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EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin))

Identity

Alias_namesepilepsy
Alias_symbol (synonym)LDE
LD
HGNC (Hugo) EPM2A
LocusID (NCBI) 7957
Atlas_Id 43825
Location 6q24.3  [Link to chromosome band 6q24]
Location_base_pair Starts at 145946440 and ends at 146056991 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C16orf62 (16p12.3) / EPM2A (6q24.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)EPM2A   3413
Cards
Entrez_Gene (NCBI)EPM2A  7957  epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
AliasesEPM2; MELF
GeneCards (Weizmann)EPM2A
Ensembl hg19 (Hinxton)ENSG00000112425 [Gene_View]  chr6:145946440-146056991 [Contig_View]  EPM2A [Vega]
Ensembl hg38 (Hinxton)ENSG00000112425 [Gene_View]  chr6:145946440-146056991 [Contig_View]  EPM2A [Vega]
ICGC DataPortalENSG00000112425
TCGA cBioPortalEPM2A
AceView (NCBI)EPM2A
Genatlas (Paris)EPM2A
WikiGenes7957
SOURCE (Princeton)EPM2A
Genetics Home Reference (NIH)EPM2A
Genomic and cartography
GoldenPath hg19 (UCSC)EPM2A  -     chr6:145946440-146056991 -  6q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPM2A  -     6q24.3   [Description]    (hg38-Dec_2013)
EnsemblEPM2A - 6q24.3 [CytoView hg19]  EPM2A - 6q24.3 [CytoView hg38]
Mapping of homologs : NCBIEPM2A [Mapview hg19]  EPM2A [Mapview hg38]
OMIM254780   607566   
Gene and transcription
Genbank (Entrez)AF084535 AF284580 AF454491 AF454492 AF454493
RefSeq transcript (Entrez)NM_001018041 NM_005670
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_012832 NT_025741 NW_004929328
Consensus coding sequences : CCDS (NCBI)EPM2A
Cluster EST : UnigeneHs.486696 [ NCBI ]
CGAP (NCI)Hs.486696
Alternative Splicing GalleryENSG00000112425
Gene ExpressionEPM2A [ NCBI-GEO ]   EPM2A [ EBI - ARRAY_EXPRESS ]   EPM2A [ SEEK ]   EPM2A [ MEM ]
Gene Expression Viewer (FireBrowse)EPM2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7957
GTEX Portal (Tissue expression)EPM2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95278   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95278  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95278
Splice isoforms : SwissVarO95278
Catalytic activity : Enzyme3.1.3.- [ Enzyme-Expasy ]   3.1.3.-3.1.3.- [ IntEnz-EBI ]   3.1.3.- [ BRENDA ]   3.1.3.- [ KEGG ]   
PhosPhoSitePlusO95278
Domaine pattern : Prosite (Expaxy)CBM20 (PS51166)    TYR_PHOSPHATASE_1 (PS00383)    TYR_PHOSPHATASE_2 (PS50056)    TYR_PHOSPHATASE_DUAL (PS50054)   
Domains : Interpro (EBI)Carb-bd-like_fold    CBM_fam20    Dual-sp_phosphatase_cat-dom    DUSP    Ig-like_fold    Prot-tyrosine_phosphatase-like    Tyr_Pase_AS    TYR_PHOSPHATASE_dom    TYR_PHOSPHATASE_DUAL_dom   
Domain families : Pfam (Sanger)CBM_20 (PF00686)    DSPc (PF00782)   
Domain families : Pfam (NCBI)pfam00686    pfam00782   
Domain families : Smart (EMBL)CBM_2 (SM01065)  
Conserved Domain (NCBI)EPM2A
DMDM Disease mutations7957
Blocks (Seattle)EPM2A
PDB (SRS)4R30    4RKK   
PDB (PDBSum)4R30    4RKK   
PDB (IMB)4R30    4RKK   
PDB (RSDB)4R30    4RKK   
Structural Biology KnowledgeBase4R30    4RKK   
SCOP (Structural Classification of Proteins)4R30    4RKK   
CATH (Classification of proteins structures)4R30    4RKK   
SuperfamilyO95278
Human Protein AtlasENSG00000112425
Peptide AtlasO95278
HPRD06345
IPIIPI00423426   IPI00423429   IPI00423430   IPI00423432   IPI00977650   IPI00514548   
Protein Interaction databases
DIP (DOE-UCLA)O95278
IntAct (EBI)O95278
FunCoupENSG00000112425
BioGRIDEPM2A
STRING (EMBL)EPM2A
ZODIACEPM2A
Ontologies - Pathways
QuickGOO95278
Ontology : AmiGOprotein serine/threonine phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein tyrosine phosphatase activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  cytosol  cytosol  polysome  plasma membrane  glycogen metabolic process  glycogen biosynthetic process  protein dephosphorylation  autophagy  nervous system development  protein tyrosine/serine/threonine phosphatase activity  positive regulation of macroautophagy  positive regulation of macroautophagy  carbohydrate phosphatase activity  carbohydrate phosphatase activity  negative regulation of TOR signaling  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  habituation  starch binding  
Ontology : EGO-EBIprotein serine/threonine phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein tyrosine phosphatase activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  cytosol  cytosol  polysome  plasma membrane  glycogen metabolic process  glycogen biosynthetic process  protein dephosphorylation  autophagy  nervous system development  protein tyrosine/serine/threonine phosphatase activity  positive regulation of macroautophagy  positive regulation of macroautophagy  carbohydrate phosphatase activity  carbohydrate phosphatase activity  negative regulation of TOR signaling  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  habituation  starch binding  
NDEx NetworkEPM2A
Atlas of Cancer Signalling NetworkEPM2A
Wikipedia pathwaysEPM2A
Orthology - Evolution
OrthoDB7957
GeneTree (enSembl)ENSG00000112425
Phylogenetic Trees/Animal Genes : TreeFamEPM2A
HOVERGENO95278
HOGENOMO95278
Homologs : HomoloGeneEPM2A
Homology/Alignments : Family Browser (UCSC)EPM2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPM2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPM2A
dbVarEPM2A
ClinVarEPM2A
1000_GenomesEPM2A 
Exome Variant ServerEPM2A
ExAC (Exome Aggregation Consortium)EPM2A (select the gene name)
Genetic variants : HAPMAP7957
Genomic Variants (DGV)EPM2A [DGVbeta]
DECIPHER (Syndromes)6:145946440-146056991  ENSG00000112425
CONAN: Copy Number AnalysisEPM2A 
Mutations
ICGC Data PortalEPM2A 
TCGA Data PortalEPM2A 
Broad Tumor PortalEPM2A
OASIS PortalEPM2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPM2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPM2A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EPM2A
DgiDB (Drug Gene Interaction Database)EPM2A
DoCM (Curated mutations)EPM2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPM2A (select a term)
intoGenEPM2A
Cancer3DEPM2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM254780    607566   
Orphanet117   
MedgenEPM2A
Genetic Testing Registry EPM2A
NextProtO95278 [Medical]
TSGene7957
GENETestsEPM2A
Huge Navigator EPM2A [HugePedia]
snp3D : Map Gene to Disease7957
BioCentury BCIQEPM2A
ClinGenEPM2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7957
Chemical/Pharm GKB GenePA27832
Clinical trialEPM2A
Miscellaneous
canSAR (ICR)EPM2A (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPM2A
EVEXEPM2A
GoPubMedEPM2A
iHOPEPM2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:36:44 CET 2016

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