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mutLBSgeneDB |
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| Gene summary for EPHA2 |
 Gene summary |
| Basic gene Info. | Gene symbol | EPHA2 |
| Gene name | EPH receptor A2 | |
| Synonyms | ARCC2|CTPA|CTPP1|CTRCT6|ECK | |
| Cytomap | UCSC genome browser: 1p36 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004431.3, | |
| Description | ephrin type-A receptor 2epithelial cell receptor protein tyrosine kinasesoluble EPHA2 variant 1tyrosine-protein kinase receptor ECK | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 176946 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000142627 | ||
| HPRD : 01494 | ||
| Vega : OTTHUMG00000009527 | ||
| Protein | UniProt: P29317 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EPHA2 | |
| BioGPS: 1969 | ||
| Pathway | NCI Pathway Interaction Database: EPHA2 | |
| KEGG: EPHA2 | ||
| REACTOME: EPHA2 | ||
| Pathway Commons: EPHA2 | ||
| Context | iHOP: EPHA2 | |
| ligand binding site mutation search in PubMed: EPHA2 | ||
| UCL Cancer Institute: EPHA2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 18339848 | GO:0018108 | peptidyl-tyrosine phosphorylation | 10655584 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 | GO:0043491 | protein kinase B signaling | 19573808 | GO:0048013 | ephrin receptor signaling pathway | 10655584 | GO:0051898 | negative regulation of protein kinase B signaling | 19573808 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K646 | K646N | BLCA | 1 | K646 | T647M | COAD | 1 | N744 | R743H | STAD | 1 | A644 | A644D | STAD | 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 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 |
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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 | N744 | R743H | -0.92347768 | A644 | A644D | -0.83275668 | K646 | T647M | -0.46691501 | K646 | K646N | -0.28074071 |
| (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 |
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| 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) |
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| Phenotype information for EPHA2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027651 | Neoplasms | 8 | AlteredExpression, Biomarker |
| umls:C1861825 | Cataract, posterior polar, 1 | 2 | Biomarker, GeneticVariation |
| umls:C0175704 | LEOPARD Syndrome | 2 | Biomarker |
| umls:C0028326 | Noonan Syndrome | 2 | Biomarker |
| umls:C0242656 | Disease Progression | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational | DB01254 | Dasatinib | Small molecule |  |
| Experimental | DB04395 | Phosphoaminophosphonic Acid-Adenylate Ester | Small molecule |  |
| Approved | DB08896 | Regorafenib | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of EPHA2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ANP | AMP-PNP | 1mqb | A | A644 K646 | ANP | AMP-PNP | 1mqb | B | A644 K646 N744 |
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| Conservation information for LBS of EPHA2 |
| Multiple alignments for P29317 in multiple species |
| LBS | AA sequence | # species | Species |
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