Property Summary

NCBI Gene PubMed Count 116
Grant Count 2
R01 Count 1
Funding $268,810
PubMed Score 117.88
PubTator Score 141.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (23)

Disease log2 FC p
nephrosclerosis 1.078 0.001
psoriasis -1.700 0.000
glioblastoma -2.800 0.009
group 3 medulloblastoma -3.600 0.000
atypical teratoid/rhabdoid tumor -3.500 0.000
medulloblastoma, large-cell -4.200 0.000
primitive neuroectodermal tumor -1.900 0.006
Duchenne muscular dystrophy -1.262 0.000
Atopic dermatitis -1.500 0.002
non-small cell lung cancer -1.195 0.000
colon cancer -4.000 0.000
lung cancer -1.500 0.003
pediatric high grade glioma -2.900 0.000
subependymal giant cell astrocytoma -3.173 0.047
lung adenocarcinoma -2.500 0.000
inflammatory breast cancer -1.400 0.000
breast carcinoma -1.200 0.000
Pick disease 1.300 0.001
ductal carcinoma in situ -3.200 0.000
invasive ductal carcinoma -3.200 0.004
ovarian cancer -1.300 0.019
chronic rhinosinusitis -2.002 0.039
head and neck cancer -1.900 0.026

Gene

PANTHER Protein Class (2)

 Grant Application (2)

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.
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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.
More...