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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
Chromosome 19 Β· 19q13.2
NCBI Gene: 478Ensembl: ENSG00000105409.19HGNC: HGNC:801UniProt: M0R116
155PubMed Papers
24Diseases
6Drugs
171Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
P-type sodium:potassium-exchanging transporter activityneuronal cell bodyprotein-folding chaperone bindingprotein bindingalternating hemiplegia of childhood 2dystonia 12Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing lossdevelopmental and epileptic encephalopathy 99
✦AI Summary

ATP1A3 encodes the alpha-3 subunit of the Na+/K+-ATPase, a catalytic enzyme that hydrolyzes ATP to pump sodium and potassium ions across the plasma membrane, establishing essential electrochemical gradients for neuronal function 1. This sodium-potassium gradient drives active transport of nutrients and maintains neuronal excitability, with ATP1A3 particularly abundant in neuron-derived extracellular vesicles 2. Mutations in ATP1A3 cause a broad neurological disease spectrum characterized by paroxysmal events, hyperkinesia, cognitive impairment, and neuropsychiatric symptoms 3. The most well-defined conditions include alternating hemiplegia of childhood (70% of cases), rapid-onset dystonia-parkinsonism, and cerebellar ataxia with sensorineural hearing loss 4. Heterozygous mutations are also associated with early infantile epileptic encephalopathy, often featuring polymicrogyria and severe developmental impairment, indicating that impaired Na+/K+-ATPase function disrupts normal brain morphogenesis 1. ATP1A3-related hyperkinetic movement disorders frequently present with generalized chorea and dystonia in early childhood 5. Additionally, ATP1A3 variants contribute to auditory neuropathy and infantile migrating focal seizures 6, 7. Clinically, prime editing approaches have successfully corrected ATP1A3 mutations in mouse models, rescuing ATPase activity and improving paroxysmal spells, motor deficits, and lifespan, offering potential therapeutic strategies 8.

Sources cited
1
ATP1A3 mutations cause severe developmental and epileptic encephalopathy with polymicrogyria through impaired Na+/K+-ATPase pump function and disrupted brain morphogenesis
PMID: 33880529
2
ATP1A3 is abundantly expressed in neuron-derived extracellular vesicles and serves as a reliable biomarker for neurological diseases including Alzheimer's disease
PMID: 37713494
3
ATP1A3 mutations cause heterogeneous neurological phenotypes characterized by paroxysmal events, hyperkinesia, cognitive impairment, and neuropsychiatric symptoms
PMID: 36192182
4
ATP1A3 mutations cause rapid-onset dystonia-parkinsonism and are associated with dystonia-plus syndromes
PMID: 20590807
5
ATP1A3-related hyperkinetic movement disorders frequently present with generalized chorea and dystonia in early childhood
PMID: 36054588
6
ATP1A3 variants are identified in patients with auditory neuropathy across both infant and non-infant groups
PMID: 38456936
7
ATP1A3 mutations are a novel cause of infantile epilepsy with migrating focal seizures
PMID: 31618474
8
Prime editing corrects ATP1A3 mutations in mouse models, restoring ATPase activity and rescuing paroxysmal spells, motor defects, and cognitive deficits
PMID: 40695277
Disease Associationsβ“˜24
alternating hemiplegia of childhood 2Open Targets
0.84Strong
dystonia 12Open Targets
0.82Strong
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing lossOpen Targets
0.80Strong
developmental and epileptic encephalopathy 99Open Targets
0.76Strong
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeOpen Targets
0.76Strong
Rapid-onset dystonia-parkinsonismOpen Targets
0.69Moderate
alternating hemiplegia of childhoodOpen Targets
0.62Moderate
ATP1A3-associated neurological disorderOpen Targets
0.60Moderate
congestive heart failureOpen Targets
0.60Moderate
atrial fibrillationOpen Targets
0.59Moderate
heart failureOpen Targets
0.57Moderate
cardiovascular diseaseOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
SeizureOpen Targets
0.51Moderate
ArrhythmiaOpen Targets
0.50Moderate
epilepsyOpen Targets
0.46Moderate
hemiplegiaOpen Targets
0.45Moderate
undetermined early-onset epileptic encephalopathyOpen Targets
0.44Moderate
polymicrogyriaOpen Targets
0.44Moderate
Alternating hemiplegia of childhood 2UniProt
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing lossUniProt
Developmental and epileptic encephalopathy 99UniProt
