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

Gene ID: 13853, updated on 28-Dec-2022

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 identical protein binding activity; phosphatase activity; and starch binding activity. Involved in carbohydrate phosphorylation and glycogen metabolic process. Acts upstream of or within several processes, including glycogen biosynthetic process; habituation; and regulation of cellular protein metabolic process. Located in several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. Is expressed in several structures, including brain. Used to study Lafora disease and lymphoma. Human ortholog(s) of this gene implicated in Lafora disease and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in adrenal adult (RPKM 11.6), heart adult (RPKM 7.7) and 24 other tissues See more
Orthologs
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Genomic context

See Epm2a in Genome Data Viewer
Location:
10; 10 A1
Exon count:
5
Annotation release Status Assembly Chr Location
109 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 small nucleolar RNA SNORA48 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

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables carbohydrate binding ISO
Inferred from Sequence Orthology
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 glycogen (starch) synthase activity IEP
Inferred from Expression Pattern
more info
PubMed 
enables hydrolase 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 phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 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
PubMed 
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/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 
acts_upstream_of_or_within carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in carbohydrate phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular macromolecule metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
acts_upstream_of_or_within habituation 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
 
involved_in phosphorylated carbohydrate 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 
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
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
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
 
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 endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in membrane 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
PubMed 
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
 
part_of polysome ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_010146.2NP_034276.2  laforin

    See identical proteins and their annotated locations for NP_034276.2

    Status: VALIDATED

    Source sequence(s)
    AC101984, BY730431, CN532498
    Consensus CDS
    CCDS23698.1
    UniProtKB/Swiss-Prot
    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 ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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