ATP1A2

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

ATP1A2
Identifiers
AliasesATP1A2, FHM2, MHP2, ATPase Na+/K+ transporting subunit alpha 2
External IDsOMIM: 182340 MGI: 88106 HomoloGene: 47947 GeneCards: ATP1A2
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q23.2Start160,115,759 bp[1]
End160,143,591 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

477

98660

Ensembl

ENSG00000018625

ENSMUSG00000007097

UniProt

P50993

Q6PIE5

RefSeq (mRNA)

NM_000702

NM_178405

RefSeq (protein)

NP_000693

NP_848492

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

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.[5]

Clinical significance

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

References

  1. GRCh38: Ensembl release 89: ENSG00000018625 - Ensembl, May 2017
  2. 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. "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.
  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


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