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)
Displaying entry 26 - 26 of 26 in total
GO Term Evidence Code PMID
carbohydrate phosphorylation
GO Hierarchy
Disease
Disease Ontology
Displaying entries 21 - 30 of 77 in total
DO ID Disease Name Source
DOID:0110731 neuronal ceroid lipofuscinosis 3
DOID:0110732 neuronal ceroid lipofuscinosis 11
DOID:0110733 neuronal ceroid lipofuscinosis 9
DOID:0111040 glycogen storage disease IXd
DOID:0111041 glycogen storage disease IXb
DOID:0111042 glycogen storage disease IXa
DOID:0111043 glycogen storage disease IXc
DOID:0111444 progressive myoclonus epilepsy 4
DOID:0111452 progressive myoclonus epilepsy 1A
DOID:10588 adrenoleukodystrophy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 39 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000572 Visual loss
HP:0000709 Psychosis
HP:0000712 Emotional lability
HP:0000716 Depression
HP:0000726 Dementia
HP:0000992 Cutaneous photosensitivity
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001257 Spasticity
Displaying all 2 entries
Disease ID Disease Name
ORPHA:501
  • Lafora disease
OMIM:254780
  • myoclonic epilepsy of Lafora 1
Ortholog
Displaying entries 61 - 63 of 63 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
109080985 CYPCA115813
116440858 CORMO18012
115613561 STRHB13439

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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