Property Summary

NCBI Gene PubMed Count 116
PubMed Score 117.88
PubTator Score 141.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

  Differential Expression (23)

Disease log2 FC p
nephrosclerosis 1.078 9.8e-04
psoriasis -1.700 2.2e-80
glioblastoma -2.800 9.5e-03
group 3 medulloblastoma -3.600 1.2e-07
atypical teratoid/rhabdoid tumor -3.500 1.3e-07
medulloblastoma, large-cell -4.200 1.6e-06
primitive neuroectodermal tumor -1.900 5.9e-03
Duchenne muscular dystrophy -1.262 4.7e-06
Atopic dermatitis -1.500 1.6e-03
non-small cell lung cancer -1.195 1.8e-11
colon cancer -4.000 7.1e-11
lung cancer -1.500 3.1e-03
pediatric high grade glioma -2.900 1.7e-04
subependymal giant cell astrocytoma -3.173 4.7e-02
lung adenocarcinoma -2.500 1.6e-12
inflammatory breast cancer -1.400 1.5e-05
breast carcinoma -1.200 4.6e-12
Pick disease 1.300 9.4e-04
ductal carcinoma in situ -3.200 1.3e-05
invasive ductal carcinoma -3.200 4.4e-03
ovarian cancer -1.300 1.9e-02
chronic rhinosinusitis -2.002 3.9e-02
head and neck cancer -1.900 2.6e-02

Protein-protein Interaction (9)

Gene RIF (87)

PMID Text
25994790 Report tumor cell sensitivity to cardiac glycosides depends on pattern of expression of alpha1-, alpha2-, or alpha3-isoforms of Na-K-ATPase.
25713066 Data indicate that a second-site mutation distant from Na+ site III increases Na+ affinity, Na(+),K(+)-ATPase activity, and cellular K+ uptake in mutants with the replacement of the aspartate.
25138102 A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine
24928127 In this family, benign familial infantile seizures (BFIS) are caused by a PRRT2 mutation and hemiplegic migraine by p.Arg689Gln ATPase ATP1A2 mutation.
24356962 Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease
24286483 genome-wide linkage analysis of the migraine phenotype in 38 families with Rolandic epilepsy; evidence found of linkage to migraine at chromosome 17q12-22 and suggestive evidence at 1q23.1-23.2, centering over the FHM2 locus
24136331 mutations in the ATP1A2 gene might contribute to pulmonary arterial remodelling and pulmonary arterial hypertension
24097848 Identification of a novel heterozygous mutation in the ATP1A2 gene (c.1766T>C, Ile589Thr) causing atypical alternating hemiplegia of childhood in a Saudi consanguineous family
24096472 Three patients with a proven mutation in the ATP1A2 gene clinically presented without hemiparesis.
23954377 ATP1A2 missense mutations are associated with familial hemiplegic migraine.
23918834 The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.
23838748 We describe a four-generation Italian family with familial hemiplegic migraine (FHM) and epilepsy due to a novel ATP1A2 missense mutation
23821026 genetic testing showed a mutation in the ATP1A2 gene OF two patients suffering from migraine with aura since youth
23474907 Data indicate that (4-Chloro-2-(piperidin-1-yl)thiazol-5-yl)(phenyl)methanone and (4-bromo-2-(piperidin-1-yl)thiazol-5-yl)(phenyl)methanone inhibited cell growth through inhibition of both alpha-1 Na(+)/K(+)-ATPase (NAK) and Ras oncogene activity.
22936730 Skeletal muscle in elderly individuals was characterized by decreased NKA alpha(2) protein abundance, but unchanged [(3)H]ouabain binding.
22661290 examined a family with a FHM phenotype due to a M731T mutation in ATP1A2. A 10-year follow-up allowed us to observe complex auras, including psychotic symptoms in two siblings
22565168 Data show that Na(+),K(+)-ATPase activity was >50% lower and membrane-associated tubulin content was >200% higher in erythrocyte membranes from diabetic patients.
22433860 Data show that protein kinase A (PKA) phosphorylation has a drastic impact on Na(+)/K(+)-ATPase (NKA) structure and dynamics.
22117059 Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.
