ATP1A2

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.

Mutations in ATP1A2 have been found to cause hemiplegic migraine and epilepsy in an autosomal dominant fashion, sometimes co-occurring in families.{{cite journal | vauthors = Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA | title = The expanding spectrum of movement disorders in genetic epilepsies | journal = Developmental Medicine and Child Neurology | volume = 62 | issue = 2 | pages = 178–191 | date = February 2020 | pmid = 31784983 | doi = 10.1111/dmcn.14407 | s2cid = 208498567 | url = https://discovery.ucl.ac.uk/id/eprint/10088482/1/Kurian_Papandreou%20DMCN%20Final_clean.pdf }} Additionally, it has been associated with an unusual form of migraine called alternating hemiplegia of childhood.{{cite journal | vauthors = Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S | title = Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait | journal = Developmental Medicine and Child Neurology | volume = 45 | issue = 12 | pages = 833–6 | date = December 2003 | pmid = 14667076 | doi = 10.1017/S0012162203001543 | url = http://www3.interscience.wiley.com/resolve/openurl?genre=article&issn=0012-1622&date=2003&volume=45&issue=12&spage=833 | url-access = subscription }}{{dead link|date=February 2019|bot=medic}}{{cbignore|bot=medic}}{{cite journal | vauthors = Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S | display-authors = 6 | title = Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation | journal = Annals of Neurology | volume = 55 | issue = 6 | pages = 884–7 | date = June 2004 | pmid = 15174025 | doi = 10.1002/ana.20134 | s2cid = 13430399 }}{{cite journal | vauthors = Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G | display-authors = 6 | title = A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood | journal = Journal of Medical Genetics | volume = 41 | issue = 8 | pages = 621–8 | date = August 2004 | pmid = 15286158 | pmc = 1735877 | doi = 10.1136/jmg.2003.017863 }}

