectum |
glandular cells |
seminal vesicle |
glandular cells |
skin |
keratinocytes |
skin |
Langerhans |
skin |
melanocytes |
small intestine |
glandular cells |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
thyroid gland |
glandular cells |
tonsil |
squamous epithelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
PPP1R8 |
5511 |
Q12972 |
0.49 |
TSC1 |
7248 |
Q92574 |
0.52 |
ERBB2 |
2064 |
P04626 |
0.55 |
ITGB1 |
3688 |
P05556 |
0.55 |
XPO1 |
7514 |
O14980 |
0.55 |
CTNNB1 |
1499 |
P35222 |
0.59 |
MYBPC2 |
4606 |
Q14324 |
0.63 |
INADL |
10207 |
Q8NI35 |
0.63 |
MPP5 |
64398 |
Q8N3R9 |
0.63 |
TARBP2 |
6895 |
Q15633 |
0.65 |
DNAJA1 |
3301 |
P31689 |
0.72 |
HSPA4 |
3308 |
P34932 |
0.72 |
SOS1 |
6654 |
Q07889 |
0.72 |
DYNLL1 |
8655 |
P63167 |
0.72 |
DNAJA2 |
10294 |
O60884 |
0.72 |
HSPH1 |
10808 |
Q92598 |
0.72 |
KDM1A |
23028 |
O60341 |
0.72 |
TUBA1C |
84790 |
Q9BQE3 |
0.72 |
RALGDS |
5900 |
Q12967 |
0.74 |
PXN |
5829 |
P49023 |
0.75 |
AGAP2 |
116986 |
Q99490 |
0.75 |
GTPBP4 |
23560 |
Q9BZE4 |
0.77 |
SDCBP |
6386 |
O00560 |
0.78 |
SPTBN1 |
6711 |
Q01082 |
0.79 |
AMOTL2 |
51421 |
Q9Y2J4 |
0.82 |
AMOTL1 |
154810 |
Q8IY63 |
0.82 |
CD44 |
960 |
P16070 |
0.85 |
LATS2 |
26524 |
Q9NRM7 |
0.86 |
MED28 |
80306 |
Q9H204 |
0.86 |
DDB1 |
100290337 |
Q16531 |
0.86 |
LATS1 |
9113 |
O95835 |
0.89 |
SLC9A3R1 |
9368 |
O14745 |
0.89 |
HGS |
9146 |
O14964 |
0.90 |
VPRBP |
9730 |
Q9Y4B6 |
0.90 |
EZR |
7430 |
P15311 |
0.96 |
NF2 |
4771 |
P35240 |
0.97 |
PYGO2 |
90780 |
Q9BRQ0 |
0.56 |
GPS1 |
2873 |
Q13098 |
0.63 |
MOV10 |
4343 |
Q9HCE1 |
0.63 |
ARHGAP32 |
9743 |
A7KAX9 |
0.63 |
NXF1 |
10482 |
Q9UBU9 |
0.63 |
UBD |
10537 |
O15205 |
0.63 |
WWC1 |
23286 |
Q8IX03 |
0.63 |
ARHGAP17 |
55114 |
Q68EM7 |
0.63 |
CCNL2 |
81669 |
Q96S94 |
0.63 |
RNF166 |
115992 |
Q96A37 |
0.63 |
DBN1 |
1627 |
Q16643 |
0.72 |
RIT1 |
6016 |
Q92963 |
0.72 |
SLC33A1 |
9197 |
O00400 |
0.72 |
CCNB1IP1 |
57820 |
Q9NPC3 |
0.72 |
MAP3K11 |
4296 |
Q16584 |
0.76 |
AKT1 |
207 |
P31749 |
0.78 |
SGSM3 |
27352 |
Q96HU1 |
0.79 |
SCHIP1 |
29970 |
Q9P0W5 |
0.79 |
CUL4A |
8451 |
Q13619 |
0.82 |
YAP1 |
10413 |
P46937 |
0.82 |
PAK1 |
5058 |
Q13153 |
0.85 |
AMOT |
154796 |
Q4VCS5 |
0.90 |