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Epm2a Gene Detail
Summary
  • Symbol
    Epm2a
  • Name
    epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
  • Synonyms
    laforin, TG-B, Tg(TcraK,TcrbK)TG-BFlv
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341085
    NCBI Gene: 13853
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:11343404-11459644 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      116241 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 3.66 cM, cytoband A
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    EPM2A, EPM2A, laforin glucan phosphatase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EPM2A, EPM2A, laforin glucan phosphatase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EPM2, MELF
  • Links
    NCBI Gene ID: 7957
    neXtProt AC: NX_O95278
    UniProt: B3EWF7, O95278

  • Chr Location
    6q24.3; chr6:145500744-145736018 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 38087
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EPM2A
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Epm2a mouse models; 1 with human EPM2A associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 2 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a targeted null mutation exhibit behavioral deficits, ataxia, myoclonus epilepsy, and widespread degeneration of neurons in the presence of only a few small Lafora inclusions, providing a putative mouse model of human Lafora disease.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031733 VEGA Gene Model | MGI Sequence Detail 116241 C57BL/6J ±  kb
    transcript OTTMUST00000078597 VEGA | MGI Sequence Detail 3287 Not Applicable  
    polypeptide OTTMUSP00000041817 VEGA | MGI Sequence Detail 330 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      578 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      Genomic 1
      cDNA 7

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3764831
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 12
      Phenotypes 38
    • Earliest
      J:107545 Geiger T, et al., T-cell responsiveness to an oncogenic peripheral protein and spontaneous autoimmunity in transgenic mice. Proc Natl Acad Sci U S A. 1992 Apr 1;89(7):2985-9
    • Latest
      J:259757 Upadhyay M, et al., Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models. Neurobiol Dis. 2017 Apr;100(None):39-51

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory