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
341478892021EPM2A in-frame deletion slows neurological decline in Lafora Disease.2
341478892021EPM2A in-frame deletion slows neurological decline in Lafora Disease.2
317589572020Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.15
317589572020Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.15
265788172016Biophysical characterization of laforin-carbohydrate interaction.5
270929522016PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study.4
265788172016Biophysical characterization of laforin-carbohydrate interaction.5
270929522016PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study.4
255382392015Dimeric quaternary structure of human laforin.7
255445602015Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.32
261020342015Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.4
262168812015Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice.18
266480322015Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.3
255382392015Dimeric quaternary structure of human laforin.7
255445602015Structural 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/img/favicon/gene-fusions-explorer/