Gene
epm2a
- ID
- ZDB-GENE-100922-143
- Name
- EPM2A glucan phosphatase, laforin
- Symbol
- epm2a Nomenclature History
- Previous Names
-
- si:ch1073-93e12.2
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable protein tyrosine phosphatase activity. Acts upstream of or within neuroinflammatory response; regulation of autophagy; and regulation of glycogen metabolic process. Predicted to be located in cytoplasmic side of endoplasmic reticulum membrane; cytosol; and plasma membrane. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Della Vecchia et al., 2025
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Lafora disease | Alliance | Myoclonic epilepsy of Lafora 1 | 254780 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Lafora disease | epm2azf3794/zf3794 (AB) | standard conditions | Della Vecchia et al., 2025 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR016130 | Protein-tyrosine phosphatase, active site |
| Domain | IPR000340 | Dual specificity phosphatase, catalytic domain |
| Domain | IPR000387 | Tyrosine-specific protein phosphatases domain |
| Domain | IPR002044 | Carbohydrate binding module family 20 |
| Domain | IPR020422 | Dual specificity protein phosphatase domain |
| Domain | IPR034831 | Laforin, CBM20 domain |
| Domain | IPR045204 | Laforin-like, dual specificity phosphatase domain |
| Family | IPR042942 | Laforin |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR013784 | Carbohydrate-binding-like fold |
| Homologous_superfamily | IPR029021 | Protein-tyrosine phosphatase-like |
Domain Details Per Protein
| Protein | Additional Resources | Length | Carbohydrate-binding-like fold | Carbohydrate binding module family 20 | Dual specificity phosphatase, catalytic domain | Dual specificity protein phosphatase domain | Immunoglobulin-like fold | Laforin | Laforin, CBM20 domain | Laforin-like, dual specificity phosphatase domain | Protein-tyrosine phosphatase, active site | Protein-tyrosine phosphatase-like | Tyrosine-specific protein phosphatases domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BHX0 | InterPro | 322 |
Interactions and Pathways
No data available
Plasmids
No data available