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protein

Sodium/potassium-transporting ATPase subunit alpha-2

aka Na(+)/K(+) ATPase alpha-2 subunit

ATP1A2
protein:P50993disease:adad:direction:up

Gene

ATP1A2

Organism

Homo sapiens(9606)

Length

1020 aa

Mass

112,265 Da

AI summarysource-grounded · cited inline
claude-haiku-4-5-20251001

ATP1A2 encodes the alpha-2 subunit of the sodium/potassium-transporting ATPase, a catalytic component that hydrolyzes ATP and exchanges sodium and potassium ions across the plasma membrane. This ion exchange establishes the electrochemical gradient essential for active nutrient transport and cellular excitability (UniProt: P50993).

The protein is widely expressed and maintains critical functions in neuronal and glial physiology. UniProt documents ATP1A2 associations with several neurological conditions, including familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood 1 (AHC1), and developmental and epileptic encephalopathy 98 (DEE98), all linked to ATP1A2 mutations that disrupt ion homeostasis and neuronal function.

ATP1A2 is tagged for Alzheimer's Disease relevance in this dataset. Chaparral AD proteomics data indicate upregulation in human post-mortem AD brain tissue compared to age-matched controls, with a mean log2 fold-change of 0.87 across examined subcellular fractions. This elevation may reflect compensatory responses to neuronal dysfunction or altered ion homeostasis characteristic of AD neuropathology.

Generated from the curated entity record below. May contain errors — verify against source links.

Proteomics Evidence · AD

↑ Up in AD

P3

not detected

P2

not detected

S2

+0.869

S3

not detected

Mean log₂FC across detected fractions: +0.8695 (1 of 4 fractions detected)

Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.

Related Publications

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Function

This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients

Disease associations

  • Migraine, familial hemiplegic, 2FHM2

    A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.

  • Alternating hemiplegia of childhood 1AHC1

    A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.

  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic faciesFARIMPD

    An autosomal recessive disease characterized by fetal akinesia, and generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features. Malformations of cortical development are seen on brain imaging, most commonly polymicrogyria or other gyral anomalies. Death usually occurs in infancy.

  • Developmental and epileptic encephalopathy 98DEE98

    A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE98 is an autosomal dominant form characterized by onset of seizures in the first decade.

Sources

Last updated 5/8/2026, 6:28:10 AM