22013243 cerebral blood flow changes during attacks of hemiplegic migraine with prolonged aura longer than 24 h in patients with familial hemiplegic migraine with a novel gene mutation; authors identified a novel heterozygous p.H916L mutation in the ATP1A2 gene in all three individuals in the family
21533730 these results demonstrate a more frequent involvement of the ATP1A2 gene in the sporadic as well as familial forms of hemiplegic migraine in Italian patients without permanent cerebellar signs
21398422 Na(+)/K(+)-ATPase haploinsufficiency caused by the ATP1A2 p.G301R mutation is responsible for familial hemiplegic migraine in the described family.
20952631 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20936682 Altered dopamine signaling in Na,K-ATPasealpha2 transgenic mice contributes to reduced startle reactivity, lack of habituation, disruption of navigational circuitry, and impaired egocentric learning.
20837964 ATP1A2 gene is involved in early-onset sporadic hemiplegic migraine, in particular when associated with neurologic signs
20720542 Using the human alpha2 isoform, a novel model for ion transport by the Na+/K+-ATPase is established by electrophysiological studies of C-terminal mutations in familial hemiplegic migraine 2.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20100892 deletion of two tyrosines at the carboxy terminus of the human Na(+)/K(+)-ATPase alpha(2) subunit decreases the affinity for extracellular and intracellular Na(+).
19913121 Observational study of gene-disease association. (HuGE Navigator)
19874388 study investigated the molecular basis of febrile seizures in a small family with co-occurring hemiplegic migraine & febrile seizures; findings indicate ATP1A2 p.Gly855Arg mutation is the causal mutation in this family
19751721 Cardiac glycosides show distinct isoform specific affinities and different affinity profiles to Na(+),K(+)-ATPase isoforms which have different subcellular localizations in human cardiomyocytes.
19638348 Data show that PLM associates with and modulates both NKA-alpha1 and NKA-alpha2 in a comparable but not identical manner.
19372756 functional data on a set of ATP1A2 mutations (G301R, R908Q and P979L) reveal temperature-sensitive effects on protein stability can underlie ATP1A2 loss-of-function
19199261 The rs4961 polymorphism of the ADD1 gene is associated with essential hypertension, but the rs28933400 locus in the ATP1A2 gene may have no association with essential hypertension in the studied population.
19199261 Observational study of gene-disease association. (HuGE Navigator)
19058785 Significant nominal association with bipolar disooder was observed for single Single Nucleotide Polymorphism(rs2070704, rs1016732, rs2854248, and rs2295623) in the gene of ATP1A2.
19058785 Observational study of gene-disease association. (HuGE Navigator)
19007941 familial hemiplegic migraine 3 is a high resistant molecule when compared to FHM1 and FHM2
18957371 Several mutations in alpha2 have been identified that link the specific function of the Na+,K+-ATPase to the pathophysiology of neurological diseases such as rapid-onset dystonia parkinsonism and familial hemiplegic migraine type 2
18811707 the T378N mutation was not found in in five patients with alternating hemiplegia of childhood
18728015 Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.(
18644608 A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures.
18513263 4 new variants were found in exons of the ATP1A2 gene in sporadic hemiplegic migraine patients. It does not seem that ATP1A2 is a major gene in SHM.
18513263 Observational study of gene-disease association. (HuGE Navigator)
18498390 We studied four members of a family suffering from typical attacks of familial hemiplegic migraine (FHM) caused by a new mutation, R548C, of ATP1A2 gene in exon 12.
18483709 In this study we document the absence of ATP1A2 mutations in two Italian sisters with menstrual BM, suggesting that other genes are involved in the condition.
18451712 Nineteen novel ATP1A2 mutations were identified last year, eleven of them migraine families. A systematic genetic analysis of patients with sporadic hemiplegic migraine revealed five mutations in this gene [review]
18294248 glyceryl trinitrate infusion failed to induce more migraine in FHM-2 patients than in controls
18184292 D999H is a novel Hemiplegic Migraine, Familial ATP1A2 mutation in an Irish family.
18056581 Sequence variants were identified in seven SHM patients: one CACNA1A mutation, five ATP1A2 mutations, and one SCN1A polymorphism. All six mutations caused functional changes in cellular assays.
18052210 reconstituted FXYD1 protects both alpha1beta1 and alpha2beta1 very strongly against thermal inactivation
18028456 two novel ATP1A2 mutations that were identified in two Portuguese probands with hemiplegic migraine and interesting additional clinical features
18028407 Novel ATP1A2 mutations were found in two of the 20 families (10%). The p.Gly900Arg mutation was present in a family with epilepsy and FHM, and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine .
