mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 PLEKHB2
Gene summary
Basic gene Info.Gene symbolPLEKHB2
Gene namepleckstrin homology domain containing, family B (evectins) member 2
SynonymsEVT2
CytomapUCSC genome browser: 2q21.1
Type of geneprotein-coding
RefGenesNM_001031706.1,
NM_001100623.1,NM_001267062.1,NM_001267063.1,NM_001267064.1,
NM_001267065.1,NM_001267066.1,NM_001267067.1,NM_001267068.1,
NM_017958.2,NR_049789.1,NR_049790.1,NR_049791.1,
NR_049792.1,
DescriptionPH domain-containing family B member 2evectin-2pleckstrin homology domain-containing family B member 2
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000115762
HPRD : 15144
Vega : OTTHUMG00000131656
ProteinUniProt: Q96CS7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PLEKHB2
BioGPS: 55041
PathwayNCI Pathway Interaction Database: PLEKHB2
KEGG: PLEKHB2
REACTOME: PLEKHB2
Pathway Commons: PLEKHB2
ContextiHOP: PLEKHB2
ligand binding site mutation search in PubMed: PLEKHB2
UCL Cancer Institute: PLEKHB2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for PLEKHB2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R18,K20W19LLUAD1
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 PLEKHB2
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
K20W19L-1.0556733
R18W19L-1.0556733
(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 PLEKHB2 from PDB

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Differential gene expression and gene-gene network for PLEKHB2
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 PLEKHB2 and the right PPI network was created from samples without mutations in the LBS of PLEKHB2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for PLEKHB2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for PLEKHB2
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 PLEKHB2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
SEPO-PHOSPHO-L-SERINE RESIDUE3aj4AR18 K20


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Conservation information for LBS of PLEKHB2
Multiple alignments for Q96CS7 in multiple species
LBSAA sequence# speciesSpecies
E44TRQNIEDKVHM1Homo sapiens
E44NRHDIEDKIHM1Gallus gallus
E44TRQSIEDKVHM1Mus musculus
I15LRQSTILKRWK2Homo sapiens, Mus musculus
I15LRQSTILRRWK1Gallus gallus
K20ILKRWKKNWFD2Homo sapiens, Mus musculus
K20ILRRWKKNWFD1Gallus gallus
L16RQSTILKRWKK2Homo sapiens, Mus musculus
L16RQSTILRRWKK1Gallus gallus
R11SGWLLRQSTIL3Homo sapiens, Gallus gallus, Mus musculus
R18STILKRWKKNW2Homo sapiens, Mus musculus
R18STILRRWKKNW1Gallus gallus
S13WLLRQSTILKR2Homo sapiens, Mus musculus
S13WLLRQSTILRR1Gallus gallus
T14LLRQSTILKRW2Homo sapiens, Mus musculus
T14LLRQSTILRRW1Gallus gallus


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