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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EPM2A Gene

protein-coding   GIFtS: 56
GCID: GC06M145822

epilepsy, progressive myoclonus type 2A, Lafora disease...

(Previous names: epilepsy, progressive myoclonus type 2, Lafora disease...)
 Explore 8 diseases affiliated with
EPM2A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EPM2A    

Aliases
for EPM2A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin)1 2     LD1
Epilepsy, Progressive Myoclonus Type 2, Lafora Disease (Laforin)1 2     LDE1
Lafora PTPase2 3     Laforin1
LAFPTPase2 3     EC 3.1.3.163
EPM22 5     EC 3.1.3.483
MELF2 5     

External Ids:    HGNC: 34131   Entrez Gene: 79572   Ensembl: ENSG000001124257   OMIM: 6075665   UniProtKB: B3EWF73   
UniProtKB: O952783   

Export aliases for EPM2A gene to outside databases

Previous GC identifers: GC06M145569 GC06M145794 GC06M145927 GC06M145988 GC06M143510


Summaries
for EPM2A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for EPM2A:
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)

UniProtKB/Swiss-Prot: EPM2A_HUMAN, O95278
Function: Dual specificity protein phosphatase. May be involved in the control of glycogen metabolism, particularly in
monitoring for and preventing the formation of poorly branched glycogen molecules (polyglucosans). Acts as a scaffold
protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Forms a complex with NHLRC1/malin and HSP70 and this
complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the
ubiquitin-proteasome system (UPS). Isoform 2, an inactive phosphatase, could function as a dominant-negative regulator
for the phosphatase activity of isoform 1




Genomic Views
for EPM2A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPM2A gene promoter:
         HFH-3   AP-4   MEF-2A   FOXI1   Max   FOXO1a   c-Myb   FOXO1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EPM2A promoter sequence
   Search SABiosciences Chromatin IP Primers for EPM2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPM2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q24   Ensembl cytogenetic band:  6q24.3   HGNC cytogenetic band: 6q24

EPM2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPM2A gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M145822:  view genomic region     (about GC identifiers)

Start:
 145,822,719 bp from pter      End:
 146,057,160 bp from pter
Size:
 234,442 bases      Orientation:
 minus strand

Proteins
for EPM2A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: EP2A2_HUMAN, B3EWF7 (See protein sequence)
Recommended Name: Laforin, isoform 9  
Size: 344 amino acids; 35169 Da
Subunit: Interacts with isoform 1 and isoform 2
Subcellular location: Nucleus
Alternative splicing, Alternative initiation: 9 isoforms:  B3EWF7-1   O95278-1   O95278-2   O95278-3   O95278-4   O95278-5   O95278-6   O95278-7   
O95278-8   (Produced by alternative splicing. No experimental confirmation available)

UniProtKB/Swiss-Prot: EPM2A_HUMAN, O95278 (See protein sequence)

Recommended Name: Laforin  
Size: 331 amino acids; 37158 Da
Subunit: Interacts with itself. Interacts also with PPP1R3C, HIRIP5 and EPM2AIP1. Binds glycogen and Lafora bodies.
Interacts with NHLRC1/malin (via the NHL repeats). Forms a complex with NHLRC1/malin and HSP70. Isoform 2 does not
bind glycogen. Isoform 1 and isoform 2 interact to form a heterodimeric complex inactive as phosphatase in vitro.
Active phosphatase isoform 7 interacts with isoform 1 or isoform 2 to form a heterodimeric complex inactive as
phosphatase in vitro
Subcellular location: Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus
Subcellular location: Isoform 1: Endoplasmic reticulum. Cell membrane. Note=Primarily associated with polyribosomes at
the endoplasmic reticulum, also found at the plasma membrane
Subcellular location: Isoform 2: Endoplasmic reticulum. Cell membrane. Nucleus. Note=Also found in the nucleus
Subcellular location: Isoform 4: Cytoplasm. Nucleus
Subcellular location: Isoform 5: Cytoplasm. Nucleus
Subcellular location: Isoform 7: Cytoplasm
Sequence caution: Sequence=BAG51107.1; Type=Frameshift; Positions=223;
Secondary accessions: B3KMU5 B4DRZ2 O95483 Q5T3F5 Q6IS15 Q8IU96 Q8IX24 Q8IX25 Q9BS66 Q9UEN2
Alternative splicing, Alternative initiation: 9 isoforms:  O95278-1   O95278-2   O95278-3   O95278-4   O95278-5   O95278-6   O95278-7   O95278-8   
B3EWF7-1   (Produced by alternative initiation. Arises due to the use of an alternative initiation codon in exon 1 out of frame with isoform 1 and results in a completely different isoform)