17952365 the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two Portuguese FHM families
17877748 confirm the involvement of ATP1A2 gene in the sporadic form of hemiplegic migraine
17727731 Observational study of gene-disease association. (HuGE Navigator)
17473835 Compound heterozygote found in familial hemiplegic migraine.
17446412 Elevated Na+ -K+ -ATPase activity postexercise may contribute to reduced fatigue after training.
17119788 study to identify whether CACNA1A and ATP1A2 are or not related to Brazilian familial hemiplegic migraine
16538223 analysis of two novel de novo missense mutations in ATP1A2, R593W and V628M, associated with pure familial hemiplegic migraine
16508935 Observational study of gene-disease association. (HuGE Navigator)
16508935 Results showed no evidence for a common contribution of ATP1A2 to the pathogenesis of complex inherited migraine with aura.
16508934 Study shows that the ATP1A2 gene is probably not involved in migraine with aura.
16437583 This study identified a novel G615R ATP1A2 mutation in the proband and several of her family members. Functional analysis of mutant Na,K-ATPase in cellular survival assays showed a complete loss-of-function effect.
16430714 Observational study of gene-disease association. (HuGE Navigator)
16344534 The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.
16110494 In conclusion we propose that rare variants in ATP1A2 are involved in the susceptibility to common forms of migraine.
16088919 analysis of ATP1A2 mutations in familial hemiplegic migraine
16037212 missense mutations R689Q and M731T in familial hemiplegic migraine type 2
16026932 The ATP1A2 gene does not appear to be involved in the ethiopathogenesis of pure benign familial infantile seizures, at least in the explored Italian multiplex families
15911117 Observational study of gene-disease association. (HuGE Navigator)
15569317 The entire carboxy-terminus of HKalpha2 is required for stable assembly with beta1-Na+,K+-ATPase and functionality.
15459825 ATP1A2 mutation may have a role in familial hemiplegic migraine type 2 with cerebellar signs
15308625 Missense mutations in this enzyme subunit ause hemiplegic migraine.
15286158 A novel ATP1A2 heterozygous missense mutation found in a family with multicase Alternating hemiplegia of childhood.
15210532 ATP1A2 gene is not associated with the more common migraine syndromes and is not one of the most common hemiplegic migraine genes.
15174025 This study report a novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases.
15159495 3 putative A1A2 mutations (D718N, R763H, P979L) &3 that await validation (P796R, E902K, X1021R)were found in familial hemiplegic migraine. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM.
15133718 the T345A mutation co-segregated with hemiplegic migraine type 2 in our family and was not present in 132 healthy Finnish control individuals
14871878 first direct evidence of differential transcriptional control of ATP1A2 gene in the kidney and colon
14690302 Elevated plasma cholesterol may be responsible for the inhibition of erythrocyte Na+-K+ ATPase activity
14685860 Patients with type 2 diabetes and controls were leg strength-trained for 30 min 3x per week for 6 weeks. In control subjects Na,K-pump alpha2 was increased by 21% in trained compared to untrained leg, and in diabetics alpha2 content was 41% higher.
12953268 novel missense mutations in the ATP1A2 Na(+),K(+)-ATPase pump gene on chromosome 1q23 in two families with familial hemiplegic migraine (FHM). affected family members with FHM, benign familial infantile convulsions, or both, carry the mutation
12539047 Haploinsufficiency of atp1a2 encoding the Na+/K+ pump alpha2 subunit is associated with familial hemiplegic migraine type 2
12529322 Structural basis for alpha1 versus alpha2 isoform-distinct behavior of the Na,K-ATPase
12496141 fat mass, low-density lipoprotein cholesterol, and skeletal muscle glycolytic-to-oxidative enzyme ratio increased more in the alpha2-gene negative subjects with overfeeding, suggesting more unfavorable metabolic changes compared with the (+) subjects
11257061 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGRGAGREYSPAATTAENGGGKKKQKEKELDELKKEVAMDDHKLSLDELGRKYQVDLSKGLTNQRAQDVL      1 - 70
ARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAAMEDEPSNDNLYLGVVLAAVVIV     71 - 140
TGCFSYYQEAKSSKIMDSFKNMVPQQALVIREGEKMQINAEEVVVGDLVEVKGGDRVPADLRIISSHGCK    141 - 210
VDNSSLTGESEPQTRSPEFTHENPLETRNICFFSTNCVEGTARGIVIATGDRTVMGRIATLASGLEVGRT    211 - 280
PIAMEIEHFIQLITGVAVFLGVSFFVLSLILGYSWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMA    281 - 350
RKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGATFDKRSPTWTALS    351 - 420
