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Gene Review

ATP1A2  -  ATPase, Na+/K+ transporting, alpha 2...

Homo sapiens

Synonyms: FHM2, KIAA0778, MHP2, Na(+)/K(+) ATPase alpha-2 subunit, Sodium pump subunit alpha-2, ...
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Disease relevance of ATP1A2

  • Familial hemiplegic migraine, a rare Mendelian form of MA, can be caused by mutations in the calcium channel gene, CACNA1A or in the ATP1A2 gene, a Na+/K+ pump [1].
  • The frequency of a previously reported intronic insertion in ATP1A2 was not significantly different between patients with migraine and control subjects [2].
  • However, testing of the known ATP1A2 gene mutations (for FHM) in common migraine probands of pedigrees showing excess allele sharing was negative [3].
  • Here, we studied the ATP1A2 FHM2 gene in a young girl with episodes of both very severe and transient neurological symptoms that were triggered by mild head trauma as well as permanent mental retardation [4].
  • A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood [5].

Psychiatry related information on ATP1A2


High impact information on ATP1A2


Biological context of ATP1A2

  • Here, we describe novel missense mutations in the ATP1A2 Na(+),K(+)-ATPase pump gene on chromosome 1q23 in two families with FHM [9].
  • BACKGROUND: Mutations in CACNA1A, encoding a neuronal calcium channel subunit, and ATP1A2, encoding a catalytic subunit of a sodium-potassium-ATPase, have been found in some families with dominantly inherited hemiplegic migraine [2].
  • Recently, mutations in ATP1A2 on chromosome 1q23 encoding a Na+/K+ -ATPase subunit were identified in four families (FHM2) [10].
  • A common PstI RFLP was detected with the ATP1A2 probe [11].
  • The results obtained have allowed us to assign the loci for the ubiquitously expressed alpha-chain (ATP1A1) to human chromosome 1, region 1p21----cen, and for the alpha 2 isoform that predominates in neural and muscle tissues (ATP1A2) to chromosome 1, region cen----q32 [11].

Anatomical context of ATP1A2


Associations of ATP1A2 with chemical compounds

  • Mutant gene products of both CACNA1A and ATP1A2 may affect neurotransmission of glutamate, the most abundant excitatory amino acid neurotransmitter [14].
  • FHM mutations so far identified include those in CACNA1A (P/Q voltage-gated Ca(2+) channel), ATP1A2 (N(+)-K(+)-ATPase) and SCN1A (Na(+) channel) genes [15].

Other interactions of ATP1A2


Analytical, diagnostic and therapeutic context of ATP1A2

  • We screened the ATP1A2 gene by denaturing high performance liquid chromatography (D-HPLC) and direct sequencing of DNA fragments showing an aberrant elution pattern [19].
  • No significant differences in the ATP1A2 haplotype distribution could be detected between MA patients (or patient subgroups) and the control group [20].


  1. Significant linkage to migraine with aura on chromosome 11q24. Cader, Z.M., Noble-Topham, S., Dyment, D.A., Cherny, S.S., Brown, J.D., Rice, G.P., Ebers, G.C. Hum. Mol. Genet. (2003) [Pubmed]
  2. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Jen, J.C., Kim, G.W., Dudding, K.A., Baloh, R.W. Arch. Neurol. (2004) [Pubmed]
  3. Analysis of chromosome 1 microsatellite markers and the FHM2-ATP1A2 gene mutations in migraine pedigrees. Curtain, R.P., Lea, R.A., Tajouri, L., Haupt, L.M., Ovcaric, M., MacMillan, J., Griffiths, L.R. Neurol. Res. (2005) [Pubmed]
  4. Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Vanmolkot, K.R., Stroink, H., Koenderink, J.B., Kors, E.E., van den Heuvel, J.J., van den Boogerd, E.H., Stam, A.H., Haan, J., De Vries, B.B., Terwindt, G.M., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M. Ann. Neurol. (2006) [Pubmed]
  5. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. Bassi, M.T., Bresolin, N., Tonelli, A., Nazos, K., Crippa, F., Baschirotto, C., Zucca, C., Bersano, A., Dolcetta, D., Boneschi, F.M., Barone, V., Casari, G. J. Med. Genet. (2004) [Pubmed]
  6. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. De Fusco, M., Marconi, R., Silvestri, L., Atorino, L., Rampoldi, L., Morgante, L., Ballabio, A., Aridon, P., Casari, G. Nat. Genet. (2003) [Pubmed]
  7. Genomewide significant linkage to migrainous headache on chromosome 5q21. Nyholt, D.R., Morley, K.I., Ferreira, M.A., Medland, S.E., Boomsma, D.I., Heath, A.C., Merikangas, K.R., Montgomery, G.W., Martin, N.G. Am. J. Hum. Genet. (2005) [Pubmed]
  8. A complex dinucleotide repeat polymorphism in the human Na+K+ATPase alpha subunit (ATP1A2) gene. Lim, L.C., Gill, M. Hum. Mol. Genet. (1993) [Pubmed]
  9. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Vanmolkot, K.R., Kors, E.E., Hottenga, J.J., Terwindt, G.M., Haan, J., Hoefnagels, W.A., Black, D.F., Sandkuijl, L.A., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M. Ann. Neurol. (2003) [Pubmed]
  10. A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Spadaro, M., Ursu, S., Lehmann-Horn, F., Liana, V., Giovanni, A., Paola, G., Frontali, M., Jurkat-Rott, K. Neurogenetics (2004) [Pubmed]
  11. Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Yang-Feng, T.L., Schneider, J.W., Lindgren, V., Shull, M.M., Benz, E.J., Lingrel, J.B., Francke, U. Genomics (1988) [Pubmed]
  12. Mapping of the Na+, K(+)-ATPase subunit alpha 2 (ATP1A2) and muscle phosphofructokinase (PFKM) genes in pig by somatic cell hybrid analysis. Fontanesi, L., Davoli, R., Zijlstra, C., Bosma, A.A., Russo, V. Anim. Genet. (1999) [Pubmed]
  13. Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPase. Buono, R.J., Ferraro, T.N., O'Connor, M.J., Sperling, M.R., Abbey, M., Finanger, E., Lohoff, F., Mulholland, N., Berrettini, W.H. Am. J. Med. Genet. (2000) [Pubmed]
  14. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Jen, J.C., Wan, J., Palos, T.P., Howard, B.D., Baloh, R.W. Neurology (2005) [Pubmed]
  15. Recent advances in understanding migraine mechanisms, molecules and therapeutics. Goadsby, P.J. Trends in molecular medicine (2007) [Pubmed]
  16. Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4. Keryanov, S., Gardner, K.L. Gene (2002) [Pubmed]
  17. Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. von Brevern, M., Ta, N., Shankar, A., Wiste, A., Siegel, A., Radtke, A., Sander, T., Escayg, A. Headache. (2006) [Pubmed]
  18. No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. Lohoff, F.W., Ferraro, T.N., Sander, T., Zhao, H., Dahl, J.P., Berrettini, W.H., Buono, R.J. Neurosci. Lett. (2005) [Pubmed]
  19. No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures. Martinelli Boneschi, F., Aridon, P., Zara, F., Guerrini, R., Marini, C., De Fusco, M., Comi, G., Casari, G. Neurosci. Lett. (2005) [Pubmed]
  20. Haplotype-based systematic association studies of ATP1A2 in migraine with aura. Netzer, C., Todt, U., Heinze, A., Freudenberg, J., Zumbroich, V., Becker, T., Goebel, I., Ohlraun, S., Goebel, H., Kubisch, C. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2006) [Pubmed]
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