Explore the universe of human proteins at neXtProt for EPM2A: NX_O95278

Post-translational modifications:

  • Polyubiquitinated by NHLRC1/malin1
  • Phosphorylation on Ser-25 by AMPK affects the phosphatase activity of the enzyme and its ability to homodimerize and
    • interact with NHLRC1, PPP1R3C or PRKAA21
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95278

    • EPM2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018051.1  NP_005661.1  

    ENSEMBL proteins: 
     ENSP00000414900   ENSP00000356489   ENSP00000405913  

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    Uscn Proteins for EPM2A

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA17908927
    GO:0005783endoplasmic reticulum IEA--
    GO:0005829cytosol IDA12915448
    GO:0005844polysome IDA11001928


    EPM2A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for EPM2A

    Protein Domains /
    Families
    for EPM2A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EPM2A for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR013784 Carb-bd-like_fold
     IPR020422 Dual-sp_phosphatase_subgr_cat
     IPR002044 CBM_fam20
     IPR016130 Tyr_Pase_AS
     IPR024950 DUSP

    Graphical View of Domain Structure for InterPro Entry B3EWF7
    Graphical View of Domain Structure for InterPro Entry O95278

    ProtoNet protein and cluster: B3EWF7

    UniProtKB/Swiss-Prot: EPM2A_HUMAN, O95278
    Similarity: Belongs to the protein-tyrosine phosphatase family
    Similarity: Contains 1 CBM20 (carbohydrate binding type-20) domain
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    Function
    for EPM2A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: EPM2A_HUMAN, O95278
    Function: Dual specificity protein phosphatase. May be involved in the control of glycogen metabolism, particularly in
    monitoring for and preventing the formation of poorly branched glycogen molecules (polyglucosans). Acts as a scaffold
    protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Forms a complex with NHLRC1/malin and HSP70 and this
    complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the
    ubiquitin-proteasome system (UPS). Isoform 2, an inactive phosphatase, could function as a dominant-negative regulator
    for the phosphatase activity of isoform 1
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Catalytic activity: A phosphoprotein + H(2)O = a protein + phosphate

         Genatlas biochemistry entry for EPM2A:
    laforin,tyrosine phosphatase with two alternative C terminini,putatively governing the localization of the protein
    either in cytoplasmic membrane or in the nucleus

    Enzyme Numbers (IUBMB): EC 3.1.3.161 EC 3.1.3.481

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004722protein serine/threonine phosphatase activity TAS11001928
    GO:0004725protein tyrosine phosphatase activity NAS9931343
    GO:0005515protein binding IPI14532330
    GO:0008138protein tyrosine/serine/threonine phosphatase activity IEA--
    GO:2001070starch binding IEA--


    EPM2A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for EPM2A:
     Decreased focal adhesion (FA)  

    Animal Models:
         Mouse knock-out Epm2atm1Kzy for EPM2A
         10 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Epm2a):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size 
     homeostasis/metabolism  liver/biliary system  muscle  nervous system  other 

    EPM2A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EPM2A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPM2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/15 Interacting proteins for EPM2A (O952781, 3 ENSP000003564894) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1R3CQ9UQK11, 3, ENSP000002389944EBI-2506661,EBI-2506727 I2D: score=2 STRING: ENSP00000238994
    EPM2AIP1Q7L7753, ENSP000004060274I2D: score=3 STRING: ENSP00000406027
    GSK3BP498413, ENSP000003248064I2D: score=2 STRING: ENSP00000324806
    HSPA5P110213, ENSP000003241734I2D: score=1 STRING: ENSP00000324173
    PRKAB2O437413, ENSP000002541014I2D: score=1 STRING: ENSP00000254101
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005977glycogen metabolic process NAS9931343
    GO:0006470protein dephosphorylation IDA11001928
    GO:0007399nervous system development IEA--
    GO:0007610behavior IEA--
    GO:0035335peptidyl-tyrosine dephosphorylation NAS9931343


    EPM2A for ontologies           About GeneDecksing



    Drugs & Compounds
    for EPM2A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EPM2A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for EPM2A