RIAGLCNRAVFKAGQENISVSKRDTAGDASESALLKCIELSCGSVRKMRDRNPKVAEIPFNSTNKYQLSI    421 - 490
HEREDSPQSHVLVMKGAPERILDRCSTILVQGKEIPLDKEMQDAFQNAYMELGGLGERVLGFCQLNLPSG    491 - 560
KFPRGFKFDTDELNFPTEKLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGI    561 - 630
ISEGNETVEDIAARLNIPMSQVNPREAKACVVHGSDLKDMTSEQLDEILKNHTEIVFARTSPQQKLIIVE    631 - 700
GCQRQGAIVAVTGDGVNDSPALKKADIGIAMGISGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLK    701 - 770
KSIAYTLTSNIPEITPFLLFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEAAESDIMKRQPRNSQTDK    771 - 840
LVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPSRLLGIRLDWDDRTMNDLEDSYGQEWTYEQRKV    841 - 910
VEFTCHTAFFASIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLLEETALAAFLSYCPGMGVALRMYPL    911 - 980
KVTWWFCAFPYSLLIFIYDEVRKLILRRYPGGWVEKETYY                                  981 - 1020
//

Text Mined References (119)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25994790 2015 Cardiac glycosides induced toxicity in human cells expressing ?1-, ?2-, or ?3-isoforms of Na-K-ATPase.
25713066 2015 Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.
25138102 2015 A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
24928127 2014 PRRT2 and hemiplegic migraine: a complex association.
24769233 2014 Proteomic analysis of cerebrospinal fluid extracellular vesicles: a comprehensive dataset.
24356962 2014 Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.
24286483 2014 Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci.
24136331 2014 Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy.
24097848 2014 A wide clinical phenotype spectrum in patients with ATP1A2 mutations.
24096472 2014 Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene.
23954377 2013 Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions.
23918834 2014 A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
23838748 2013 Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.
23821026 2013 Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations.
23608603 2013 Na? transport in the normal and failing heart - remember the balance.
23474907 2013 4-Bromo-2-(piperidin-1-yl)thiazol-5-yl-phenyl methanone (12b) inhibits Na+/K(+)-ATPase and Ras oncogene activity in cancer cells.
23241943 2013 Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.
23224879 2013 Coordinated regulation of cardiac Na(+)/Ca (2+) exchanger and Na (+)-K (+)-ATPase by phospholemman (FXYD1).
22936730 2012 Unchanged [3H]ouabain binding site content but reduced Na+-K+ pump ?2-protein abundance in skeletal muscle in older adults.
22661290 2012 Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2).
22565168 2012 High glucose levels induce inhibition of Na,K-ATPase via stimulation of aldose reductase, formation of microtubules and formation of an acetylated tubulin/Na,K-ATPase complex.
22433860 2012 Protein kinase A (PKA) phosphorylation of Na+/K+-ATPase opens intracellular C-terminal water pathway leading to third Na+-binding site in molecular dynamics simulations.
22117059 2012 Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.
22013243 2012 Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation.
21533730 2011 The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine.
21398422 2011 A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation.
21352219 2011 Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.
20952631 2010 Association of single-nucleotide polymorphisms from 17 candidate genes with baseline symptom-limited exercise test duration and decrease in duration over 20 years: the Coronary Artery Risk Development in Young Adults (CARDIA) fitness study.
20936682 2011 Targeted mutations in the Na,K-ATPase ? 2 isoform confer ouabain resistance and result in abnormal behavior in mice.
20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.
20720542 2010 Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20100892 2010 Hyperpolarization-activated inward leakage currents caused by deletion or mutation of carboxy-terminal tyrosines of the Na+/K+-ATPase {alpha} subunit.
20065300 2010 Expression and distribution of Na, K-ATPase isoforms in the human uterus.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19874388 2009 Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.
19751721 2009 Isoform specificity of cardiac glycosides binding to human Na+,K+-ATPase alpha1beta1, alpha2beta1 and alpha3beta1.
19683723 2009 Dysfunction of ouabain-induced cardiac contractility in mice with heart-specific ablation of Na,K-ATPase beta1-subunit.
19638348 2009 Isoform specificity of the Na/K-ATPase association and regulation by phospholemman.
19372756 Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine.
19199261 2009 [Association of the polymorphisms of sodium transport related genes with essential hypertension].
