Gene

ATP1A2

Species
Homo sapiens
Symbol
ATP1A2
Name
ATPase Na+/K+ transporting subunit alpha 2
Synonyms
  • ATPase Na+/K+ transporting alpha 2 polypeptide
  • ATPase, Na+/K+ transporting, alpha 2 polypeptide
Biotype
protein coding gene
Automated Description
Enables several functions, including ATP binding activity; ATP hydrolysis activity; and alkali metal ion binding activity. Involved in several processes, including ATP metabolic process; intracellular monoatomic cation homeostasis; and monoatomic cation transmembrane transport. Located in T-tubule; cytoplasm; and organelle membrane. Part of sodium:potassium-exchanging ATPase complex. Implicated in alternating hemiplegia of childhood; electroclinical syndrome (multiple); hypertension; and migraine with aura (multiple).
RGD Description
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR43294
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Paralogy

Function - GO Annotations

Pathways

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Phenotypes

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    Disease Associations

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    Alleles and Variants

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      Transgenic Alleles

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      (carrying the transgene)
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

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          None
          Other Sources
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          Molecular Interactions

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            Genetic Interactions

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