    4 HMDB Compounds for EPM2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    GlycogenAnimal starch (see all 5)9005-79-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    6 Novoseek chemical compound relationships for EPM2A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dspd 93.6 3 14706656 (1), 16971387 (1)
    glycogen 66 42 14532330 (7), 18070875 (4), 15541350 (2), 19529779 (2) (see all 8)
    starch 47.6 4 15102711 (2), 19754155 (1), 17646401 (1)
    tyrosine 20.9 12 11220751 (2), 9771710 (1), 11001928 (1), 16134145 (1) (see all 7)
    polysaccharide 13.8 4 16901901 (2), 15541350 (1)
    glucose 0 1 19754155 (1)

    Search CenterWatch for drugs/clinical trials and news about EPM2A 

    Transcripts
    for EPM2A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for EPM2A gene (2 alternative transcripts): 
    NM_001018041.1  NM_005670.3  

    Unigene Cluster for EPM2A:

    Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
    Hs.486696  [show with all ESTs]
    Unigene Representative Sequence: AF454492
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450221 ENST00000367519(uc003qku.3 uc003qkv.3 uc003qkw.3 uc010khr.3 uc003qkx.3)
    ENST00000435470 ENST00000496228 ENST00000489412 ENST00000461700

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    Inhib. RNA
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    Additional cDNA sequence: 

    AF084535.2 AF284580.1 AF454491.1 AF454492.1 AF454493.1 AF454494.1 AJ130763.1 AJ130764.1 
    AK022721.1 AK299497.1 BC005286.1 BC070047.1 

    9 DOTS entries:

    DT.100711718  DT.99999469  DT.97804257  DT.452056  DT.100644933  DT.100746950  DT.308712  DT.91657338 
    DT.99954201 

    24/95 AceView cDNA sequences (see all 95):

    AI246656 BF512276 AI242588 AI800734 AI083612 AA280568 CA314978 AF454494 
    AA280272 AA421759 AW269979 BE504241 AJ130764 AA490925 AL832126 AI276173 
    AA400648 CR616412 AA400516 BM692985 BM668332 AI760402 AI678210 AI379289 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for EPM2A (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b
    SP1:                                                  -                                             
    SP2:                                      -           -                 -     -     -               
    SP3:              -     -     -     -     -           -                                             
    SP4:                                      -           -                                             
    SP5:              -     -     -     -     -           -     -                                       


    ECgene alternative splicing isoforms for EPM2A

    Expression
    for EPM2A gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EPM2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATACAAAGAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See EPM2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPM2A

    SOURCE GeneReport for Unigene cluster: Hs.486696

    UniProtKB/Swiss-Prot: EPM2A_HUMAN, O95278
    Tissue specificity: Expressed in heart, skeletal muscle, kidney, pancreas and brain. Isoform 4 is also expressed in the
    placenta

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    In Situ
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    Orthologs
    for EPM2A gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for EPM2A gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Epm2a1 , 5 epilepsy, progressive myoclonic epilepsy, type 2 gene more1, 5 86.77(n)1
    89.7(a)1    		   10 (3.66 cM)5
    138531  NM_010146.21  NP_034276.21 
     113434045 
    chicken
    (Gallus gallus)    		 Aves EPM2A1 epilepsy, progressive myoclonus type 2A, Lafora disease more 75.58(n)
    77.71(a)    		   421611  NM_001031069.1  NP_001026240.1 
    lizard
    (Anolis carolinensis)    		 Reptilia EPM2A6
    		 --
    		 85(a)
    		 1 ↔ 1
    		 1(206989912-207013552)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1005353041 laforin-like 67.97(n)
    66.12(a)    		   100535304  XM_003201159.1  XP_003201207.1 


    ENSEMBL Gene Tree for EPM2A (if available)
    TreeFam Gene Tree for EPM2A (if available) 

    Paralogs
    for EPM2A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for EPM2A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1790 NCBI SNPs in EPM2A are shown (see all 1790)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048939551,2
    		Cpathogenic166626055(-) GGCGTG/TGGGAG 4 G W mis10--------
    rs1048939501,2
    		Cpathogenic166733407(-) CAGGCC/TGAGTA 4 R * stg10--------
    rs1378529171,2
    		Cpathogenic166733521(-) TCTGCA/GGCTGG 4 S G mis10--------
    rs1170556251,2
    		C,F,--143510142(+) AAAGGA/GACAAA 2 -- ut311Minor allele frequency- G:0.02NA 120
    rs735683891,2
    		C,F,--143510473(+) TCCCCG/ATCCTC 2 -- ut31 int14Minor allele frequency- A:0.22WA CSA 123
    rs412858471,2
    		--143511108(+) AATTTC/TCACTC 2 -- ut31 int10--------
    rs610953941,2
    		C,--143511152(+) AGCTTG/TCACAA 2 -- ut31 int11Minor allele frequency- T:0.50WA 2
    rs602830491,2
    		C,--143511184(+) TCTTTG/AGCAAC 2 -- ut31 int11Minor allele frequency- A:0.50WA 2
    rs792533821,2
    		--143511439(+) AACAAA/GGGTAT 2 -- int1 ut310--------
    rs796042031,2
    		C,F,--143511681(+) CTGACC/AAGCTC 2 -- int1 ut311Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for EPM2A (145822719 - 146057160 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EPM2A: --
    Human Gene Mutation Database (HGMD): EPM2A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EPM2A
    DNA2.0 Custom Variant and Variant Library Synthesis for EPM2A