19058785 2009 Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders.
19007941 2009 FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2.
18957371 2009 The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.
18811707 2008 'Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood'.
18728015 2008 Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18644608 2008 A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures.
18513263 2008 Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.
18498390 2008 Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation.
18483709 2008 ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses.
18451712 2008 Genetics of migraine: an update with special attention to genetic comorbidity.
18294248 2008 Familial hemiplegic migraine type 2 does not share hypersensitivity to nitric oxide with common types of migraine.
18184292 2008 A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.
18056581 2007 Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.
18052210 2007 Purification of the human alpha2 Isoform of Na,K-ATPase expressed in Pichia pastoris. Stabilization by lipids and FXYD1.
18028456 2008 Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
18028407 2008 Epilepsy as part of the phenotype associated with ATP1A2 mutations.
17952365 2007 Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
17877748 2007 Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.
17727731 2007 Association analysis of chromosome 1 migraine candidate genes.
17473835 2007 First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
17446412 2007 Muscle Na+-K+-ATPase activity and isoform adaptations to intense interval exercise and training in well-trained athletes.
17119788 2006 Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16538223 2006 Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.
16508935 2006 Haplotype-based systematic association studies of ATP1A2 in migraine with aura.
16508934 2006 The CACNA1A and ATP1A2 genes are not involved in dominantly inherited migraine with aura.
16437583 2006 Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.
16430714 2006 Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16344534 2005 Familial basilar migraine associated with a new mutation in the ATP1A2 gene.
16110494 2005 Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.
16088919 2005 ATP1A2 mutations in 11 families with familial hemiplegic migraine.
16037212 2005 Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.
16026932 2005 No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures.
15911117 2005 No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy.
15569317 2004 A carboxy-terminus motif of HKalpha2 is necessary for assembly and function.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15459825 2004 A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
15383549 2004 Translationally controlled tumor protein interacts with the third cytoplasmic domain of Na,K-ATPase alpha subunit and inhibits the pump activity in HeLa cells.
15308625 2004 Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2.
15286158 2004 A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
15210532 2004 No mutations in CACNA1A and ATP1A2 in probands with common types of migraine.
15174025 2004 Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
15159495 2004 Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.
15133718 2004 A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.
15071553 2004 Biology, structure and mechanism of P-type ATPases.
14871878 2004 In vivo expression profile of a H+-K+-ATPase alpha2-subunit promoter-reporter transgene.
14742675 2004 New molecular determinants controlling the accessibility of ouabain to its binding site in human Na,K-ATPase alpha isoforms.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14690302 2003 Relation of erythrocyte Na+-K+ ATPase activity and cholesterol and oxidative stress in patients with type 2 diabetes mellitus.
14685860 2004 Effect of resistance training on Na,K pump and Na+/H+ exchange protein densities in muscle from control and patients with type 2 diabetes.
14667076 2003 Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
12953268 2003 Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
12805306 2003 Degeneration of the amygdala/piriform cortex and enhanced fear/anxiety behaviors in sodium pump alpha2 subunit (Atp1a2)-deficient mice.
12539047 2003 Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
12529322 2003 Structural basis for alpha1 versus alpha2 isoform-distinct behavior of the Na,K-ATPase.
12496141 2003 Na+-K+-ATPase alpha 2-gene and skeletal muscle characteristics in response to long-term overfeeding.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11404365 2001 Ion pumps in polarized cells: sorting and regulation of the Na+, K+- and H+, K+-ATPases.
11257061 2001 Relation of alleles of the sodium-potassium adenosine triphosphatase alpha 2 gene with blood pressure and lead exposure.
10642400 2000 The Na(+)-K(+)-ATPase alpha2 gene and trainability of cardiorespiratory endurance: the HERITAGE family study.
10636900 2000 Transport and pharmacological properties of nine different human Na, K-ATPase isozymes.
10372716 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.
9872452 1998 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.
9579893 1997 Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.
9403481 1997 Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity.
9159180 1997 Na,K-ATPase subunit isoforms in human reticulocytes: evidence from reverse transcription-PCR for the presence of alpha1, alpha3, beta2, beta3, and gamma.
8391840 1993 Expression of alpha isoforms of the Na,K-ATPase in human heart.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7711835 Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle.
3036582 1987 The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit.
3035563 1987 Multiple genes encode the human Na+,K+-ATPase catalytic subunit.
2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.
2537767 1989 Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene.
2477373 1989 Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms.
2158121 1990 Molecular genetics of Na,K-ATPase.