EPM2A glucan phosphatase, laforin

Summary
Gene Symbol
  • EPM2A
Aliases
  • LD
  • LDE
Organism
Homo sapiens (human)
External Links
NCBI Gene
7957
HGNC
3413
PubChem
7957
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative initiation
  • Alternative splicing
  • Autophagy
  • Cell membrane
  • Cytoplasm
  • Disease variant
  • Endoplasmic reticulum
  • Epilepsy
  • Glycogen metabolism
  • Glycogen storage disease
  • Neurodegeneration
  • Nucleus
  • Phosphoprotein
  • Protein phosphatase
  • Reference proteome
  • Ubl conjugation
Proteins
Displaying 1 entry
UniProt Protein Name
O95278
  • Glucan phosphatase
  • Glycogen phosphatase
  • Lafora PTPase
Gene Ontology (GO)
GO Hierarchy
Displaying entries 11 - 13 of 13 in total
GO Term Evidence Code PMID
protein binding
protein dimerization activity
glycogen binding
Disease
Disease Ontology
Displaying entries 1 - 10 of 77 in total
DO ID Disease Name Source
DOID:0050776 non-syndromic X-linked intellectual disability
DOID:0050841 focal hand dystonia
DOID:0060058 lymphoma
DOID:0060135 apraxia
DOID:0060162 dentatorubral-pallidoluysian atrophy
DOID:0060171 obsolete Dravet syndrome
DOID:0060215 Balo concentric sclerosis
DOID:0060281 photosensitive epilepsy
DOID:0080422 Dravet syndrome
DOID:0110720 neuronal ceroid lipofuscinosis 4
The Human Phenotype Ontology
Displaying entries 11 - 20 of 39 in total
HPO ID HPO Term
HP:0001260 Dysarthria
HP:0001268 Mental deterioration
HP:0001288 Gait disturbance
HP:0001289 Confusion
HP:0001312 Giant somatosensory evoked potentials
HP:0001336 Myoclonus
HP:0001399 Hepatic failure
HP:0002069 Bilateral tonic-clonic seizure
HP:0002100 Recurrent aspiration pneumonia
HP:0002121 Generalized non-motor (absence) seizure
Displaying all 2 entries
Disease ID Disease Name
ORPHA:501
  • Lafora disease
OMIM:254780
  • myoclonic epilepsy of Lafora 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024