ATP1A2

ATPase, Na+/K+ transporting, alpha 2 polypeptide
PDB rendering based on 1q3i.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1Q3I​
Identifiers
Symbols	ATP1A2 ; FHM2; MHP2
External IDs	OMIM: 182340 MGI: 88106 HomoloGene: 47947 ChEMBL: 2715 GeneCards: ATP1A2 Gene
EC number	3.6.3.9
Gene ontology Molecular function • sodium:potassium-exchanging ATPase activity • protein binding • ATP binding • drug binding • ATPase activity • potassium ion binding • sodium ion binding • chaperone binding • steroid hormone binding Cellular component • cytoplasm • endosome • cytosol • plasma membrane • sodium:potassium-exchanging ATPase complex • caveola • intercalated disc • membrane • T-tubule • dendritic spine • myelin sheath • extracellular vesicle Biological process • neurotransmitter uptake • regulation of the force of heart contraction • regulation of respiratory gaseous exchange by neurological system process • potassium ion transport • sodium ion transport • cellular sodium ion homeostasis • regulation of smooth muscle contraction • regulation of striated muscle contraction • regulation of blood pressure • adult locomotory behavior • visual learning • potassium ion import • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion • ATP hydrolysis coupled proton transport • regulation of vasoconstriction • cellular potassium ion homeostasis • ion transmembrane transport • response to nicotine • sodium ion export from cell • locomotion • negative regulation of heart contraction • negative regulation of striated muscle contraction • ATP metabolic process • negative regulation of cytosolic calcium ion concentration • regulation of glutamate uptake involved in transmission of nerve impulse • regulation of synaptic transmission, glutamatergic • transmembrane transport • relaxation of cardiac muscle • cardiac muscle contraction • cellular response to mechanical stimulus • cellular response to steroid hormone stimulus • regulation of cardiac muscle cell contraction • membrane repolarization • membrane depolarization during cardiac muscle cell action potential • cell communication by electrical coupling involved in cardiac conduction • negative regulation of calcium ion transmembrane transport • negative regulation of calcium:sodium antiporter activity • response to glycoside • potassium ion import across plasma membrane Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
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 Mb	Chr 1: 172.27 – 172.3 Mb
PubMed search

ATPase, Na⁺/K⁺ transporting, alpha 2 (+) polypeptide, also known as ATP1A2, is a protein which in humans is encoded by the ATP1A2 gene.^[1]

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.^[1]

Clinical significance

Mutations in the ATP1A2 gene has been implicated in the familial form of alternating hemiplegia of childhood.^[2][3][4]

References

1. "Entrez Gene: ATP1A2 ATPase, Na⁺/K⁺ transporting, alpha 2 (+) polypeptide".
2. 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.
3. 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.
4. 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

• Lingrel JB, Orlowski J, Shull MM, Price EM (1990). "Molecular genetics of Na,K-ATPase.". Prog. Nucleic Acid Res. Mol. Biol. 38: 37–89. doi:10.1016/S0079-6603(08)60708-4. PMID 2158121.
• Dunbar LA, Caplan MJ (2001). "Ion pumps in polarized cells: sorting and regulation of the Na⁺, K⁺- and H⁺, K⁺-ATPases.". J. Biol. Chem. 276 (32): 29617–20. doi:10.1074/jbc.R100023200. PMID 11404365.
• Shull MM, Pugh DG, Lingrel JB (1989). "Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms.". J. Biol. Chem. 264 (29): 17532–43. PMID 2477373.
• Sverdlov ED, Bessarab DA, Malyshev IV; et al. (1989). "Family of human Na⁺,K⁺-ATPase genes. Structure of the putative regulatory region of the alpha+-gene.". FEBS Lett. 244 (2): 481–3. doi:10.1016/0014-5793(89)80588-5. PMID 2537767.
• Yang-Feng TL, Schneider JW, Lindgren V; et al. (1988). "Chromosomal localization of human Na⁺, K⁺-ATPase alpha- and beta-subunit genes.". Genomics 2 (2): 128–38. doi:10.1016/0888-7543(88)90094-8. PMID 2842249.
• Shull MM, Lingrel JB (1987). "Multiple genes encode the human Na⁺,K⁺-ATPase catalytic subunit.". Proc. Natl. Acad. Sci. U.S.A. 84 (12): 4039–43. doi:10.1073/pnas.84.12.4039. PMC 305017. PMID 3035563.
• Sverdlov ED, Monastyrskaya GS, Broude NE; et al. (1987). "The family of human Na⁺,K⁺-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit.". FEBS Lett. 217 (2): 275–8. doi:10.1016/0014-5793(87)80677-4. PMID 3036582.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Zahler R, Gilmore-Hebert M, Baldwin JC; et al. (1993). "Expression of alpha isoforms of the Na,K-ATPase in human heart.". Biochim. Biophys. Acta 1149 (2): 189–94. doi:10.1016/0005-2736(93)90200-J. PMID 8391840.
• Stengelin MK, Hoffman JF (1997). "Na,K-ATPase subunit isoforms in human reticulocytes: evidence from reverse transcription-PCR for the presence of alpha1, alpha3, beta2, beta3, and gamma.". Proc. Natl. Acad. Sci. U.S.A. 94 (11): 5943–8. doi:10.1073/pnas.94.11.5943. PMC 20886. PMID 9159180.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Ducros A, Joutel A, Vahedi K; et al. (1998). "Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity.". Ann. Neurol. 42 (6): 885–90. doi:10.1002/ana.410420610. PMID 9403481.
• Terwindt GM, Ophoff RA, Lindhout D; et al. (1998). "Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.". Epilepsia 38 (8): 915–21. doi:10.1111/j.1528-1157.1997.tb01257.x. PMID 9579893.
• Nagase T, Ishikawa K, Suyama M; et al. (1999). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 5 (5): 277–86. doi:10.1093/dnares/5.5.277. PMID 9872452.
• Katzmarzyk PT, Rankinen T, Pérusse L; et al. (1999). "Linkage and association of the sodium potassium-adenosine triphosphatase alpha2 and beta1 genes with respiratory quotient and resting metabolic rate in the Québec Family Study.". J. Clin. Endocrinol. Metab. 84 (6): 2093–7. doi:10.1210/jc.84.6.2093. PMID 10372716.
• Rankinen T, Pérusse L, Borecki I; et al. (2000). "The Na⁺-K⁺-ATPase alpha2 gene and trainability of cardiorespiratory endurance: the HERITAGE family study.". J. Appl. Physiol. 88 (1): 346–51. PMID 10642400.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ukkola O, Joanisse DR, Tremblay A, Bouchard C (2003). "Na⁺-K⁺-ATPase alpha 2-gene and skeletal muscle characteristics in response to long-term overfeeding.". J. Appl. Physiol. 94 (5): 1870–4. doi:10.1152/japplphysiol.00942.2002. PMID 12496141.

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Hemiplegic Migraine