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
Disease
Disease Ontology
Displaying entries 31 - 40 of 77 in total
DO ID Disease Name Source
DOID:1059 intellectual disability
DOID:10652 Alzheimer's disease
DOID:11328 schizophreniform disorder
DOID:1206 Rett syndrome
DOID:12139 dysthymic disorder
DOID:1289 neurodegenerative disease
DOID:1307 dementia
DOID:13417 alexia
DOID:1432 blindness
DOID:1443 cerebral degeneration
The Human Phenotype Ontology
Displaying entries 31 - 39 of 39 in total
HPO ID HPO Term
HP:0003678 Rapidly progressive
HP:0007270 Atypical absence seizure
HP:0007334 Bilateral tonic-clonic seizure with focal onset
HP:0007359 Focal-onset seizure
HP:0007537 Severe photosensitivity
HP:0010819 Atonic seizure
HP:0011165 Focal sensory seizure with visual features
HP:0012444 Brain atrophy
HP:0100318 Lafora bodies
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024