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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With epm2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Lafora disease Alliance Epilepsy, progressive myoclonic 2A (Lafora) 254780
Associated With epm2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations