ATP1A2

ATP1A2
Identifiers
Aliases	ATP1A2, FHM2, MHP2, ATPase Na+/K+ transporting subunit alpha 2
External IDs	OMIM: 182340 MGI: 88106 HomoloGene: 47947 GeneCards: ATP1A2
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	160,143,591 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	172,298,064 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• steroid hormone binding; • nucleotide binding; • chaperone binding; • potassium ion binding; • sodium ion binding; • sodium:potassium-exchanging ATPase activity; • metal ion binding; • cation-transporting ATPase activity; • ATPase activity; • GO:0001948 protein binding; • drug binding; • hydrolase activity; • ATP binding; • potassium-transporting ATPase activity;
Cellular component	• cytoplasm; • extracellular vesicle; • integral component of membrane; • endosome; • membrane; • intercalated disc; • T-tubule; • myelin; • cell membrane; • dendritic spine; • synapse; • sodium:potassium-exchanging ATPase complex; • caveola; • neuron projection; • sarcolemma;
Biological process	• visual learning; • cellular response to steroid hormone stimulus; • regulation of muscle contraction; • regulation of cardiac conduction; • cardiac muscle contraction; • regulation of smooth muscle contraction; • sodium ion transport; • regulation of the force of heart contraction; • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; • negative regulation of heart contraction; • cellular sodium ion homeostasis; • adult locomotory behavior; • sodium ion export from cell; • negative regulation of striated muscle contraction; • cell communication by electrical coupling involved in cardiac conduction; • response to nicotine; • response to glycoside; • ion transport; • cellular potassium ion homeostasis; • regulation of blood pressure; • regulation of respiratory gaseous exchange by neurological system process; • potassium ion transport; • regulation of cardiac muscle cell contraction; • ion transmembrane transport; • ATP metabolic process; • cellular response to mechanical stimulus; • regulation of striated muscle contraction; • membrane repolarization; • negative regulation of calcium ion transmembrane transport; • regulation of vasoconstriction; • neurotransmitter uptake; • negative regulation of calcium:sodium antiporter activity; • locomotion; • regulation of glutamate uptake involved in transmission of nerve impulse; • regulation of synaptic transmission, glutamatergic; • relaxation of cardiac muscle; • membrane depolarization during cardiac muscle cell action potential; • negative regulation of cytosolic calcium ion concentration; • potassium ion import across plasma membrane; • establishment or maintenance of transmembrane electrochemical gradient; • transport;
	Sources:Amigo / QuickGO
Orthologs
	477
	98660
	ENSG00000018625
	ENSMUSG00000007097
	P50993
	Q6PIE5
	NM_000702
	NM_178405
	NP_000693
	NP_848492
	Wikidata
View/Edit Human	View/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]

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 ATP1A2 have been found to cause hemiplegic migraine and epilepsy in an autosomal dominant fashion, sometimes co-occurring in families.[6] Additionally, it has been associated with an unusual form of migraine called alternating hemiplegia of childhood.[7][8][9]

References

GRCh38: Ensembl release 89: ENSG00000018625 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000007097 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: ATP1A2 ATPase, Na⁺/K⁺ transporting, alpha 2 (+) polypeptide".
Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983.
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.
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.
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.

External links

GeneReviews/NCBI/NIH/UW entry on Familial Hemiplegic Migraine
Human ATP1A2 genome location and ATP1A2 gene details page in the UCSC Genome Browser.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000018625 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: ATP1A2 ATPase, Na⁺/K⁺ transporting, alpha 2 (+) polypeptide".

[6] Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983.

[pmid14667076-7] 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.

[pmid15174025-8] 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.

[pmid15286158-9] 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.

ATP1A2

Function

Clinical significance

References

Further reading

External links