ATP1A2
Protein ATP1A2 PDB 1q3i.png
Identifiers
AliasesATP1A2, FHM2, MHP2, ATPase Na+/K+ transporting subunit alpha 2, DEE98, FARIMPD
External IDsOMIM: 182340 MGI: 88106 HomoloGene: 47947 GeneCards: ATP1A2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000702

NM_178405

RefSeq (protein)

NP_000693

NP_848492

Location (UCSC)Chr 1: 160.12 – 160.14 MbChr 1: 172.1 – 172.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium/potassium-transporting ATPase subunit alpha-2 is a protein which in humans is encoded by the ATP1A2 gene.[5][6]

Function

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.[6]

Clinical significance

Mutations in ATP1A2 have been found to cause hemiplegic migraine and epilepsy in an autosomal dominant fashion, sometimes co-occurring in families.[7] Additionally, it has been associated with an unusual form of migraine called alternating hemiplegia of childhood.[8][9][10]

References

  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:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "ATP1A2 - Sodium/potassium-transporting ATPase subunit alpha-2 precursor - Homo sapiens (Human) - ATP1A2 gene & protein". www.uniprot.org. Retrieved 9 April 2022.
  6. ^ a b "Entrez Gene: ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide".
  7. ^ Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies" (PDF). Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983. S2CID 208498567.
  8. ^ 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". Developmental Medicine and Child Neurology. 45 (12): 833–6. doi:10.1017/S0012162203001543. PMID 14667076.[dead link]
  9. ^ Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, et al. (June 2004). "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation". Annals of Neurology. 55 (6): 884–7. doi:10.1002/ana.20134. PMID 15174025. S2CID 13430399.
  10. ^ Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, et al. (August 2004). "A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood". Journal of Medical Genetics. 41 (8): 621–8. doi:10.1136/jmg.2003.017863. PMC 1735877. PMID 15286158.

Further reading