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 have protein tyrosine phosphatase activity. Predicted to be involved in protein dephosphorylation. Predicted to localize to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Lafora disease and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin).
- Genome Resources
- Note
- None
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- No data available
- Thisse Expression Data
-
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Lafora disease | Alliance | Epilepsy, progressive myoclonic 2A (Lafora) | 254780 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR016130 | Protein-tyrosine phosphatase, active site |
| 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 |
| 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 | Length | Carbohydrate-binding-like fold | Carbohydrate binding module family 20 | Dual specificity protein phosphatase domain | Immunoglobulin-like fold | Laforin | Laforin, CBM20 domain | Protein-tyrosine phosphatase, active site | Protein-tyrosine phosphatase-like | Tyrosine specific protein phosphatases domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E9QCC5
|
310 |
Interactions and Pathways
No data available
Plasmids
No data available
- Gene Tree
- Ensembl