Entity Details

Primary name EPM2A
Entity type gene
Source Source Link

Details

PrimaryID7957
RefseqGeneNG_012832
SymbolEPM2A
NameEPM2A glucan phosphatase, laforin
Chromosome6
Location6q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEPM2A_HUMAN

GO terms

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GOName
GO:0000045 autophagosome assembly
GO:0001558 regulation of cell growth
GO:0004373 glycogen (starch) synthase activity
GO:0004722 protein serine/threonine phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0006470 protein dephosphorylation
GO:0006816 calcium ion transport
GO:0007005 mitochondrion organization
GO:0008138 protein tyrosine/serine/threonine phosphatase activity
GO:0010629 negative regulation of gene expression
GO:0010923 negative regulation of phosphatase activity
GO:0014009 glial cell proliferation
GO:0015813 L-glutamate transmembrane transport
GO:0016055 Wnt signaling pathway
GO:0016239 positive regulation of macroautophagy
GO:0016311 dephosphorylation
GO:0016791 phosphatase activity
GO:0019203 carbohydrate phosphatase activity
GO:0030246 carbohydrate binding
GO:0030425 dendrite
GO:0031396 regulation of protein ubiquitination
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0035305 negative regulation of dephosphorylation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0042306 regulation of protein import into nucleus
GO:0042803 protein homodimerization activity
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043204 perikaryon
GO:0045786 negative regulation of cell cycle
GO:0045859 regulation of protein kinase activity
GO:0046835 carbohydrate phosphorylation
GO:0046838 phosphorylated carbohydrate dephosphorylation
GO:0046959 habituation
GO:0046983 protein dimerization activity
GO:0061136 regulation of proteasomal protein catabolic process
GO:0098556 cytoplasmic side of rough endoplasmic reticulum membrane
GO:0106306 protein serine phosphatase activity
GO:0106307 protein threonine phosphatase activity
GO:1903076 regulation of protein localization to plasma membrane
GO:1904666 regulation of ubiquitin protein ligase activity
GO:2000465 regulation of glycogen (starch) synthase activity
GO:2001069 glycogen binding
GO:2001070 starch binding

Diseases

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Disease IDSourceNameDescription
254780 OMIMEpilepsy, progressive myoclonic 2 (EPM2)A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM2 is an autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum. The disease is caused by variants affecting the gene represented in this entry.

Interactions

54 interactions

InteractorPartnerSourcesPublicationsLink
EPM2AEPM2ABioGRID, IntAct14532330 18617530 23922729 26493215 30041081 details
EPM2APPP1R3CBioGRID, IntAct14532330 18070875 26493215 30041081 details
EPM2ANHLRC1BioGRID, UniProt15930137 16115820 18029386 18617530 21505799 22578008 23922729 26546463 26648032 30041081 31758957 details
EPM2APRKAB2BioGRID, IntAct18029386 28514442 details
EPM2ACCKIntAct32814053 details
EPM2ALAMP2IntAct32814053 details
EPM2ASH3GLB1IntAct32814053 details
EPM2ANFU1BioGRID, HPRD12915448 details
EPM2AGSK3BBioGRID16115820 details
EPM2APRKAA2BioGRID18029386 details
EPM2APRKAA1BioGRID21728993 details
EPM2APPP1R3DBioGRID23624058 30041081 details
EPM2ASRPK2BioGRID26167880 details
EPM2APKMBioGRID26493215 details
EPM2ATOPORSBioGRID26493215 details
EPM2ACOX5ABioGRID26493215 details
EPM2ATDGBioGRID26493215 details
EPM2APSMC3BioGRID26493215 details
EPM2AHMGXB4BioGRID26493215 details
EPM2AEIF2B1BioGRID26493215 details
EPM2AGYS1IntAct14532330 details
EPM2ASTUB1BioGRID21652633 details
EPM2AUBE2NBioGRID26546463 details
EPM2ASQSTM1BioGRID26546463 details
EPM2AATXN1BioGRID29852174 details
EPM2ABECN1BioGRID31758957 details
EPM2APIK3R4BioGRID31758957 details
EPM2APIK3C3BioGRID31758957 details
EPM2AEPM2AIP1HPRD12782127 details
EPM2AUBA1UniProt15930137 details
EPM2ASTBD1BioGRID, IntAct26186194 28514442 details
EPM2ARPL10BioGRID26496610 details
EPM2AOTUB1BioGRID26752685 details
EPM2AHEXIM1BioGRID29845934 details
EPM2AAIPBioGRID28675297 details
EPM2AANKMY2BioGRID28675297 details
EPM2ACCT5BioGRID28675297 details
EPM2AFKBP5BioGRID28675297 details
EPM2AHSPA4BioGRID28675297 details
EPM2AHSPA4LBioGRID28675297 details
EPM2ACLUHBioGRID28675297 details
EPM2AMCMBPBioGRID28675297 details
EPM2APPP5CBioGRID28675297 details
EPM2APPP6R1BioGRID28675297 details
EPM2APPP6R2BioGRID28675297 details
EPM2APSMB1BioGRID28675297 details
EPM2APSMD4BioGRID28675297 details
EPM2APSME3BioGRID28675297 details
EPM2APTGES3BioGRID28675297 details
EPM2ASTIP1BioGRID28675297 details
EPM2ATOMM34BioGRID28675297 details
EPM2ATOMM70BioGRID28675297 details
EPM2AVBP1BioGRID28675297 details
EPM2AVCPBioGRID28675297 details