Recombinant Human Sodium/potassium-transporting ATPase subunit alpha-2 (ATP1A2), partial

1. The sporadic hemiplegic migraine is caused mutation of ATP1A2 gene. PMID: 29904856
2. A novel p.Arg348Pro ATP1A2 mutation was found in 14 family members: 12 with clinical familial hemiplegic migraine (FHM), one with psychomotor retardation and possible FHM, and one without FHM features PMID: 27226003
3. On the other hand, the presence of KCNK18 mutation indicated another FHM subtype. PMID: 26747084
4. A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine PMID: 25138102
5. 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. PMID: 25713066
6. 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 PMID: 24286483
7. Three patients with a proven mutation in the ATP1A2 gene clinically presented without hemiparesis. PMID: 24096472
8. mutations in the ATP1A2 gene might contribute to pulmonary arterial remodelling and pulmonary arterial hypertension PMID: 24136331
9. 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 PMID: 24097848
10. In this family, benign familial infantile seizures (BFIS) are caused by a PRRT2 mutation and hemiplegic migraine by p.Arg689Gln ATPase ATP1A2 mutation. PMID: 24928127
11. 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. PMID: 23918834
12. We describe a four-generation Italian family with familial hemiplegic migraine (FHM) and epilepsy due to a novel ATP1A2 missense mutation PMID: 23838748
13. Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease PMID: 24356962
14. genetic testing showed a mutation in the ATP1A2 gene OF two patients suffering from migraine with aura since youth PMID: 23821026
15. ATP1A2 missense mutations are associated with familial hemiplegic migraine. PMID: 23954377
16. 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. PMID: 23474907
17. 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 PMID: 22661290
18. Skeletal muscle in elderly individuals was characterized by decreased NKA alpha(2) protein abundance, but unchanged [(3)H]ouabain binding. PMID: 22936730
19. 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 PMID: 22013243
20. Data show that protein kinase A (PKA) phosphorylation has a drastic impact on Na(+)/K(+)-ATPase (NKA) structure and dynamics. PMID: 22433860
21. 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. PMID: 20936682
22. Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine. PMID: 22117059
23. Na(+)/K(+)-ATPase haploinsufficiency caused by the ATP1A2 p.G301R mutation is responsible for familial hemiplegic migraine in the described family. PMID: 21398422
24. 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 PMID: 21533730
25. ATP1A2 gene is involved in early-onset sporadic hemiplegic migraine, in particular when associated with neurologic signs PMID: 20837964
26. 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. PMID: 20720542
27. 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(+). PMID: 20100892
28. 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 PMID: 12496141
29. Structural basis for alpha1 versus alpha2 isoform-distinct behavior of the Na,K-ATPase PMID: 12529322
30. Haploinsufficiency of atp1a2 encoding the Na+/K+ pump alpha2 subunit is associated with familial hemiplegic migraine type 2 PMID: 12539047
31. 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 PMID: 12953268
32. 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. PMID: 14685860
33. Elevated plasma cholesterol may be responsible for the inhibition of erythrocyte Na+-K+ ATPase activity PMID: 14690302
34. first direct evidence of differential transcriptional control of ATP1A2 gene in the kidney and colon PMID: 14871878
35. the T345A mutation co-segregated with hemiplegic migraine type 2 in our family and was not present in 132 healthy Finnish control individuals PMID: 15133718
36. 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. PMID: 15159495
37. 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. PMID: 15174025
38. ATP1A2 gene is not associated with the more common migraine syndromes and is not one of the most common hemiplegic migraine genes. PMID: 15210532
39. A novel ATP1A2 heterozygous missense mutation found in a family with multicase Alternating hemiplegia of childhood. PMID: 15286158
40. Missense mutations in this enzyme subunit ause hemiplegic migraine. PMID: 15308625
41. ATP1A2 mutation may have a role in familial hemiplegic migraine type 2 with cerebellar signs PMID: 15459825
42. The entire carboxy-terminus of HKalpha2 is required for stable assembly with beta1-Na+,K+-ATPase and functionality. PMID: 15569317
43. 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 PMID: 16026932
44. missense mutations R689Q and M731T in familial hemiplegic migraine type 2 PMID: 16037212
45. analysis of ATP1A2 mutations in familial hemiplegic migraine PMID: 16088919
46. In conclusion we propose that rare variants in ATP1A2 are involved in the susceptibility to common forms of migraine. PMID: 16110494
47. 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. PMID: 16344534
48. 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. PMID: 16437583
49. Study shows that the ATP1A2 gene is probably not involved in migraine with aura. PMID: 16508934
50. Results showed no evidence for a common contribution of ATP1A2 to the pathogenesis of complex inherited migraine with aura. PMID: 16508935

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HGNC: 800

OMIM: 104290

KEGG: hsa:477

STRING: 9606.ENSP00000354490

UniGene: Hs.34114