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EPM2A (EPM2A glucan phosphatase, laforin)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7957
Gene nameGene Name - the full gene name approved by the HGNC.
EPM2A glucan phosphatase, laforin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EPM2A
SynonymsGene synonyms aliases
EPM2, MELF, MELF2
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs104893950 G>A,C Pathogenic Intron variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs137852915 G>A Pathogenic Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant
rs137852916 C>T Pathogenic, uncertain-significance Missense variant, intron variant, coding sequence variant
rs137852917 C>A,T Likely-pathogenic, pathogenic Non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs146321088 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, synonymous variant, intron variant, missense variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT024904 hsa-miR-215-5p Microarray 19074876
MIRT026512 hsa-miR-192-5p Microarray 19074876
MIRT030853 hsa-miR-21-5p Microarray 18591254
MIRT966833 hsa-miR-127-5p CLIP-seq
MIRT966834 hsa-miR-1287 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24837458
GO:0005634 Component Nucleus IEA
GO:0016239 Process Positive regulation of macroautophagy IMP 20453062
GO:0032007 Process Negative regulation of TOR signaling IMP 20453062
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O95278
Protein name Laforin (EC 3.1.3.-) (EC 3.1.3.16) (EC 3.1.3.48) (Glucan phosphatase) (Glycogen phosphatase) (Lafora PTPase) (LAFPTPase)
Protein function Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its inte
PDB 4R30 , 4RKK
UniProt ID B3EWF7
Protein name Laforin, isoform 9
Family and domains
Sequence 
MHPKEGAEQHVFSPVPGAPTPPPNRCGRLVLGPRLPAAGTPGPGIRAAAARHALPLWGGG
ATRRGRRPAGAAGGGVAARAGALGAARCRPPEAGRHRGGRRGPGPAGAGPVARGGGAGGR
GGGAGRGGAGPRGHVLVQVPEAGAGRRALLGRYCQQTPAPGAERELRPAPPTGASASGRP
RRPRRRASRAFCPRPCALPGRPGLTLLCRPRCRRQPRLRLPTDSLDPYSAPGRLPAHSVA
CPSDLVSAHPVLSFFPTAPASRASALRLPPGAPFALRVPLDLRVPPFAGPLAARPRAADG
FNSPTPPWLGFVSSFSCSNSLKKTQNDPTNETSVFANPRQQCAT
Sequence length 344
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Glycogen synthesis
Myoclonic epilepsy of Lafora
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Absence seizure Atypical absence seizure rs137852779, rs137852780
Action myoclonus-renal failure syndrome Action Myoclonus-Renal Failure Syndrome rs727502772, rs727502773, rs121909118, rs121909119, rs727502781, rs727502782, rs200053119, rs886041078, rs886041077, rs886041076, rs886041075, rs995674389, rs1553948516, rs1578733075 25401298
Apraxia Apraxias rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Dentatorubral pallidoluysian atrophy Dentatorubral-Pallidoluysian Atrophy rs60216939 25401298
Unknown
Disease name Disease term dbSNP ID References
Bilateral convulsive seizures Generalized tonic-clonic seizures with focal onset
Brain atrophy Brain atrophy
Cerebral atrophy Cerebral atrophy
Dementia Dementia

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