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mutLBSgeneDB |
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| Gene summary for EPM2A |
 Gene summary |
| Basic gene Info. | Gene symbol | EPM2A |
| Gene name | epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) | |
| Synonyms | EPM2|MELF | |
| Cytomap | UCSC genome browser: 6q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001018041.1, NM_005670.3, | |
| Description | LAFPTPaseepilepsy, progressive myoclonus type 2, Lafora disease (laforin)glucan phosphataselafora PTPaselaforin | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 607566 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112425 | ||
| HPRD : 06345 | ||
| Vega : OTTHUMG00000015747 | ||
| Protein | UniProt: O95278 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EPM2A | |
| BioGPS: 7957 | ||
| Pathway | NCI Pathway Interaction Database: EPM2A | |
| KEGG: EPM2A | ||
| REACTOME: EPM2A | ||
| Pathway Commons: EPM2A | ||
| Context | iHOP: EPM2A | |
| ligand binding site mutation search in PubMed: EPM2A | ||
| UCL Cancer Institute: EPM2A | ||
| 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:0006470 | protein dephosphorylation | 11001928 | GO:0035335 | peptidyl-tyrosine dephosphorylation | 11001928 |
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| Ligand binding site mutations for EPM2A |
| 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 | R241 | G240C | BRCA | 1 | G271 | G271D | GBM | 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 EPM2A |
| 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 | G271 | G271D | 0.2738747 | R241 | G240C | -0.67153629 |
| (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 EPM2A from PDB |
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| Differential gene expression and gene-gene network for EPM2A |
| 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 EPM2A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0751783 | Lafora Disease | 56 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0751778 | Myoclonic Epilepsies, Progressive | 17 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for EPM2A |
| 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 EPM2A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GLC | ALPHA-D-GLUCOSE | 4rkk | A | R241 G271 |
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| Conservation information for LBS of EPM2A |
| Multiple alignments for O95278 in multiple species |
| LBS | AA sequence | # species | Species | A268 | YVHCNAGVGRS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D107 | NGPHHDRCCTY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D197 | FQTEWDIIQNS | 2 | Mus musculus, Rattus norvegicus | D197 | FQTEWDIVQNS | 1 | Homo sapiens | D235 | WMPTPDMSTEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G103 | HWEGNGPHHDR | 2 | Mus musculus, Rattus norvegicus | G103 | SWEGNGPHHDR | 1 | Homo sapiens | G271 | CNAGVGRSTAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K87 | DTFWYKFLQRE | 2 | Mus musculus, Rattus norvegicus | K87 | DTFWYKFLKRE | 1 | Homo sapiens | M139 | GHTNEMKHTTD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M236 | MPTPDMSTEGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N267 | VYVHCNAGVGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P104 | WEGNGPHHDRC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P234 | IWMPTPDMSTE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R241 | MSTEGRVQMLP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R272 | NAGVGRSTAAV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S237 | PTPDMSTEGRV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S25 | LLLAGSRPELG | 2 | Mus musculus, Rattus norvegicus | S25 | LLVVGSRPELG | 1 | Homo sapiens | T142 | NEMKHTTDFYF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T143 | EMKHTTDFYFN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V270 | HCNAGVGRSTA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W32 | PELGRWEPRGA | 2 | Homo sapiens, Rattus norvegicus | W32 | PELGRWEPHGA | 1 | Mus musculus | W85 | RVDTFWYKFLK | 1 | Homo sapiens | W85 | RVDTFWYKFLQ | 1 | Mus musculus | W85 | RIDTFWYKFLQ | 1 | Rattus norvegicus | W99 | GGELHWEGNGP | 2 | Mus musculus, Rattus norvegicus | W99 | GGELSWEGNGP | 1 | Homo sapiens | Y304 | KRPAVYIDEEA | 2 | Homo sapiens, Rattus norvegicus | Y304 | KRPAVYIDEDA | 1 | Mus musculus |
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