Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7957
MIM: 607566
HGNC: 3413
Ensembl: ENSG00000112425
Variants:
dbSNP: 7957
ClinVar: 7957
TCGA: ENSG00000112425
COSMIC: EPM2A
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | 27092952 | |
| PA448964 | chlorpromazine | Chemical | ClinicalAnnotation | associated | PD | 27092952 | |
| PA449061 | clozapine | Chemical | ClinicalAnnotation | associated | PD | 27092952 | |
| PA449841 | haloperidol | Chemical | ClinicalAnnotation | associated | PD | 27092952 | |
| PA450688 | olanzapine | Chemical | ClinicalAnnotation | associated | PD | 27092952 | |
| PA451201 | quetiapine | Chemical | ClinicalAnnotation | associated | PD | 27092952 | |
| PA451257 | risperidone | Chemical | ClinicalAnnotation | associated | PD | 27092952 | |
| PA451771 | trifluoperazine | Chemical | ClinicalAnnotation | associated | PD | 27092952 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34147889 | 2021 | EPM2A in-frame deletion slows neurological decline in Lafora Disease. | 2 |
| 34147889 | 2021 | EPM2A in-frame deletion slows neurological decline in Lafora Disease. | 2 |
| 31758957 | 2020 | Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. | 15 |
| 31758957 | 2020 | Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. | 15 |
| 26578817 | 2016 | Biophysical characterization of laforin-carbohydrate interaction. | 5 |
| 27092952 | 2016 | PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study. | 4 |
| 26578817 | 2016 | Biophysical characterization of laforin-carbohydrate interaction. | 5 |
| 27092952 | 2016 | PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study. | 4 |
| 25538239 | 2015 | Dimeric quaternary structure of human laforin. | 7 |
| 25544560 | 2015 | Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. | 32 |
| 26102034 | 2015 | Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway. | 4 |
| 26216881 | 2015 | Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice. | 18 |
| 26648032 | 2015 | Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. | 3 |
| 25538239 | 2015 | Dimeric quaternary structure of human laforin. | 7 |
| 25544560 | 2015 | Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. | 32 |
Citation
Dessen P
EPM2A (EPM2A glucan phosphatase, laforin)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43825/epm2a
