Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



EPM2A Gene

protein-coding   GIFtS: 60
GCID: GC06M145822

Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease...

(Previous names: epilepsy, progressive myoclonus type 2, Lafora disease (laforin))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin)1 2     MELF2 5
Epilepsy, Progressive Myoclonus Type 2, Lafora Disease (Laforin)1 2     laforin2
Lafora PTPase2 3     EC 3.1.3.163
LAFPTPase2 3     EC 3.1.3.483
EPM22 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


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

TryGeneCards Plus

Entrez Gene summary for EPM2A Gene:
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)

GeneCards Summary for EPM2A Gene:
EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)) is a protein-coding gene. Diseases associated with EPM2A include epm2a-related lafora disease, and myoclonus. GO annotations related to this gene include protein tyrosine phosphatase activity and protein tyrosine/serine/threonine phosphatase activity.

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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 plasmidEPM2A promoter sequence
   Search Chromatin IP Primers for EPM2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
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
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

Explore proteomics data for EPM2A at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EPM2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000414900   ENSP00000356489   ENSP00000405913  
    Reactome Protein details: O95278

    EPM2A Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for EPM2A
    OriGene Custom MassSpec
    OriGene Custom Protein Services for EPM2A
    GenScript Custom Purified and Recombinant Proteins Services for EPM2A
    Novus Biologicals EPM2A Proteins
    Novus Biologicals EPM2A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    EPM2A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EPM2A
    R&D Systems Antibodies for EPM2A (Laforin/EPM2A)
    OriGene Antibodies for EPM2A
    OriGene Custom Antibody Services for EPM2A
    Novus Biologicals EPM2A Antibodies
    Abcam antibodies for EPM2A
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for EPM2A
    LSBio Antibodies in human, mouse, rat for EPM2A

    EPM2A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EPM2A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EPM2A
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    DUSPA: Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases

    Selected InterPro protein domains (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


    EPM2A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + 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

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004722protein serine/threonine phosphatase activity TAS11001928
    GO:0004725protein tyrosine phosphatase activity NAS9931343
    GO:0005515protein binding IPI12915448
    GO:0008138protein tyrosine/serine/threonine phosphatase activity IEA--
    GO:0016791phosphatase activity ----
         
    EPM2A for ontologies           About GeneDecksing


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

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Epm2a):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size/body 
     homeostasis/metabolism  liver/biliary system  muscle  nervous system  other 

    EPM2A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Epm2atm1Kzy for EPM2A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EPM2A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EPM2A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPM2A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPM2A

    miRNA
    Products:
        
    miRTarBase miRNAs that target EPM2A:
    hsa-mir-21-5p (MIRT030853), hsa-mir-192-5p (MIRT026512), hsa-mir-215-5p (MIRT024904)

    Block miRNA regulation of human, mouse, rat EPM2A using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate EPM2A
    SwitchGear 3'UTR luciferase reporter plasmidEPM2A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EPM2A
    Predesigned siRNA for gene silencing in human, mouse, rat EPM2A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPM2A

    Clone
    Products:
         
    OriGene clones in human, mouse for EPM2A (see all 11)
    OriGene ORF clones in mouse, rat for EPM2A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EPM2A (NM_001018041)
    Sino Biological Human cDNA Clone for EPM2A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPM2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPM2A

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EPM2A
    Browse ESI BIO Cell Lines and PureStem Progenitors for EPM2A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPM2A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    EP2A2_HUMAN, B3EWF7: Nucleus
    EPM2A_HUMAN, O95278: Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus
    EPM2A_HUMAN, O95278: Isoform 1: Endoplasmic reticulum. Cell membrane. Note=Primarily associated with
    polyribosomes at the endoplasmic reticulum, also found at the plasma membrane
    EPM2A_HUMAN, O95278: Isoform 2: Endoplasmic reticulum. Cell membrane. Nucleus. Note=Also found in the nucleus
    EPM2A_HUMAN, O95278: Isoform 4: Cytoplasm. Nucleus
    EPM2A_HUMAN, O95278: Isoform 5: Cytoplasm. Nucleus
    EPM2A_HUMAN, O95278: Isoform 7: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endoplasmic reticulum5
    nucleus5
    plasma membrane5
    chloroplast1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

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

    EPM2A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for EPM2A About    
    See pathways by source

    SuperPathContained pathways About
    1Glucose metabolism
    Glucose metabolism0.44
    Glycogen synthesis0.00
    2MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    3Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for EPM2A
        Glycogen synthesis
    Myoclonic epilepsy of Lafora



    EPM2A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EPM2A
    Interactions:

        GeneGlobe Interaction Network for EPM2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EPM2A (O952781, 3 ENSP000003564894) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    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): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process NAS9931343
    GO:0005978glycogen biosynthetic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006470protein dephosphorylation IDA11001928

    EPM2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    EPM2A for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EPM2A using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate EPM2A
    SwitchGear 3'UTR luciferase reporter plasmidEPM2A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EPM2A
    Predesigned siRNA for gene silencing in human, mouse, rat EPM2A
    Clone
    Products:
         
    OriGene clones in human, mouse for EPM2A (see all 11)
    OriGene ORF clones in mouse, rat for EPM2A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EPM2A (NM_001018041)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPM2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPM2A
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EPM2A
    OriGene qSTAR qPCR primer pairs in human, mouse for EPM2A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPM2A
      QuantiTect SYBR Green Assays in human, mouse, rat EPM2A
      QuantiFast Probe-based Assays in human, mouse, rat EPM2A

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 95):

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

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    EPM2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATACAAAGAT
    EPM2A Expression
    About this image

