mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NF2
Gene summary
Basic gene Info.Gene symbolNF2
Gene nameneurofibromin 2 (merlin)
CytomapUCSC genome browser: 22q12.2
Type of geneprotein-coding
Descriptionmerlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)neurofibromin-2schwannomerlinschwannomin
Modification date20141222
dbXrefs MIM : 607379
Ensembl : ENSG00000186575
HPRD : 06980
Vega : OTTHUMG00000030727
ProteinUniProt: P35240
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NF2
BioGPS: 4771
PathwayNCI Pathway Interaction Database: NF2
Pathway Commons: NF2
ContextiHOP: NF2
ligand binding site mutation search in PubMed: NF2
UCL Cancer Institute: NF2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0008285negative regulation of cell proliferation12444102
GO:0022408negative regulation of cell-cell adhesion17210637
GO:0042518negative regulation of tyrosine phosphorylation of Stat3 protein12444102
GO:0042524negative regulation of tyrosine phosphorylation of Stat5 protein12444102
GO:0046426negative regulation of JAK-STAT cascade12444102

Ligand binding site mutations for NF2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Clinical information for NF2 from My Cancer Genome.
Neurofibromin 2 (NF2) is a gene that encodes a protein that functions in connecting cytoskeletal components with cell-surface proteins, cytoskeletal proteins, and ion transport proteins. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as meningeal cancer, pleural cancer, and soft tissue cancer. Modified: July 1, 2015

Protein structure related information for NF2
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NF2 from PDB
PDB IDPDB titlePDB structure
3U8Zhuman merlin FERM domain

Differential gene expression and gene-gene network for NF2
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NF2 and the right PPI network was created from samples without mutations in the LBS of NF2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NF2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027832Neurofibromatosis 281Biomarker, GeneticVariation
umls:C0025286Meningioma81Biomarker, GeneticVariation, PostTranslationalModification
umls:C1335929Schwannomatosis5Biomarker, GeneticVariation
umls:C0007134Carcinoma, Renal Cell2Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for NF2
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NF2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of NF2
Multiple alignments for P35240 in multiple species
LBSAA sequence# speciesSpecies
A137YCPPEASVLLA3Homo sapiens, Rattus norvegicus, Mus musculus
A137YCRPEASVLLA1Drosophila melanogaster
E136VYCPPEASVLL2Rattus norvegicus, Mus musculus
E136IYCPPEASVLL1Homo sapiens
E136IYCRPEASVLL1Drosophila melanogaster
E206DEAEMEYLKIA3Homo sapiens, Rattus norvegicus, Mus musculus
E206DEVEMEYLKIA1Drosophila melanogaster
I210MEYLKIAQDLE3Homo sapiens, Rattus norvegicus, Mus musculus
I210MEYLKIAQDLD1Drosophila melanogaster
K209EMEYLKIAQDL4Homo sapiens, Drosophila melanogaster, Rattus norvegicus, Mus musculus
L140PEASVLLASYA4Homo sapiens, Drosophila melanogaster, Rattus norvegicus, Mus musculus
L176KRVINLYQMTP3Homo sapiens, Rattus norvegicus, Mus musculus
L176KGVTDQYQMTP1Drosophila melanogaster
M179INLYQMTPEMW3Homo sapiens, Rattus norvegicus, Mus musculus
M179TDQYQMTPEMW1Drosophila melanogaster
M183QMTPEMWEERI4Homo sapiens, Drosophila melanogaster, Rattus norvegicus, Mus musculus
N175PKRVINLYQMT3Homo sapiens, Rattus norvegicus, Mus musculus
N175PKGVTDQYQMT1Drosophila melanogaster
Q178VINLYQMTPEM3Homo sapiens, Rattus norvegicus, Mus musculus
Q178VTDQYQMTPEM1Drosophila melanogaster
R187EMWEERITAWY3Homo sapiens, Rattus norvegicus, Mus musculus
R187EMWEERIKTWY1Drosophila melanogaster
V139PPEASVLLASY3Homo sapiens, Rattus norvegicus, Mus musculus
V139RPEASVLLASY1Drosophila melanogaster
W184MTPEMWEERIT3Homo sapiens, Rattus norvegicus, Mus musculus
W184MTPEMWEERIK1Drosophila melanogaster
W191ERITAWYAEHR3Homo sapiens, Rattus norvegicus, Mus musculus
W191ERIKTWYMDHE1Drosophila melanogaster
Y144VLLASYAVQAK3Homo sapiens, Rattus norvegicus, Mus musculus
Y144VLLASYAVHVQ1Drosophila melanogaster
Y177RVINLYQMTPE3Homo sapiens, Rattus norvegicus, Mus musculus
Y177GVTDQYQMTPE1Drosophila melanogaster

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