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Gene: Epm2a (epilepsy, progressive myoclonic epilepsy, type 2 gene alpha) Mus musculus
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Symbol: Epm2a
Name: epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Description: Exhibits several functions, including glycogen (starch) synthase activity; phosphatase activity; and starch binding activity. Involved in several processes, including glycogen biosynthetic process; regulation of cellular protein localization; and regulation of cellular protein metabolic process. Localizes to several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. Predicted to colocalize with polysome. 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); INTERACTS WITH 1,2-dichloroethane; ethanol; genistein.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: glucan phosphatase; lafora PTPase; laforin; LAFPTPase; Tg(TcraK,TcrbK)TG-BFlv; TG-B
Orthologs:
Homo sapiens (human) : EPM2A (EPM2A glucan phosphatase, laforin)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Epm2a (EPM2A glucan phosphatase, laforin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Epm2a (EPM2A glucan phosphatase, laforin)
Pan paniscus (bonobo/pygmy chimpanzee) : EPM2A (EPM2A glucan phosphatase, laforin)
Canis lupus familiaris (dog) : EPM2A (EPM2A glucan phosphatase, laforin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Epm2a (EPM2A glucan phosphatase, laforin)
Sus scrofa (pig) : EPM2A (EPM2A glucan phosphatase, laforin)
Chlorocebus sabaeus (African green monkey) : EPM2A (EPM2A glucan phosphatase, laforin)
Heterocephalus glaber (naked mole-rat) : Epm2a (EPM2A glucan phosphatase, laforin)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38.p6 Ensembl1011,343,404 - 11,459,644 (+)EnsemblGRCm38mm10GRCm38
GRCm381011,342,691 - 11,459,664 (+)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371011,063,243 - 11,177,275 (+)NCBIGRCm37mm9NCBIm37
MGSCv361011,033,594 - 11,147,912 (+)NCBImm8
Celera1011,232,470 - 11,346,997 (+)NCBICelera
Cytogenetic Map10A1NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
QTLs in Region (GRCm38)
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Epm2a
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731931
Created: 2004-01-12
Species: Mus musculus
Last Modified: 2020-07-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.