ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 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 |
| Lafora disease 1 | 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 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers