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Tbio
EPM2A
Laforin

Protein Summary
Description
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 interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates (PubMed:16901901, PubMed:23922729, PubMed:26231210, PubMed:25538239, PubMed:25544560). Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). Has been shown to dephosphorylate MAPT (By similarity). Forms a complex with NHLRC1/ ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000367519
  • ENSP00000356489
  • ENSG00000112425
  • ENST00000435470
  • ENSP00000405913
  • ENST00000611340
  • ENSP00000480268
  • ENST00000618445
  • ENSP00000480339
  • ENST00000638262
  • ENSP00000492876
  • ENST00000638778
  • ENSP00000491353
  • ENST00000638783
  • ENSP00000491338
  • ENST00000639423
  • ENSP00000492701
  • ENST00000639465
  • ENSP00000491180

Symbol
  • EPM2
  • MELF
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.99
histone modification site profile
0.88
transcription factor binding site profile
0.75
microRNA
0.73
cellular component
0.69


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 223.14   (req: < 5)
Gene RIFs: 49   (req: <= 3)
Antibodies: 507   (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: 223.14   (req: >= 5)
Gene RIFs: 49   (req: > 3)
Antibodies: 507   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 22
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
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
3
2
3
82.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
3
82.6
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
Protein Structure (2 Structures, 0 AlphaFold Models)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (9)
Disease (R-HSA-1643685)

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

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
Gene Ontology Terms (28)
Items per page:
10
1 – 10 of 10
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Electronic Annotation (IEA)
InterPro
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (83)
1 – 10 of 83
STBD1
Tbio
Novelty: 0.08362185
p_int: 0.999999857
p_ni: 1.2e-8
p_wrong: 1.31e-7
Score: 0.917
Data Source: BioPlex,STRINGDB
PRKAB2
Tchem
Family: Enzyme
Novelty: 0.02815065
p_int: 0.922313627
p_ni: 0.000001019
p_wrong: 0.077685354
Score: 0.844
Data Source: BioPlex,STRINGDB
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: Reactome,STRINGDB
GYS1
Tchem
Family: Enzyme
Novelty: 0.00721964
Score: 0.985
Data Source: Reactome,STRINGDB
GYG1
Tbio
Family: Enzyme
Novelty: 0.01446978
Score: 0.952
Data Source: Reactome,STRINGDB
GYS2
Tbio
Family: Enzyme
Novelty: 0.01522741
Score: 0.943
Data Source: Reactome,STRINGDB
UBB
Tbio
Novelty: 0.00661254
Score: 0.921
Data Source: STRINGDB
GYG2
Tbio
Family: Enzyme
Novelty: 0.01520991
Score: 0.914
Data Source: Reactome,STRINGDB
RPS27A
Tbio
Novelty: 0.00658124
Score: 0.906
Data Source: STRINGDB
Publication Statistics
PubMed Score  223.14

PubMed score by year
PubTator Score  139.88

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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