EPM2A (EPM2A glucan phosphatase, laforin)

2007-02-01  

Identity

HGNC
LOCATION
6q24.3
LOCUSID
ALIAS
EPM2,MELF
FUSION GENES

Other Information

Locus ID:

NCBI: 7957
MIM: 607566
HGNC: 3413
Ensembl: ENSG00000112425

Variants:

dbSNP: 7957
ClinVar: 7957
TCGA: ENSG00000112425
COSMIC: EPM2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112425ENST00000367519O95278
ENSG00000112425ENST00000435470O95278
ENSG00000112425ENST00000450221H0Y7S8
ENSG00000112425ENST00000611340O95278
ENSG00000112425ENST00000611340H0UI04
ENSG00000112425ENST00000618445O95278
ENSG00000112425ENST00000638262O95278
ENSG00000112425ENST00000638554A0A1W2PRS5
ENSG00000112425ENST00000638717A0A1W2PPT8
ENSG00000112425ENST00000638778O95278
ENSG00000112425ENST00000638778H0UI04
ENSG00000112425ENST00000638783O95278
ENSG00000112425ENST00000638783H0UI04
ENSG00000112425ENST00000639049A0A1W2PQ84
ENSG00000112425ENST00000639423O95278
ENSG00000112425ENST00000639423H0UI04
ENSG00000112425ENST00000639465O95278
ENSG00000112425ENST00000639465H0UI04
ENSG00000112425ENST00000639849A0A1W2PRC9
ENSG00000112425ENST00000640225A0A1W2PRC9
ENSG00000112425ENST00000640351A0A1W2PP62
ENSG00000112425ENST00000640980A0A1W2PPJ6
ENSG00000112425ENST00000650914O95278
ENSG00000112425ENST00000650914H0UI04

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Diseases of carbohydrate metabolismREACTOMER-HSA-5663084
Glycogen storage diseasesREACTOMER-HSA-3229121
Myoclonic epilepsy of LaforaREACTOMER-HSA-3785653
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen synthesisREACTOMER-HSA-3322077

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD27092952
PA448964chlorpromazineChemicalClinicalAnnotationassociatedPD27092952
PA449061clozapineChemicalClinicalAnnotationassociatedPD27092952
PA449841haloperidolChemicalClinicalAnnotationassociatedPD27092952
PA450688olanzapineChemicalClinicalAnnotationassociatedPD27092952
PA451201quetiapineChemicalClinicalAnnotationassociatedPD27092952
PA451257risperidoneChemicalClinicalAnnotationassociatedPD27092952
PA451771trifluoperazineChemicalClinicalAnnotationassociatedPD27092952

References

Pubmed IDYearTitleCitations
169019012006Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates.87
204530622010Laforin, the most common protein mutated in Lafora disease, regulates autophagy.70
180708752008Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).63
176464012007The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease.59
180293862008Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.56
161158202005Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.50
190367382009The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system.34
195297792009Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin.30
169596102006Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling.26
191719322009AMP-activated protein kinase phosphorylates R5/PTG, the glycogen targeting subunit of the R5/PTG-protein phosphatase 1 holoenzyme, and accelerates its down-regulation by the laforin-malin complex.25

Citation

Dessen P

EPM2A (EPM2A glucan phosphatase, laforin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43825/epm2a