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

Identity

Other namesEPM2
MELF
HGNC (Hugo) EPM2A
LocusID (NCBI) 7957
Location 6q24.3
Location_base_pair Starts at 145946440 and ends at 146056991 bp from pter ( according to hg19-Feb_2009)
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)
GeneCards (Weizmann)EPM2A
Ensembl (Hinxton)ENSG00000112425 [Gene_View]  chr6:145946440-146056991 [Contig_View]  EPM2A [Vega]
AceView (NCBI)EPM2A
Genatlas (Paris)EPM2A
WikiGenes7957
SOURCE (Princeton)NM_001018041 NM_005670
Genomic and cartography
GoldenPath (UCSC)EPM2A  -  6q24.3   chr6:145946440-146056991 -  6q24.3   [Description]    (hg19-Feb_2009)
EnsemblEPM2A - 6q24.3 [CytoView]
Mapping of homologs : NCBIEPM2A [Mapview]
OMIM254780   607566   
Gene and transcription
Genbank (Entrez)AF084535 AF284580 AF454491 AF454492 AF454493
RefSeq transcript (Entrez)NM_001018041 NM_005670
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_012832 NT_025741 NW_001838990 NW_004929328
Consensus coding sequences : CCDS (NCBI)EPM2A
Cluster EST : UnigeneHs.486696 [ NCBI ]
CGAP (NCI)Hs.486696
Alternative Splicing : Fast-db (Paris)GSHG0026975
Alternative Splicing GalleryENSG00000112425
Gene ExpressionEPM2A [ NCBI-GEO ]     EPM2A [ SEEK ]   EPM2A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95278 (Uniprot)
NextProtO95278  [Medical]
With graphics : InterProO95278
Splice isoforms : SwissVarO95278 (Swissvar)
Catalytic activity : Enzyme3.1.3.16 [ Enzyme-Expasy ]   3.1.3.163.1.3.16 [ IntEnz-EBI ]   3.1.3.16 [ BRENDA ]   3.1.3.16 [ KEGG ]   
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    Dual-sp_phosphatase_subgr_cat    DUSP    Ig-like_fold    Tyr/Dual-sp_Pase    Tyr_Pase_AS   
Related proteins : CluSTrO95278
Domain families : Pfam (Sanger)CBM_20 (PF00686)    DSPc (PF00782)   
Domain families : Pfam (NCBI)pfam00686    pfam00782   
Domain families : Smart (EMBL)CBM_2 (SM01065)  
DMDM Disease mutations7957
Blocks (Seattle)O95278
Human Protein AtlasENSG00000112425
Peptide AtlasO95278
HPRD06345
IPIIPI00423426   IPI00423429   IPI00423430   IPI00423432   IPI00977650   IPI00514548   
Protein Interaction databases
DIP (DOE-UCLA)O95278
IntAct (EBI)O95278
FunCoupENSG00000112425
BioGRIDEPM2A
InParanoidO95278
Interologous Interaction database O95278
IntegromeDBEPM2A
STRING (EMBL)EPM2A
Ontologies - Pathways
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  polysome  plasma membrane  glycogen metabolic process  protein dephosphorylation  nervous system development  behavior  protein tyrosine/serine/threonine phosphatase activity  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  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  polysome  plasma membrane  glycogen metabolic process  protein dephosphorylation  nervous system development  behavior  protein tyrosine/serine/threonine phosphatase activity  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  starch binding  
REACTOMEEPM2A
Protein Interaction DatabaseEPM2A
Wikipedia pathwaysEPM2A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EPM2A
SNP (GeneSNP Utah)EPM2A
SNP : HGBaseEPM2A
Genetic variants : HAPMAPEPM2A
1000_GenomesEPM2A 
ICGC programENSG00000112425 
Somatic Mutations in Cancer : COSMICEPM2A 
CONAN: Copy Number AnalysisEPM2A 
Mutations and Diseases : HGMDEPM2A
OMIM254780    607566   
GENETestsEPM2A
Disease Genetic AssociationEPM2A
Huge Navigator EPM2A [HugePedia]  EPM2A [HugeCancerGEM]
Genomic VariantsEPM2A  EPM2A [DGVbeta]
Exome VariantEPM2A
dbVarEPM2A
ClinVarEPM2A
snp3D : Map Gene to Disease7957
General knowledge
Homologs : HomoloGeneEPM2A
Homology/Alignments : Family Browser (UCSC)EPM2A
Phylogenetic Trees/Animal Genes : TreeFamEPM2A
Chemical/Protein Interactions : CTD7957
Chemical/Pharm GKB GenePA27832
Clinical trialEPM2A
Cancer Resource (Charite)ENSG00000112425
Other databases
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
CoreMineEPM2A
iHOPEPM2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Mar 31 09:25:28 CEST 2014

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