Sodium/potassium-transporting ATPase subunit alpha-2

UniProt P50993 Organism Homo sapiens Gene ATP1A2, KIAA0778 EC 7.2.2.13

Also known as: ATP1A2, KIAA0778

Function

Catalytic subunit of the Na(+)/K(+)-ATPase that hydrolyzes ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle. It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane (By similarity). This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function.

Classification

Family (Pfam): PF13246 Cation_ATPase, PF00689 Cation_ATPase_C, PF00690 Cation_ATPase_N, PF00122 E1-E2_ATPase
InterPro: ATPase_P-typ_cation-transptr_C, ATPase_P-typ_cation-transptr_N, ATPase_P-typ_cyto_dom_N, ATPase_P-typ_P_site, ATPase_P-typ_TM_dom_sf, ATPase_P-typ_transduc_dom_A_sf, ATPase_P-type_domA, Cation_transp_ATPase_P-type, HAD-like_sf, HAD_sf, P-type_ATPase_IIC, P_typ_ATPase, P_typ_ATPase_HD_dom
Functional cluster: Oxidoreductases, Catalases & Peroxidases

Gene Ontology · 66

Disease associations

alternating hemiplegia of childhood 1 MONDO:0007087
migraine, familial hemiplegic, 2 MONDO:0011232
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies MONDO:0859204
developmental and epileptic encephalopathy 98 MONDO:0030472

Drugs targeting this protein · 6

DESLANOSIDE inhibitor
DIGOXIN inhibitor
ISTAROXIME inhibitor
DIGITOXIN inhibitor
ACETYLDIGITOXIN inhibitor
LANATOSIDE C inhibitor

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Sodium/potassium-transporting ATPase subunit alpha-3 3 shared papers
Sodium/potassium-transporting ATPase subunit alpha-1 3 shared papers
Potassium-transporting ATPase alpha chain 2 2 shared papers
Potassium-transporting ATPase alpha chain 1 1 shared papers
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 1 shared papers
Pyridoxine-5'-phosphate oxidase 1 shared papers
Gamma-aminobutyric acid receptor subunit delta 1 shared papers
Ras/Rap GTPase-activating protein SynGAP 1 shared papers
Protocadherin-19 1 shared papers
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A 1 shared papers
Spectrin alpha chain, non-erythrocytic 1 1 shared papers
Homeobox protein ARX 1 shared papers

Literature · 19 cited papers

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain · 2021
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. Brain · 2019
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur. J. Med. Genet. · 2020
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes. Hum. Mutat. · 2017
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. Cephalalgia · 2014
Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy. Cephalalgia · 2013
Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. Headache · 2011
A quantitative atlas of mitotic phosphorylation. Proc. Natl. Acad. Sci. U.S.A. · 2008
The DNA sequence and biological annotation of human chromosome 1. Nature · 2006
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann. Neurol. · 2004
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann. Neurol. · 2003
… and 7 more in the literature graph

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