Epm2a - epilepsy, progressive myoclonic epilepsy, type 2 gene alpha Gene

Also Known as TG-B; Tg(TcraK,TcrbK)TG-BFlv

Species: Mus musculus

Gene Type: protein coding
Gene ID: 13853

Summary

Enables identical protein binding activity; Phosphatase activity; and starch binding activity. Involved in carbohydrate phosphorylation and glycogen metabolic process. Acts upstream of or within several processes, including glycogen biosynthetic process; habituation; and regulation of cellular protein metabolic process. Located in several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. 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). [provided by Alliance of Genome Resources, Apr 2022]

Epm2a Products (1)

mRNA Protein Name
NM_010146.2 NP_034276.2 laforin

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity IEP
IEP: Inferred from expression pattern
18852261 MGI
enables carbohydrate phosphatase activity IDA
IDA: Inferred from direct assay
18040046 MGI
enables carbohydrate phosphatase activity IMP
IMP: Inferred from mutant phenotype
18040046 MGI
enables identical protein binding IPI
IPI: Inferred from physical interaction
16971387 MGI
enables phosphatase activity IDA
IDA: Inferred from direct assay
24430976 MGI
enables phosphoprotein phosphatase activity IDA
IDA: Inferred from direct assay
16971387 MGI
enables polysaccharide binding IDA
IDA: Inferred from direct assay
15102711 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
16959610 MGI
enables protein serine/threonine phosphatase activity IDA
IDA: Inferred from direct assay
16971387 MGI
enables protein tyrosine phosphatase activity IDA
IDA: Inferred from direct assay
15541350 MGI
enables starch binding IDA
IDA: Inferred from direct assay
15102711 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within L-glutamate transmembrane transport IMP
IMP: Inferred from mutant phenotype
26976331 MGI
acts upstream of or within Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
16971387 MGI
acts upstream of or within autophagosome assembly IMP
IMP: Inferred from mutant phenotype
24430976 MGI
acts upstream of or within autophagy IMP
IMP: Inferred from mutant phenotype
24914213 MGI
acts upstream of or within calcium ion transport IMP
IMP: Inferred from mutant phenotype
28063983 MGI
involved in carbohydrate phosphorylation IMP
IMP: Inferred from mutant phenotype
18852261 MGI
acts upstream of or within glial cell proliferation IGI
IGI: Inferred from genetic interaction
28973665 MGI
involved in glycogen biosynthetic process IDA
IDA: Inferred from direct assay
18040046 MGI
acts upstream of or within glycogen biosynthetic process IGI
IGI: Inferred from genetic interaction
28536304 MGI
acts upstream of or within glycogen biosynthetic process IMP
IMP: Inferred from mutant phenotype
28536304 MGI
involved in glycogen biosynthetic process IMP
IMP: Inferred from mutant phenotype
17118331 MGI
acts upstream of or within glycogen metabolic process IGI
IGI: Inferred from genetic interaction
21552327 MGI
acts upstream of or within glycogen metabolic process IMP
IMP: Inferred from mutant phenotype
23663739 MGI
involved in glycogen metabolic process IMP
IMP: Inferred from mutant phenotype
18852261 MGI
acts upstream of or within habituation IMP
IMP: Inferred from mutant phenotype
12019206 MGI
acts upstream of or within macromolecule metabolic process IMP
IMP: Inferred from mutant phenotype
23663739 MGI
acts upstream of or within mitochondrion organization IMP
IMP: Inferred from mutant phenotype
28063983 MGI
acts upstream of or within negative regulation of cell cycle IMP
IMP: Inferred from mutant phenotype
18824542 MGI
acts upstream of or within negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
18824542 MGI
acts upstream of or within negative regulation of peptidyl-serine phosphorylation IMP
IMP: Inferred from mutant phenotype
18824542 MGI
acts upstream of or within nervous system development IMP
IMP: Inferred from mutant phenotype
12019206 MGI
acts upstream of or within positive regulation of macroautophagy IGI
IGI: Inferred from genetic interaction
20453062 MGI
acts upstream of or within positive regulation of macroautophagy IMP
IMP: Inferred from mutant phenotype
20453062 MGI
acts upstream of or within proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
24914213 MGI
acts upstream of or within regulation of cell growth IMP
IMP: Inferred from mutant phenotype
18824542 MGI
acts upstream of or within regulation of gene expression IMP
IMP: Inferred from mutant phenotype
24914213 MGI
acts upstream of or within regulation of glycogen (starch) synthase activity IMP
IMP: Inferred from mutant phenotype
18040046 MGI
acts upstream of or within regulation of phosphorylation IMP
IMP: Inferred from mutant phenotype
18040046 MGI
acts upstream of or within regulation of proteasomal protein catabolic process IMP
IMP: Inferred from mutant phenotype
27107699 MGI
acts upstream of or within regulation of protein import into nucleus IDA
IDA: Inferred from direct assay
16971387 MGI
acts upstream of or within regulation of protein kinase activity IMP
IMP: Inferred from mutant phenotype
24914213 MGI
acts upstream of or within regulation of protein localization to plasma membrane IGI
IGI: Inferred from genetic interaction
26976331 MGI
acts upstream of or within regulation of protein phosphorylation IMP
IMP: Inferred from mutant phenotype
18824542 MGI
acts upstream of or within regulation of protein ubiquitination IGI
IGI: Inferred from genetic interaction
26976331 MGI
acts upstream of or within regulation of ubiquitin protein ligase activity IMP
IMP: Inferred from mutant phenotype
28063983 MGI
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
17908927 MGI
located in cytoplasmic side of endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
15102711 MGI
is active in cytosol IMP
IMP: Inferred from mutant phenotype
22669944 MGI
located in dendrite IDA
IDA: Inferred from direct assay
15102711 MGI
located in nucleus IDA
IDA: Inferred from direct assay
17908927 MGI
located in perikaryon IDA
IDA: Inferred from direct assay
15102711 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

laforin

  • LAFPTPase

  • glucan phosphatase

  • lafora PTPase

Epm2a Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
Epm2a Q9WUA5 NHLRC1 Homo sapiens Q6VVB1
Anti Tag CoIP
22578008
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04441 EPM2A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS09286 NHLRC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Epm2a NCBI NCBI:7957