Tbio NF2 Merlin

Protein Summary

Description

Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. 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]

Uniprot Accession IDs

• P35240
• O95683
• Q8WUJ2
• Q969N0
• Q969Q3
• Q96T30
• Q96T31
• Q96T32
• Q96T33
• Q9BTW3
• Q9UNG9
• Q9UNH3
• Q9UNH4

Gene Name

• NF2

Ensembl ID

• ENST00000334961
• ENSP00000335652
• ENSG00000186575
• ENST00000338641
• ENSP00000344666
• ENST00000353887
• ENSP00000340626
• ENST00000361166
• ENSP00000354529
• ENST00000361452
• ENSP00000354897
• ENST00000361676
• ENSP00000355183
• ENST00000397789
• ENSP00000380891
• ENST00000403435
• ENSP00000384029
• ENST00000403999
• ENSP00000384797
• ENST00000413209
• ENSP00000409921
• ENST00000432151
• ENSP00000395885

Symbol

• SCH
• ACN
• SCH
• BANF

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
kinase perturbation	0.95
biological process	0.94
biological term	0.91
cellular component	0.88

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2003.94   (req: < 5)

Gene RIFs: 194   (req: <= 3)

Antibodies: 600   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2003.94   (req: >= 5)

Gene RIFs: 194   (req: > 3)

Antibodies: 600   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 27

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (145)

Explore Interacting Targets

1 – 10 of 145

• See Interactions on String-DB

PPFIA1

Tbio

Novelty:  0.01904029

p_int:  0.999999974

p_ni:  2.6e-8

Score:  0.206

Data Source:  BioPlex,STRINGDB

TSPYL4

Tdark

Novelty:  0.4538252

p_int:  0.999576803

p_ni:  0.000422264

p_wrong:  9.32e-7

Score:  0.228

Data Source:  BioPlex,STRINGDB

RNF166

Tdark

Novelty:  0.71460884

p_int:  0.999555445

p_ni:  0.000444555

Score:  0.343

Data Source:  BioPlex,STRINGDB

AMOTL1

Tbio

Novelty:  0.03842225

p_int:  0.999059884

p_ni:  0.000940116

Score:  0.918

Data Source:  BioPlex,STRINGDB

CCNL2

Tbio

Novelty:  0.03667817

p_int:  0.995547343

p_ni:  0.004397645

p_wrong:  0.000055012

Score:  0.181

Data Source:  BioPlex,STRINGDB

PDCL

Tbio

Novelty:  0.00317454

p_int:  0.980176947

p_ni:  0.019823053

Score:  0.212

Data Source:  BioPlex,STRINGDB

LATS2

Tchem

Family:  Kinase

Novelty:  0.00521035

Score:  0.992

Data Source:  STRINGDB

LATS1

Tchem

Family:  Kinase

Novelty:  0.00369058

Score:  0.971

Data Source:  STRINGDB

PAK1

Tchem

Family:  Kinase

Novelty:  0.00411227

Score:  0.966

Data Source:  Reactome,STRINGDB

WWC1

Tbio

Novelty:  0.00905646

Score:  0.965

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (29)

Reactome (8)

KEGG (3)

PathwayCommons (1)

WikiPathways (17)

Fcgamma receptor (FCGR) dependent phagocytosis (R-HSA-2029480)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Fcgamma receptor (FCGR) dependent phagocytosis	163 targets	R-HSA-2029480
Reactome	Immune System	2246 targets	R-HSA-168256
Reactome	Innate Immune System	1188 targets	R-HSA-168249
Reactome	RHO GTPase Effectors	273 targets	R-HSA-195258
Reactome	RHO GTPases activate PAKs	21 targets	R-HSA-5627123

Name	Explore in Pharos	Explore in Source
Fcgamma receptor (FCGR) dependent phagocytosis	163 targets	R-HSA-2029480
Immune System	2246 targets	R-HSA-168256
Innate Immune System	1188 targets	R-HSA-168249
RHO GTPase Effectors	273 targets	R-HSA-195258
RHO GTPases activate PAKs	21 targets	R-HSA-5627123

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (45)

Functions (1)

Components (18)

Processes (26)

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GO Term	Evidence	Assigned by
actin binding	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations ()

No disease associations found

GWAS Traits (12)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
serum non-albumin protein measurement	EFO_0004568	1	2	2		71.7
glomerular filtration rate	EFO_0005208	1	1	1		63.4
self reported educational attainment	EFO_0004784	1	1	1		55.2
lymphocyte count	EFO_0004587	1	1	1		50.6
high density lipoprotein cholesterol measurement	EFO_0004612	1	1	1		46.9

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
serum non-albumin protein measurement	EFO_0004568	2		71.7
glomerular filtration rate	EFO_0005208	1		63.4
self reported educational attainment	EFO_0004784	1		55.2
lymphocyte count	EFO_0004587	1		50.6
high density lipoprotein cholesterol measurement	EFO_0004612	1		46.9

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Cell membrane
Cell projection
Complete proteome
Cytoplasm
Cytoskeleton
Deafness
Disease mutation
Membrane

GWAS Trait Find Similar Targets

No Header	No Header
age at first birth measurement
apolipoprotein A 1 measurement
glomerular filtration rate
high density lipoprotein cholesterol measurement
hip circumference
lifestyle measurement
lymphocyte count
mathematical ability
pulse pressure measurement
reticulocyte measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
craniofacial phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
immune system phenotype
integument phenotype
liver/biliary system phenotype
mortality/aging

IDG Resources

No IDG generated resources found

Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	neurofibromin 2	VGNC:12905	458744
Macaque	neurofibromin 2		714945
Mouse	neurofibromin 2	MGI:97307	18016
Rat	neurofibromin 2	RGD:3169	25744
Dog	neurofibromin 2	VGNC:43762	477535

Species	Name	OMA	EggNOG	Inparanoid
Chimp	neurofibromin 2
Macaque	neurofibromin 2
Mouse	neurofibromin 2
Rat	neurofibromin 2
Dog	neurofibromin 2

Publication Statistics

PubMed Score 2003.94

PubMed score by year

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PubTator Score 1656.67

PubTator score by year

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Related Publications

Text Mined References (263)

GeneRif Annotations (194)

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PMID	Year	Title