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    Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha [ Mus musculus (house mouse) ]

    Gene ID: 13853, updated on 9-Dec-2024

    Summary

    Official Symbol
    Epm2aprovided by MGI
    Official Full Name
    epilepsy, progressive myoclonic epilepsy, type 2 gene alphaprovided by MGI
    Primary source
    MGI:MGI:1341085
    See related
    Ensembl:ENSMUSG00000055493 AllianceGenome:MGI:1341085
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    TG-B; Tg(TcraK,TcrbK)TG-BFlv
    Summary
    Enables several functions, including alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity; phosphatase activity; and starch binding activity. Involved in carbohydrate phosphorylation and glycogen biosynthetic process. Acts upstream of or within several processes, including habituation; regulation of protein localization; and regulation of protein metabolic process. Located in several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. Is active in cytosol. Is expressed in several structures, including brain. Used to study Lafora disease and lymphoma. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in adrenal adult (RPKM 11.6), heart adult (RPKM 7.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Epm2a in Genome Data Viewer
    Location:
    10 A1; 10 3.66 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (11218435..11335408)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (11342691..11459664)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene F-box protein 30 Neighboring gene predicted gene, 25979 Neighboring gene ribosomal protein L17, pseudogene 11 Neighboring gene STARR-seq mESC enhancer starr_25759 Neighboring gene STARR-seq mESC enhancer starr_25760 Neighboring gene STARR-seq mESC enhancer starr_25761 Neighboring gene predicted gene, 57558 Neighboring gene STARR-seq mESC enhancer starr_25762 Neighboring gene STARR-seq mESC enhancer starr_25763 Neighboring gene translocase of inner mitochondrial membrane 8 homolog a1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables MAP kinase serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    enables calmodulin-dependent protein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables carbohydrate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables carbohydrate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables carbohydrate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carbohydrate phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables carbohydrate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables carbohydrate phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables glycogen binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables glycogen binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone H2AXS140 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables polysaccharide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein tyrosine/serine/threonine phosphatase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables starch binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within L-glutamate transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in carbohydrate phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within glial cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within glycogen biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within glycogen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycogen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glycogen metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within glycogen metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycogen metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycogen metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glycogen metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within habituation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within macromolecule metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of TOR signaling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptidyl-tyrosine dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of macroautophagy IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of macroautophagy ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of glycogen (starch) synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein localization to plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein ubiquitination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasmic side of endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of rough endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic side of rough endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    laforin
    Names
    LAFPTPase
    glucan phosphatase
    lafora PTPase
    NP_034276.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_010146.3NP_034276.2  laforin

      See identical proteins and their annotated locations for NP_034276.2

      Status: VALIDATED

      Source sequence(s)
      AC101984, AC157018
      Consensus CDS
      CCDS23698.1
      UniProtKB/Swiss-Prot
      G5E8E2, Q8BY80, Q9WUA5
      Related
      ENSMUSP00000066050.5, ENSMUST00000069106.5
      Conserved Domains (2) summary
      cd05806
      Location:1128
      CBM20_laforin; Laforin protein tyrosine phosphatase, N-terminal CBM20 (carbohydrate-binding module, family 20) domain. Laforin, encoded by the EPM2A gene, is a dual-specificity phosphatase that dephosphorylates complex carbohydrates. Mutations in the gene encoding ...
      cl21483
      Location:157303
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

    RNA

    1. NR_190354.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC101984, AC157018
    2. NR_190355.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC101984, AC157018

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      11218435..11335408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_003948588.1 RNA Sequence