Version: 8.0.0Date: Tue Jan 28 2025
Gene
Epm2a
- Species
- Rattus norvegicus
- Symbol
- Epm2a
- Name
- EPM2A glucan phosphatase, laforin
- Synonyms
- epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
- epilepsy, progressive myoclonus type 2A
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable several functions, including alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity; phosphatase activity; and polysaccharide binding activity. Predicted to be involved in several processes, including carbohydrate phosphorylation; negative regulation of phosphatase activity; and peptidyl-tyrosine dephosphorylation. Predicted to act upstream of or within several processes, including glycogen biosynthetic process; regulation of protein localization; and regulation of protein metabolic process. Predicted to be located in several cellular components, including cytoplasmic side of rough endoplasmic reticulum membrane; dendrite; and perikaryon. Predicted to be active in cytosol and nucleus. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin).
- RGD Description
- Predicted to enable several functions, including alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity; phosphatase activity; and polysaccharide binding activity. Predicted to be involved in several processes, including carbohydrate phosphorylation; negative regulation of phosphatase activity; and peptidyl-tyrosine dephosphorylation. Predicted to act upstream of or within several processes, including glycogen biosynthetic process; regulation of protein localization; and regulation of protein metabolic process. Predicted to be located in several cellular components, including cytoplasmic side of rough endoplasmic reticulum membrane; dendrite; and perikaryon. Predicted to be active in cytosol and nucleus. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin); INTERACTS WITH 1,2-dimethylhydrazine; aconitine; acrylamide.
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46864
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
- None
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr1:5727066...5920555 + (193.49 kb)
- Assembly version
- mRatBN7.2
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.