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Tbio
B3EWF7
Laforin, isoform 9

Protein Summary
Description
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-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
Uniprot Accession IDs
Gene Name
Symbol
  • EPM2
  • MELF
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0
biological term
0
cell line
0
cell type or tissue
0
cellular component
0


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 284.64   (req: < 5)
Gene RIFs: 49   (req: <= 3)
Antibodies: 0   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 284.64   (req: >= 5)
Gene RIFs: 49   (req: > 3)
Antibodies: 0   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (3)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (83)
NHLRC1
Tbio
Family:  Enzyme
Novelty:  0.00927388
Score:  0.997
Data Source:  STRINGDB
PPP1R3C
Tbio
Family:  Enzyme
Novelty:  0.01784199
Score:  0.989
Data Source:  STRINGDB
GYS1
Tchem
Family:  Enzyme
Novelty:  0.00721964
Score:  0.985
Data Source:  STRINGDB
GYG1
Tbio
Family:  Enzyme
Novelty:  0.01446978
Score:  0.952
Data Source:  STRINGDB
GYS2
Tbio
Family:  Enzyme
Novelty:  0.01522741
Score:  0.943
Data Source:  STRINGDB
UBB
Tbio
Novelty:  0.00661254
Score:  0.921
Data Source:  STRINGDB
STBD1
Tbio
Novelty:  0.08362185
Score:  0.917
Data Source:  STRINGDB
GYG2
Tbio
Family:  Enzyme
Novelty:  0.01520991
Score:  0.914
Data Source:  STRINGDB
RPS27A
Tbio
Novelty:  0.00658124
Score:  0.906
Data Source:  STRINGDB
NFU1
Tbio
Novelty:  0.01465025
Score:  0.905
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (9)
Disease (R-HSA-1643685)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Disease
Reactome
Diseases of carbohydrate metabolism
Reactome
Diseases of metabolism
Reactome
Glycogen metabolism
Reactome
Glycogen storage diseases
Name
Explore in Pharos
Explore in Source
Disease
Diseases of carbohydrate metabolism
Diseases of metabolism
Glycogen metabolism
Glycogen storage diseases
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (3)
Find Similar Targets
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Disease Associations (null)
No disease associations found
GWAS Traits (8)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
educational attainment
1
4
4
78.4
mean platelet volume
3
2
3
76.4
substance abuse
1
2
2
58
antisocial behaviour measurement
1
2
2
58
1
2
2
58
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
educational attainment
4
78.4
mean platelet volume
3
76.4
substance abuse
2
58
antisocial behaviour measurement
2
58
2
58
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
EPM2A, laforin glucan phosphatase
VGNC:14789
748434
Mouse
MGI:1341085
13853
Rat
RGD:71047
114005
Dog
EPM2A, laforin glucan phosphatase
VGNC:53700
484022
Cow
EPM2A, laforin glucan phosphatase
VGNC:53790
526888
Species
Name
OMA
EggNOG
Inparanoid
Chimp
EPM2A, laforin glucan phosphatase
Mouse
Rat
Dog
EPM2A, laforin glucan phosphatase
Cow
EPM2A, laforin glucan phosphatase
Publication Statistics
PubMed Score 284.64
PubMed score by year
PubTator Score 139.88
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title