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mutLBSgeneDB |
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| Gene summary for MTMR2 |
 Gene summary |
| Basic gene Info. | Gene symbol | MTMR2 |
| Gene name | myotubularin related protein 2 | |
| Synonyms | CMT4B|CMT4B1 | |
| Cytomap | UCSC genome browser: 11q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001243571.1, NM_016156.5,NM_201278.2,NM_201281.2, | |
| Description | myotubularin-related protein 2phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphate phosphatase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 603557 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000087053 | ||
| HPRD : 04650 | ||
| Vega : OTTHUMG00000153837 | ||
| Protein | UniProt: Q13614 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MTMR2 | |
| BioGPS: 8898 | ||
| Pathway | NCI Pathway Interaction Database: MTMR2 | |
| KEGG: MTMR2 | ||
| REACTOME: MTMR2 | ||
| Pathway Commons: MTMR2 | ||
| Context | iHOP: MTMR2 | |
| ligand binding site mutation search in PubMed: MTMR2 | ||
| UCL Cancer Institute: MTMR2 | ||
| 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:0046856 | phosphatidylinositol dephosphorylation | 12668758 |
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| Ligand binding site mutations for MTMR2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R459 | R459Q | COAD | 1 | G334 | G334R | KIRC | 1 | R423 | R423H | UCEC | 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. |
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| Protein structure related information for MTMR2 |
| 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 | R423 | R423H | -0.96757194 | R459 | R459Q | -0.36986877 | G334 | G334R | -0.12902648 |
| (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 MTMR2 from PDB |
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| Differential gene expression and gene-gene network for MTMR2 |
| 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 MTMR2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | 7 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MTMR2 |
| 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 MTMR2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 3PI | (1S)-2-(1-HYDROXYBUTOXY)-1-{[(HYDROXY{[(2R,3S,5R,6S)-2,4,6-TRIHYDROXY-3,5-BIS(PHOSPHONOOXY)CYCLOHEXYL]OXY}PHOSPHORYL)OXY]METHYL}ETHYL BUTYRATE | 1zvr | A | G334 R423 R459 | PO4 | PHOSPHATE ION | 1lw3 | A | R423 | PIB | D-MYO-PHOSPHATIDYLINOSITOL 3-PHOSPHATED (+)-SN-1,2-DI-O-BUTANOYLGLYCERYL,3-O-PHOSPHO | 1zsq | A | R423 | PO4 | PHOSPHATE ION | 1m7r | A | R459 |
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| Conservation information for LBS of MTMR2 |
| Multiple alignments for Q13614 in multiple species |
| LBS | AA sequence | # species | Species | D419 | VVHCSDGWDRT | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | D419 | LVHCSDGWDRT | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D422 | CSDGWDRTAQL | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | D422 | CSDGWDRTTQL | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D475 | NHADADRSPVF | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | D475 | NHTDVDRSPIF | 1 | Danio rerio | D475 | SHGHNNYSPIF | 1 | Arabidopsis thaliana | D475 | SYGLNNYSPIF | 1 | Arabidopsis thaliana | G334 | ANKAKGGGYES | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | G334 | ANKMKGGGFES | 1 | Danio rerio | G334 | ANGAMGGGSES | 1 | Arabidopsis thaliana | G334 | ANGAKGGGSES | 1 | Arabidopsis thaliana | G335 | NKAKGGGYESE | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | G335 | NKMKGGGFESE | 1 | Danio rerio | G335 | NGAMGGGSESS | 1 | Arabidopsis thaliana | G335 | NGAKGGGSESS | 1 | Arabidopsis thaliana | G420 | VHCSDGWDRTA | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | G420 | VHCSDGWDRTT | 2 | Arabidopsis thaliana, Arabidopsis thaliana | I356 | LDIHNIHVMRE | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | I356 | FGIDNIHAMRE | 1 | Arabidopsis thaliana | I356 | LGIDNIHAMRE | 1 | Arabidopsis thaliana | K333 | VANKAKGGGYE | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | K333 | AANKMKGGGFE | 1 | Danio rerio | K333 | LANGAMGGGSE | 1 | Arabidopsis thaliana | K333 | LANGAKGGGSE | 1 | Arabidopsis thaliana | L462 | GHRFQLRVG-- | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | L462 | GHPFSDRVGMP | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L462 | GHRFQQRVG-- | 1 | Danio rerio | N326 | ARPSVNAVANK | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | N326 | ARPRKNALANG | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N326 | ARPSVNAAANK | 1 | Danio rerio | N330 | VNAVANKAKGG | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | N330 | VNAAANKMKGG | 1 | Danio rerio | N330 | KNALANGAMGG | 1 | Arabidopsis thaliana | N330 | KNALANGAKGG | 1 | Arabidopsis thaliana | N355 | FLDIHNIHVMR | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | N355 | FFGIDNIHAMR | 1 | Arabidopsis thaliana | N355 | FLGIDNIHAMR | 1 | Arabidopsis thaliana | Q286 | ITRCSQPMVGV | 3 | Homo sapiens, Gallus gallus, Bos taurus | Q286 | IARSSQPLVGL | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q286 | VVRSSQPMVGQ | 1 | Danio rerio | Q286 | VTRCSQPMVGV | 1 | Mus musculus | R322 | FIFDARPSVNA | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | R322 | YIADARPRKNA | 1 | Arabidopsis thaliana | R322 | YIVDARPRKNA | 1 | Arabidopsis thaliana | R423 | SDGWDRTAQLT | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | R423 | SDGWDRTTQLV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R459 | LSFGHRFQLRV | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | R459 | LSFGHRFQQRV | 1 | Danio rerio | R459 | LAFGHPFSDRV | 1 | Arabidopsis thaliana | R459 | LSFGHPFSDRV | 1 | Arabidopsis thaliana | R463 | HRFQLRVG--- | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | R463 | HPFSDRVGMPN | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R463 | HRFQQRVG--- | 1 | Danio rerio | S418 | VVVHCSDGWDR | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | S418 | VLVHCSDGWDR | 2 | Arabidopsis thaliana, Arabidopsis thaliana | W421 | HCSDGWDRTAQ | 5 | Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus | W421 | HCSDGWDRTTQ | 2 | Arabidopsis thaliana, Arabidopsis thaliana |
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