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 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
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