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 EPHA2
Gene summary
Basic gene Info.Gene symbolEPHA2
Gene nameEPH receptor A2
CytomapUCSC genome browser: 1p36
Type of geneprotein-coding
Descriptionephrin type-A receptor 2epithelial cell receptor protein tyrosine kinasesoluble EPHA2 variant 1tyrosine-protein kinase receptor ECK
Modification date20141222
dbXrefs MIM : 176946
Ensembl : ENSG00000142627
HPRD : 01494
Vega : OTTHUMG00000009527
ProteinUniProt: P29317
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EPHA2
BioGPS: 1969
PathwayNCI Pathway Interaction Database: EPHA2
Pathway Commons: EPHA2
ContextiHOP: EPHA2
ligand binding site mutation search in PubMed: EPHA2
UCL Cancer Institute: EPHA2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage18339848
GO:0018108peptidyl-tyrosine phosphorylation10655584
GO:0033628regulation of cell adhesion mediated by integrin10655584
GO:0043491protein kinase B signaling19573808
GO:0048013ephrin receptor signaling pathway10655584
GO:0051898negative regulation of protein kinase B signaling19573808

Ligand binding site mutations for EPHA2
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 EPHA2
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 EPHA2 from PDB

Differential gene expression and gene-gene network for EPHA2
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 EPHA2 and the right PPI network was created from samples without mutations in the LBS of EPHA2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for EPHA2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027651Neoplasms8AlteredExpression, Biomarker
umls:C1861825Cataract, posterior polar, 12Biomarker, GeneticVariation
umls:C0175704LEOPARD Syndrome2Biomarker
umls:C0028326Noonan Syndrome2Biomarker
umls:C0242656Disease Progression1Biomarker

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

Pharmacological information for EPHA2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB01254DasatinibSmall molecule
ExperimentalDB04395Phosphoaminophosphonic Acid-Adenylate EsterSmall molecule
ApprovedDB08896RegorafenibSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of EPHA2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ANPAMP-PNP1mqbAA644 K646
ANPAMP-PNP1mqbBA644 K646 N744

Conservation information for LBS of EPHA2
Multiple alignments for P29317 in multiple species
LBSAA sequence# speciesSpecies

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