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 MTMR2
Gene summary
Basic gene Info.Gene symbolMTMR2
Gene namemyotubularin related protein 2
CytomapUCSC genome browser: 11q22
Type of geneprotein-coding
Descriptionmyotubularin-related protein 2phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphate phosphatase
Modification date20141219
dbXrefs MIM : 603557
Ensembl : ENSG00000087053
HPRD : 04650
Vega : OTTHUMG00000153837
ProteinUniProt: Q13614
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MTMR2
BioGPS: 8898
PathwayNCI Pathway Interaction Database: MTMR2
Pathway Commons: MTMR2
ContextiHOP: MTMR2
ligand binding site mutation search in PubMed: MTMR2
UCL Cancer Institute: MTMR2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0046856phosphatidylinositol dephosphorylation12668758

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.

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.

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

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 MTMR2 from PDB

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)
* Left PPI network was created from samples with mutations in the LBS of MTMR2 and the right PPI network was created from samples without mutations in the LBS of MTMR2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for MTMR2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1832399Charcot-Marie-Tooth disease, Type 4B17Biomarker, GeneticVariation

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

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.
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 MTMR2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of MTMR2
Multiple alignments for Q13614 in multiple species
LBSAA sequence# speciesSpecies
D419VVHCSDGWDRT5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
D419LVHCSDGWDRT2Arabidopsis thaliana, Arabidopsis thaliana
D422CSDGWDRTAQL5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
D422CSDGWDRTTQL2Arabidopsis thaliana, Arabidopsis thaliana
D475NHADADRSPVF4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
D475NHTDVDRSPIF1Danio rerio
D475SHGHNNYSPIF1Arabidopsis thaliana
D475SYGLNNYSPIF1Arabidopsis thaliana
G334ANKAKGGGYES4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
G334ANKMKGGGFES1Danio rerio
G334ANGAMGGGSES1Arabidopsis thaliana
G334ANGAKGGGSES1Arabidopsis thaliana
G335NKAKGGGYESE4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
G335NKMKGGGFESE1Danio rerio
G335NGAMGGGSESS1Arabidopsis thaliana
G335NGAKGGGSESS1Arabidopsis thaliana
G420VHCSDGWDRTA5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
G420VHCSDGWDRTT2Arabidopsis thaliana, Arabidopsis thaliana
I356LDIHNIHVMRE5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
I356FGIDNIHAMRE1Arabidopsis thaliana
I356LGIDNIHAMRE1Arabidopsis thaliana
K333VANKAKGGGYE4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
K333AANKMKGGGFE1Danio rerio
K333LANGAMGGGSE1Arabidopsis thaliana
K333LANGAKGGGSE1Arabidopsis thaliana
L462GHRFQLRVG--4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
L462GHPFSDRVGMP2Arabidopsis thaliana, Arabidopsis thaliana
L462GHRFQQRVG--1Danio rerio
N326ARPSVNAVANK4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
N326ARPRKNALANG2Arabidopsis thaliana, Arabidopsis thaliana
N326ARPSVNAAANK1Danio rerio
N330VNAVANKAKGG4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
N330VNAAANKMKGG1Danio rerio
N330KNALANGAMGG1Arabidopsis thaliana
N330KNALANGAKGG1Arabidopsis thaliana
N355FLDIHNIHVMR5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
N355FFGIDNIHAMR1Arabidopsis thaliana
N355FLGIDNIHAMR1Arabidopsis thaliana
Q286ITRCSQPMVGV3Homo sapiens, Gallus gallus, Bos taurus
Q286IARSSQPLVGL2Arabidopsis thaliana, Arabidopsis thaliana
Q286VVRSSQPMVGQ1Danio rerio
Q286VTRCSQPMVGV1Mus musculus
R322FIFDARPSVNA5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
R322YIADARPRKNA1Arabidopsis thaliana
R322YIVDARPRKNA1Arabidopsis thaliana
R423SDGWDRTAQLT5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
R423SDGWDRTTQLV2Arabidopsis thaliana, Arabidopsis thaliana
R459LSFGHRFQLRV4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
R459LSFGHRFQQRV1Danio rerio
R459LAFGHPFSDRV1Arabidopsis thaliana
R459LSFGHPFSDRV1Arabidopsis thaliana
R463HRFQLRVG---4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
R463HPFSDRVGMPN2Arabidopsis thaliana, Arabidopsis thaliana
R463HRFQQRVG---1Danio rerio
S418VVVHCSDGWDR5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
S418VLVHCSDGWDR2Arabidopsis thaliana, Arabidopsis thaliana
W421HCSDGWDRTAQ5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Mus musculus
W421HCSDGWDRTTQ2Arabidopsis thaliana, Arabidopsis thaliana

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