    EPM2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPM2A Protein Expression

    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

        Custom PCR Arrays for EPM2A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for EPM2A
    OriGene qSTAR qPCR primer pairs in human, mouse for EPM2A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPM2A
    QuantiTect SYBR Green Assays in human, mouse, rat EPM2A
    QuantiFast Probe-based Assays in human, mouse, rat EPM2A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPM2A

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for EPM2A gene from Selected species (see all 11)    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)
    78.03(a)
      421611  NM_001031069.1  NP_001026240.1 
    lizard
    (Anolis carolinensis)
    Reptilia EPM2A6
    epilepsy, progressive myoclonus type 2A, Lafora di...
    85(a)
    1 ↔ 1
    1(206989886-207061524)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia epm2a1 epilepsy, progressive myoclonus type 2A, Lafora disease more 68.48(n)
    69.97(a)
      100170449  NM_001130223.1  NP_001123695.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epm2a1 epilepsy, progressive myoclonus type 2A, Lafora disease more 67.97(n)
    66.12(a)
      100535304  XM_003201159.2  XP_003201207.2 


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

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

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for EPM2A (see all 2212)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0194794
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194792 Q L mis40--------
    VAR_0463864
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463862 L W mis40--------
    VAR_0194784
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194782 G S mis40--------
    VAR_0194664
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194662 E K mis40--------
    VAR_0194654
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194652 S P mis40--------
    VAR_0194814
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194812 P L mis40--------
    VAR_0194714
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194712 R P mis40--------
    VAR_0194744
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194742 R H mis40--------
    VAR_0194674
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194672 W G mis40--------
    VAR_0194774
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194772 G S mis40--------

    HapMap Linkage Disequilibrium report for EPM2A (145822719 - 146057160 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for EPM2A: --
    Human Gene Mutation Database (HGMD): EPM2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EPM2A
    DNA2.0 Custom Variant and Variant Library Synthesis for EPM2A

    (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

    TryGeneCards Plus
    OMIM gene information: 607566   
    OMIM disorders: 254780  
    UniProtKB/Swiss-Prot: EPM2A_HUMAN, O95278
  • Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for EPM2A:    
    About MalaCards
    epm2a-related lafora disease    myoclonus    epilepsy, progressive myoclonic 2a    lafora disease
    epilepsy, progressive myoclonic 2b    progressive myoclonus epilepsy, lafora type    myoclonus epilepsy    progressive myoclonus epilepsy
    brain disease    dementia    multiple myeloma    myeloma
    neuronitis

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

    EPM2A for disorders           About GeneDecksing

    8 Novoseek inferred 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
    GeneReviews: EPM2A
    Genetic Association Database (GAD): EPM2A
    Human Genome Epidemiology (HuGE) Navigator: EPM2A (1 document)

    Export disorders for EPM2A gene to outside databases

    (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

    TryGeneCards Plus

    PubMed articles for EPM2A gene, integrated from 10 sources (see all 90):
    (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. (Hum. Mol. Genet. 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. (Hum. Mol. Genet. 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. (Genomics 2003)
    4. Alternative splicing modulates subcellular localization of laforin. (PubMed id 11883934)1, 2, 9 Ganesh S.... Yamakawa K. (Biochem. Biophys. Res. Commun. 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. (Eur. J. Hum. Genet. 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. (Mol. Cell. Probes 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. (J. Biol. Chem. 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. (Hum. Mol. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Hum. Mol. Genet. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 7957 HGNC: 3413 AceView: EPM2A Ensembl:ENSG00000112425 euGenes: HUgn7957
    ECgene: EPM2A H-InvDB: EPM2A

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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/books/NBK1116/?term=EPM2A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     EMD Millipore Mono- and Polyclonal Antibodies for the study of EPM2A
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for EPM2A (Laforin/EPM2A)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for EPM2A   OriGene RNAi products in human, mouse, rat for EPM2A  
     OriGene qPCR primer pairs and template standards for EPM2A   OriGene Protein Over-expression Lysate for EPM2A  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for EPM2A  
     OriGene qSTAR qPCR primer pairs in human, mouse for EPM2A   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for EPM2A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EPM2A   OriGene Custom Protein Services for EPM2A  

     
     
     Block miRNA regulation of human, mouse, rat EPM2A using miScript Target Protectors SeqTarget long-range PCR primers for resequencing EPM2A
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EPM2A Predesigned siRNA for gene silencing in human, mouse, rat EPM2A
     QuantiFast Probe-based Assays in human, mouse, rat EPM2A QuantiTect SYBR Green Assays in human, mouse, rat EPM2A
     Custom PCR Arrays for EPM2A Search Chromatin IP Primers for EPM2A
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPM2A  GeneGlobe Interaction Network for EPM2A
     Regulatory tfbs in EPM2A promoter
     GenScript Custom Purified and Recombinant Proteins Services for EPM2A GenScript cDNA clones with any tag delivered in your preferred vector for EPM2A
     GenScript Custom Assay Services for EPM2A GenScript Custom overexpressing Cell Line Services for EPM2A
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for EPM2A
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for EPM2A
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     EPM2A antibodies
     EPM2A proteins
     EPM2A lysates
     Antibodies for EPM2A
     See all of Abcam's Antibodies, Kits and Proteins for EPM2A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for EPM2A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPM2A
     SwitchGear 3'UTR luciferase reporter plasmids for EPM2A
     SwitchGear Promoter luciferase reporter plasmids for EPM2A
     ThermoFisher Antibody for EPM2A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPM2A
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EPM2A
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EPM2A
     LSBio Antibodies in human, mouse, rat for EPM2A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      EPM2A gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4