Homo sapiens Gene: EPM2A
Summary
InnateDB Gene IDBG-97515.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EPM2A
Gene Name epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Synonyms EPM2; MELF;
Species Homo sapiens
Ensembl Gene ENSG00000112425
Encoded Proteins
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Protein Structure
Entrez Gene
Summary This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:145501583-145736024
Strand Reverse strand
Band q24.3
Transcripts
ENST00000367519 ENSP00000356489
ENST00000450221 ENSP00000414900
ENST00000435470 ENSP00000405913
ENST00000496228
ENST00000489412
ENST00000461700
ENST00000618445 ENSP00000480339
ENST00000611340 ENSP00000480268
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 24 [view]
Protein-Protein 22 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004722 protein serine/threonine phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0008138 protein tyrosine/serine/threonine phosphatase activity
GO:0016791 phosphatase activity
GO:0019203 carbohydrate phosphatase activity
GO:0030246 carbohydrate binding
GO:2001070 starch binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0006006 glucose metabolic process
GO:0006470 protein dephosphorylation
GO:0006914 autophagy
GO:0007399 nervous system development
GO:0016311 dephosphorylation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0044281 small molecule metabolic process
GO:0046855 inositol phosphate dephosphorylation
GO:0046959 habituation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005844 polysome
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Myoclonic epilepsy of Lafora pathway
Glycogen synthesis pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O95278
TrEMBL H0UI04
UniProt Splice Variant
Entrez Gene 7957
UniGene Hs.708565
RefSeq NM_001018041 NM_005670
HUGO HGNC:3413
OMIM 607566
CCDS CCDS5206
HPRD 06345
IMGT
EMBL AF084535 AF284580 AF454491 AF454492 AF454493 AF454494 AJ130763 AJ130764 AK022721 AK299497 AL023806 AL365193 BC005286 BC070047 CH471051
GenPept AAC83347 AAG18377 AAH05286 AAH70047 AAO15523 AAO15524 AAO15525 AAO15526 BAG51107 BAG61454 CAA10199 CAA10200 CAI21419 CAI21675 EAW47842 EAW47843 EAW47844
ImmGen EPM2A (murine)
RNA Seq Atlas 7957