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Protein ATP1A2 PDB 1q3i.png
AliasesATP1A2, FHM2, MHP2, ATPase Na+/K+ transporting subunit alpha 2
External IDsMGI: 88106 HomoloGene: 47947 GeneCards: ATP1A2
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for ATP1A2
Genomic location for ATP1A2
Band1q23.2Start160,115,759 bp[1]
End160,143,591 bp[1]
RNA expression pattern
PBB GE ATP1A2 203295 s at fs.png

PBB GE ATP1A2 203296 s at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 1: 160.12 – 160.14 MbChr 1: 172.27 – 172.3 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide, also known as ATP1A2, is a protein which in humans is encoded by the ATP1A2 gene.[5]


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.[5]

Clinical significance[edit]

Mutations in the ATP1A2 gene has been implicated in the familial form of alternating hemiplegia of childhood.[6][7][8]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000018625 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007097 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide".
  6. ^ Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S (December 2003). "Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait". Dev Med Child Neurol. 45 (12): 833–6. doi:10.1017/S0012162203001543. PMID 14667076.[dead link]
  7. ^ Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S (June 2004). "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation". Ann. Neurol. 55 (6): 884–7. doi:10.1002/ana.20134. PMID 15174025.
  8. ^ Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G (August 2004). "A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood". J. Med. Genet. 41 (8): 621–8. doi:10.1136/jmg.2003.017863. PMC 1735877. PMID 15286158.

Further reading[edit]

External links[edit]