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Epm2a
Gene Detail
 Symbol
Name
ID
Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
MGI:1341085
Synonyms laforin, TG-B, Tg(TcraK,TcrbK)TG-BFlv
Feature Type protein coding gene
Genetic Map
Chromosome 10
3.66 cM, cytoband A
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr10:11343404-11459644 bp, + strand
From VEGA annotation of GRCm38

  116241 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:38087  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Epm2a

Human
homologs
Human Homolog EPM2A, epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
NCBI Gene ID 7957
neXtProt AC  NX_O95278
Human Synonyms  EPM2, MELF
Human Chr (Location)  6q24; chr6:145625304-145737216 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human EPM2A
Alleles
and
phenotypes
All alleles(8) : Gene trapped(4) Targeted(3) Transgenic(1)
Incidental mutations (data from APF )
 
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.
 
Human Diseases Modeled Using Mouse Epm2a (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (55 annotations)
Process autophagy, carbohydrate metabolic process, ...
Component cytoplasm, cytosol, ...
Function 5-amino-6-(5-phosphoribitylamino)uracil phosphatase activity, carbohydrate binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (19)    Tissues (14)   
Theiler Stages: 10, 18, 23, 25, 28
Assay TypeResults
RNA in situ 9
Northern blot 10
cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(9) Genomic(1) cDNA(7) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000031733 (Evidence)
Ensembl Gene ModelENSMUSG00000055493 (Evidence)
Entrez Gene13853 (Evidence)
DFCITC1592280, TC1607411, TC1686641
DoTSDT.60102951, DT.91330379, DT.94122787
NIA Mouse Gene IndexU011263, U293292
EC3.1.3.-, 3.1.3.16, 3.1.3.48
Consensus CDS ProjectCCDS23698.1
International Mouse Knockout Project StatusEpm2a
Sequences
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 sequences
All sequences(30) RefSeq(4) UniProt(1)
Polymorphisms SNPs within 2kb(584 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013784 Carbohydrate-binding-like fold
InterPro IPR002044 Carbohydrate binding module family 20
InterPro IPR024950 Dual specificity phosphatase
InterPro IPR000340 Dual specificity phosphatase, catalytic domain
InterPro IPR020422 Dual specificity phosphatase, subgroup, catalytic domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR000387 Protein-tyrosine/Dual specificity phosphatase
InterPro IPR016130 Protein-tyrosine phosphatase, active site
Protein Ontology PR:000007136 laforin
References (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:205691 Dervovic DD, et al., Cellular and molecular requirements for the selection of in vitro-generated CD8 T cells reveal a role for Notch. J Immunol. 2013 Aug 15;191(4):1704-15
All references(58)
Other
accession IDs
MGI:3764831

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
07/15/2014
MGI 5.18
The Jackson Laboratory