{{reflist}}

{{refbegin | 2}}

• {{cite book | vauthors=Lingrel JB, Orlowski J, Shull MM, Price EM |title=Molecular genetics of Na,K-ATPase. |journal=Prog. Nucleic Acid Res. Mol. Biol. |volume=38 |pages= 37–89 |year= 1990 |pmid= 2158121 |doi=10.1016/S0079-6603(08)60708-4 |series=Progress in Nucleic Acid Research and Molecular Biology |isbn=9780125400381 }}
• {{cite journal | vauthors = Dunbar LA, Caplan MJ | title = Ion pumps in polarized cells: sorting and regulation of the Na+, K+- and H+, K+-ATPases | journal = The Journal of Biological Chemistry | volume = 276 | issue = 32 | pages = 29617–20 | date = August 2001 | pmid = 11404365 | doi = 10.1074/jbc.R100023200 | doi-access = free }}
• {{cite journal | vauthors = Shull MM, Pugh DG, Lingrel JB | title = Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms | journal = The Journal of Biological Chemistry | volume = 264 | issue = 29 | pages = 17532–43 | date = October 1989 | doi = 10.1016/S0021-9258(18)71525-1 | pmid = 2477373 | doi-access = free }}
• {{cite journal | vauthors = Sverdlov ED, Bessarab DA, Malyshev IV, Petrukhin KE, Monastyrskaya GS, Broude NE, Modyanov NN | title = Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene | journal = FEBS Letters | volume = 244 | issue = 2 | pages = 481–3 | date = February 1989 | pmid = 2537767 | doi = 10.1016/0014-5793(89)80588-5 | s2cid = 85369528 | doi-access = free }}
• {{cite journal | vauthors = Yang-Feng TL, Schneider JW, Lindgren V, Shull MM, Benz EJ, Lingrel JB, Francke U | title = Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes | journal = Genomics | volume = 2 | issue = 2 | pages = 128–38 | date = February 1988 | pmid = 2842249 | doi = 10.1016/0888-7543(88)90094-8 }}
• {{cite journal | vauthors = Shull MM, Lingrel JB | title = Multiple genes encode the human Na+,K+-ATPase catalytic subunit | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 84 | issue = 12 | pages = 4039–43 | date = June 1987 | pmid = 3035563 | pmc = 305017 | doi = 10.1073/pnas.84.12.4039 | bibcode = 1987PNAS...84.4039S | doi-access = free }}
• {{cite journal | vauthors = Sverdlov ED, Monastyrskaya GS, Broude NE, Allikmets RL, Melkov AM, Malyshev IV, Dulobova IE, Petrukhin KE | display-authors = 6 | title = The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit | journal = FEBS Letters | volume = 217 | issue = 2 | pages = 275–8 | date = June 1987 | pmid = 3036582 | doi = 10.1016/0014-5793(87)80677-4 | doi-access = free }}
• {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
• {{cite journal | vauthors = Zahler R, Gilmore-Hebert M, Baldwin JC, Franco K, Benz EJ | title = Expression of alpha isoforms of the Na,K-ATPase in human heart | journal = Biochimica et Biophysica Acta (BBA) - Biomembranes | volume = 1149 | issue = 2 | pages = 189–94 | date = July 1993 | pmid = 8391840 | doi = 10.1016/0005-2736(93)90200-J }}
• {{cite journal | vauthors = Stengelin MK, Hoffman JF | title = Na,K-ATPase subunit isoforms in human reticulocytes: evidence from reverse transcription-PCR for the presence of alpha1, alpha3, beta2, beta3, and gamma | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 11 | pages = 5943–8 | date = May 1997 | pmid = 9159180 | pmc = 20886 | doi = 10.1073/pnas.94.11.5943 | bibcode = 1997PNAS...94.5943S | doi-access = free }}
• {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
• {{cite journal | vauthors = Ducros A, Joutel A, Vahedi K, Cecillon M, Ferreira A, Bernard E, Verier A, Echenne B, Lopez de Munain A, Bousser MG, Tournier-Lasserve E | display-authors = 6 | title = Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity | journal = Annals of Neurology | volume = 42 | issue = 6 | pages = 885–90 | date = December 1997 | pmid = 9403481 | doi = 10.1002/ana.410420610 | s2cid = 20915050 }}
• {{cite journal | vauthors = Terwindt GM, Ophoff RA, Lindhout D, Haan J, Halley DJ, Sandkuijl LA, Brouwer OF, Frants RR, Ferrari MD | display-authors = 6 | title = Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome | journal = Epilepsia | volume = 38 | issue = 8 | pages = 915–21 | date = August 1997 | pmid = 9579893 | doi = 10.1111/j.1528-1157.1997.tb01257.x | doi-access = free }}
• {{cite journal | vauthors = Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | display-authors = 6 | title = 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 | journal = DNA Research | volume = 5 | issue = 5 | pages = 277–86 | date = October 1998 | pmid = 9872452 | doi = 10.1093/dnares/5.5.277 | doi-access = free }}
• {{cite journal | vauthors = Katzmarzyk PT, Rankinen T, Pérusse L, Dériaz O, Tremblay A, Borecki I, Rao DC, Bouchard C | display-authors = 6 | title = 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 | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 84 | issue = 6 | pages = 2093–7 | date = June 1999 | doi = 10.1210/jcem.84.6.5774 | pmid = 10372716 | doi-access = free }}
• {{cite journal | vauthors = Rankinen T, Pérusse L, Borecki I, Chagnon YC, Gagnon J, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C | display-authors = 6 | title = The Na(+)-K(+)-ATPase alpha2 gene and trainability of cardiorespiratory endurance: the HERITAGE family study | journal = Journal of Applied Physiology | volume = 88 | issue = 1 | pages = 346–51 | date = January 2000 | pmid = 10642400 | doi = 10.1152/jappl.2000.88.1.346 }}
• {{cite journal | vauthors = Ukkola O, Joanisse DR, Tremblay A, Bouchard C | title = Na+-K+-ATPase alpha 2-gene and skeletal muscle characteristics in response to long-term overfeeding | journal = Journal of Applied Physiology | volume = 94 | issue = 5 | pages = 1870–4 | date = May 2003 | pmid = 12496141 | doi = 10.1152/japplphysiol.00942.2002 | citeseerx = 10.1.1.546.5874 }}

{{refend}}

{{PDB Gallery|geneid=477}}

• [https://www.ncbi.nlm.nih.gov/books/NBK1388/ GeneReviews/NCBI/NIH/UW entry on Familial Hemiplegic Migraine]
• {{UCSC gene info|ATP1A2}}

{{ATPases}}

{{gene-1-stub}}