    Disorders / Diseases
    for EPM2A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EPM2A for disorders           About GeneDecksing

    OMIM gene information: 607566   
    OMIM disorders: 254780  
    UniProtKB/Swiss-Prot: EPM2A_HUMAN, O95278
  • Defects in EPM2A are a cause of progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]; also known as
    • Lafora disease. 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

    8 diseases for EPM2A:    About MalaCards
    lafora disease    myoclonus    progressive myoclonus epilepsy    myoclonus epilepsy
    neurodegenerative disease    dementia    brain disease    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for EPM2A:
    Progressive myoclonus epilepsy     Neurodegenerative disease

    8 Novoseek disease relationships for EPM2A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lafora disease 99.1 179 10092504 (7), 11735300 (7), 11355878 (7), 11175283 (6) (see all 47)
    progressive myoclonus epilepsies 97.9 25 11001928 (2), 11739371 (2), 12782127 (2), 10092504 (1) (see all 17)
    epilepsies myoclonic 71.9 2 12019207 (1)
    myoclonic seizure 66.6 1 12019207 (1)
    epilepsy 60.9 8 10092504 (1), 16623901 (1), 12958597 (1), 16513634 (1) (see all 7)
    neurodegenerative diseases 53.2 3 19754155 (1), 16901901 (1), 11739371 (1)
    dementia 37 2 12019207 (1), 16115820 (1)
    tumors 3.69 3 16959610 (2), 16971387 (1)

    GeneTests: EPM2A
    Progressive Myoclonus Epilepsy, Lafora Type

    Human Genome Epidemiology (HuGE) Navigator: EPM2A (1 document)

    Export disorders for EPM2A gene to outside databases

    Publications
    for EPM2A gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EPM2A gene, integrated from 9 sources (see all 86):
    (articles sorted by number of sources associating them with EPM2A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. (PubMed id 14532330)1, 2, 9 Fernandez-Sanchez M.E.... Rodriguez de Cordoba S. (2003)
    2. Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. (PubMed id 11001928)1, 2, 9 Ganesh S.... Yamakawa K. (2000)
    3. Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product. (PubMed id 12782127)1, 2, 9 Ianzano L.... Scherer S.W. (2003)
    4. Alternative splicing modulates subcellular localization of laforin. (PubMed id 11883934)1, 2, 9 Ganesh S.... Yamakawa K. (2002)
    5. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. (PubMed id 11175283)1, 2, 9 Gomez-Garre P.... Serratosa J.M. (2000)
    6. Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene. (PubMed id 11735300)1, 2, 9 Ganesh S.... Yamakawa K. (2001)
    7. Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG). (PubMed id 18070875)1, 2, 9 Worby C.A....Dixon J.E. (2008)
    8. Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. (PubMed id 12019207)1, 2, 9 Ganesh S.... Yamakawa K. (2002)
    9. Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. (PubMed id 15930137)1, 2, 9 Gentry M.S....Dixon J.E. (2005)
    10. The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. (PubMed id 12915448)1, 2, 9 Ganesh S.... Yamakawa K. (2003)

    External Searches for EPM2A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing EPM2A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7957 HGNC: 3413 AceView: EPM2A Ensembl:ENSG00000112425 euGenes: HUgn7957
    ECgene: EPM2A H-InvDB: EPM2A

    Other Databases showing EPM2A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EPM2A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EPM2A Pharmacogenomics, SNPs, Pathways
    The Lafora progressive myoclonus epilepsy mutation and polymorphism databasehttp://projects.tcag.ca/lafora/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EPM2A

    Intellectual Property
    for EPM2A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for EPM2A gene:
    Search GeneIP for patents involving EPM2A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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