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mutLBSgeneDB |
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| Gene summary for NF2 |
 Gene summary |
| Basic gene Info. | Gene symbol | NF2 |
| Gene name | neurofibromin 2 (merlin) | |
| Synonyms | ACN|BANF|SCH | |
| Cytomap | UCSC genome browser: 22q12.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000268.3, NM_016418.5,NM_181825.2,NM_181828.2,NM_181829.2, NM_181830.2,NM_181831.2,NM_181832.2,NM_181833.2, NM_181826.1,NM_181827.1,NM_181834.1,NM_181835.1, | |
| Description | merlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)neurofibromin-2schwannomerlinschwannomin | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 607379 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000186575 | ||
| HPRD : 06980 | ||
| Vega : OTTHUMG00000030727 | ||
| Protein | UniProt: P35240 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NF2 | |
| BioGPS: 4771 | ||
| Pathway | NCI Pathway Interaction Database: NF2 | |
| KEGG: NF2 | ||
| REACTOME: NF2 | ||
| Pathway Commons: NF2 | ||
| Context | iHOP: NF2 | |
| ligand binding site mutation search in PubMed: NF2 | ||
| UCL Cancer Institute: NF2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0008285 | negative regulation of cell proliferation | 12444102 | GO:0022408 | negative regulation of cell-cell adhesion | 17210637 | GO:0042518 | negative regulation of tyrosine phosphorylation of Stat3 protein | 12444102 | GO:0042524 | negative regulation of tyrosine phosphorylation of Stat5 protein | 12444102 | GO:0046426 | negative regulation of JAK-STAT cascade | 12444102 |
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| Ligand binding site mutations for NF2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E206 | Y207C | COAD | 2 | Y144 | V146I | COAD | 1 | Y144 | S143F | HNSC | 1 | Y144 | V146I | THCA | 1 |
| 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 |
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| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | E206 | Y207C | -1.5567779 | Y144 | S143F | -1.1546266 | Y144 | V146I | -0.71093658 |
| (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 ID | PDB title | PDB structure | 3U8Z | human merlin FERM domain |  |
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| 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) |
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| Phenotype information for NF2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027832 | Neurofibromatosis 2 | 81 | Biomarker, GeneticVariation |
| umls:C0025286 | Meningioma | 81 | Biomarker, GeneticVariation, PostTranslationalModification |
| umls:C0025500 | Mesothelioma | 14 | Biomarker |
| umls:C1335929 | Schwannomatosis | 5 | Biomarker, GeneticVariation |
| umls:C0007134 | Carcinoma, Renal Cell | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NF2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLY,PRO,TYR,GLN,LYS,ALA,LEU,ARG,GLU,ILE,ARG,TYR,SER,LEU,LEU,PRO,PHE,ALA,ASN,GLU) | 4zri | A | E206 | III | Peptide ligand (GLY,PRO,TYR,GLN,LYS,ALA,LEU,ARG,GLU,ILE,ARG,TYR,SER,LEU,LEU,PRO,PHE,ALA,ASN) | 4zri | B | Y144 E206 |
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| Conservation information for LBS of NF2 |
| Multiple alignments for P35240 in multiple species |
| LBS | AA sequence | # species | Species | A137 | YCPPEASVLLA | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | A137 | YCRPEASVLLA | 1 | Drosophila melanogaster | E136 | VYCPPEASVLL | 2 | Rattus norvegicus, Mus musculus | E136 | IYCPPEASVLL | 1 | Homo sapiens | E136 | IYCRPEASVLL | 1 | Drosophila melanogaster | E206 | DEAEMEYLKIA | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | E206 | DEVEMEYLKIA | 1 | Drosophila melanogaster | I210 | MEYLKIAQDLE | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | I210 | MEYLKIAQDLD | 1 | Drosophila melanogaster | K209 | EMEYLKIAQDL | 4 | Homo sapiens, Drosophila melanogaster, Rattus norvegicus, Mus musculus | L140 | PEASVLLASYA | 4 | Homo sapiens, Drosophila melanogaster, Rattus norvegicus, Mus musculus | L176 | KRVINLYQMTP | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | L176 | KGVTDQYQMTP | 1 | Drosophila melanogaster | M179 | INLYQMTPEMW | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | M179 | TDQYQMTPEMW | 1 | Drosophila melanogaster | M183 | QMTPEMWEERI | 4 | Homo sapiens, Drosophila melanogaster, Rattus norvegicus, Mus musculus | N175 | PKRVINLYQMT | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | N175 | PKGVTDQYQMT | 1 | Drosophila melanogaster | Q178 | VINLYQMTPEM | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | Q178 | VTDQYQMTPEM | 1 | Drosophila melanogaster | R187 | EMWEERITAWY | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | R187 | EMWEERIKTWY | 1 | Drosophila melanogaster | V139 | PPEASVLLASY | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | V139 | RPEASVLLASY | 1 | Drosophila melanogaster | W184 | MTPEMWEERIT | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | W184 | MTPEMWEERIK | 1 | Drosophila melanogaster | W191 | ERITAWYAEHR | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | W191 | ERIKTWYMDHE | 1 | Drosophila melanogaster | Y144 | VLLASYAVQAK | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | Y144 | VLLASYAVHVQ | 1 | Drosophila melanogaster | Y177 | RVINLYQMTPE | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | Y177 | GVTDQYQMTPE | 1 | Drosophila melanogaster |
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