Epm2a Gene Summary [Mouse]
Enables several functions, including alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) 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 progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Epm2a |
| Official Name | epilepsy, progressive myoclonic epilepsy, type 2 gene alpha [Source:MGI Symbol;Acc:MGI:1341085] |
| Ensembl ID | ENSMUSG00000055493 |
| Bio databases IDs | |
| Aliases | epilepsy, progressive myoclonic epilepsy, type 2 gene alpha |
| Synonyms | epilepsy, progressive myoclonic epilepsy, type 2 gene alpha, epilepsy, progressive myoclonic epilepsy, type 2 gene α, EPM2, EPM2A glucan phosphatase, laforin, Laforin, LOC684363, MELF, MELF2, TG-B, Tg(TcraK,TcrbK)TG-BFlv |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Epm2a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- protein tyrosine/serine/threonine phosphatase
- protein-tyrosine-phoshatase
- phosphoprotein phosphatase
- protein serine/threonine phosphatase
- carbohydrate recognition domain
- PTP_DSP_cys
- protein binding
- identical protein binding
- Dual specificity phosphatase, catalytic domain
- CBM20
- dual specificity phosphatase domain
- protein phosphatase
- phosphatase
- protein homodimerization
- dual-specificity protein phosphatase motif
- glycogen(starch) synthase
- polysaccharide binding
- carbohydrate binding
- carbohydrate phosphatase
Pathways
Biological processes and signaling networks where the Epm2a gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatic steatosis
- weight gain
- hypoglycemia
- progressive myoclonic epilepsy
- myoclonic epilepsy of Lafora type 1
- LaFora epilepsy
- ataxia
- hereditary disorder
- hyperphagia
- astrocytosis
role in cell
- cell death
- phosphorylation in
- formation
- apoptosis
- proliferation
- growth
- degradation in
- accumulation in
- organization
- degranulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Endoplasmic Reticulum
- cytosol
- nucleoplasm
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Epm2a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of macroautophagy
- regulation of protein import into nucleus
- habituation
- regulation of proteasomal protein catabolic process
- protein dephosphorylation
- negative regulation of cell cycle
- carbohydrate phosphorylation
- mitochondrion organization
- autophagic vacuole assembly
- negative regulation of gene expression
- proteasomal ubiquitin-dependent protein catabolic process
- glycogen biosynthetic process
- glycogen metabolic process
- regulation of cell growth
- calcium ion transport
- negative regulation of peptidyl-serine phosphorylation
- Wnt receptor signaling pathway
- regulation of protein ubiquitination
- L-glutamate transport
- glial cell proliferation
- negative regulation of TOR signaling cascade
- peptidyl-tyrosine dephosphorylation
Cellular Component
Where in the cell the gene product is active
- dendrite
- nucleus
- cytoplasm
- cytosol
- perikaryon
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein serine/threonine phosphatase activity
- protein binding
- protein homodimerization activity
- starch binding
- protein tyrosine phosphatase activity
- glycogen (starch) synthase activity
- carbohydrate phosphatase activity
- carbohydrate binding
- glycogen binding
- myosin phosphatase activity