ATPase Na+/K+ transporting subunit alpha 2

Summary
Gene Symbol
  • ATP1A2
Organism
Homo sapiens (human)
External Links
NCBI Gene
477
PubChem
477
Alliance of Genome Resources
Annotation
Keyword
  • ATP-binding
  • Cell membrane
  • Disease variant
  • Epilepsy
  • Intellectual disability
  • Magnesium
  • Metal-binding
  • Phosphoprotein
  • Potassium transport
  • Reference proteome
  • Sodium transport
  • Sodium/potassium transport
  • Translocase
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
P50993
  • Sodium pump subunit alpha-2
A0A0S2Z3W6
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 15 in total
GO Term Evidence Code PMID
endosome
endoplasmic reticulum
cytoplasm
T-tubule
neuronal cell body
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying entries 1 - 10 of 11 in total
DO ID Disease Name Source
DOID:0050635 alternating hemiplegia of childhood
DOID:0060178 familial hemiplegic migraine
DOID:0070384 developmental and epileptic encephalopathy 98
DOID:0111182 familial hemiplegic migraine 2
DOID:10024 migraine with aura
DOID:10763 hypertension
DOID:14264 benign neonatal seizures
DOID:1574 alcohol use disorder
DOID:1826 epilepsy
DOID:863 nervous system disease

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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