Gene Ontology Classifications

Symbol
Name
ID

Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
MGI:1341085

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Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables several functions, including glycogen (starch) synthase 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 Lafora disease and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin).

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Aspect

Category

Evidence

Gene Ontology Evidence Code Abbreviations:

Experimental:

EXP: Inferred from experiment
HMP: Inferred from high throughput mutant phenotype
HGI: Inferred from high throughput genetic interaction
HDA: Inferred from high throughput direct assay
HEP: Inferred from high throughput expression pattern
IDA: Inferred from direct assay
IEP: Inferred from expression pattern
IGI: Inferred from genetic interaction
IMP: Inferred from mutant phenotype
IPI: Inferred from physical interaction

Homology:

IAS: Inferred from ancestral sequence
IBA: Inferred from biological aspect of ancestor
IBD: Inferred from biological aspect of descendant
IKR: Inferred from key residues
IMR: Inferred from missing residues
IRD: Inferred from rapid divergence
ISA: Inferred from sequence alignment
ISM: Inferred from sequence model
ISO: Inferred from sequence orthology
ISS: Inferred from sequence or structural similarity

Automated:

IEA: Inferred from electronic annotation
RCA: Reviewed computational analysis

Other:

IC: Inferred by curator
NAS: Non-traceable author statement
ND: No biological data available
TAS: Traceable author statement

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Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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