Dystonia 12UniProt
Pathogenic Variants171
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)Pathogenic
Dystonia 12|not provided|Alternating hemiplegia of childhood 2|Inborn genetic diseases|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|ATP1A3-associated neurological disorder|Developmental and epileptic encephalopathy 99|ATP1A3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 756
NM_152296.5(ATP1A3):c.823G>C (p.Ala275Pro)Likely pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 275
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)Pathogenic
Alternating hemiplegia of childhood 2|not provided|Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12|Inborn genetic diseases|Oculogyric crisis;Dystonic disorder;Tetraparesis|ATP1A3-related disorder|Developmental and epileptic encephalopathy 99|Developmental and epileptic encephalopathy 99;Alternating hemiplegia of childhood 2;Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 801
NM_152296.5(ATP1A3):c.358-1G>ALikely pathogenic
ATP1A3-associated neurological disorder|Dystonia 12
β˜…β˜…β˜†β˜†2025
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)Pathogenic
Dystonia 12|ATP1A3-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 316
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)Pathogenic
Juvenile onset psychosis|not provided|Dystonia 12|Alternating hemiplegia of childhood 2|ATP1A3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 129
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp)Pathogenic
not provided|Dystonia 12|Developmental and epileptic encephalopathy 99
β˜…β˜…β˜†β˜†2025β†’ Residue 867
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)Pathogenic
Alternating hemiplegia of childhood 2|not provided|Dystonia 12|Oculogyric crisis;Global developmental delay;Hemiplegia|Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|not specified|Inborn genetic diseases|Developmental and epileptic encephalopathy 99|Seizure;Dyskinesia;Dystonic disorder;Neurodevelopmental delay|Seizure
β˜…β˜…β˜†β˜†2025β†’ Residue 815
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)Pathogenic
Alternating hemiplegia of childhood 2|Epilepsy;Hemiplegia|not provided|Dystonia 12|Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|ATP1A3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 947
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)Pathogenic
Dystonia 12|Seizure|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 706
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)Pathogenic
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12
β˜…β˜…β˜†β˜†2025β†’ Residue 742
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)Pathogenic
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12|Inborn genetic diseases|Alternating hemiplegia of childhood 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 818
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg)Pathogenic
not provided|Dystonia 12
β˜…β˜…β˜†β˜†2025β†’ Residue 326
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)Pathogenic
Alternating hemiplegia of childhood 2|not provided|Dystonia 12
β˜…β˜…β˜†β˜†2025β†’ Residue 773
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del)Pathogenic
not provided|Dystonia 12|ATP1A3-associated neurological disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 137
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)Pathogenic
not provided|Dystonia 12|Inborn genetic diseases|Developmental and epileptic encephalopathy 99|ATP1A3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 775
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)Pathogenic
Dystonia 12|Developmental and epileptic encephalopathy 99
β˜…β˜…β˜†β˜†2025β†’ Residue 919
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)Pathogenic
Dystonia 12|Alternating hemiplegia of childhood 2|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12;Alternating hemiplegia of childhood 2|not provided|ATP1A3-associated neurological disorder|Seizure|ATP1A3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 923
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)Pathogenic
Dystonia 12|not provided|Alternating hemiplegia of childhood 2|ATP1A3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 613
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)Pathogenic
not provided|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12
β˜…β˜…β˜†β˜†2025β†’ Residue 323
View on ClinVar β†—
Drug Targets6
ACETYLDIGITOXINApproved
Sodium/potassium-transporting ATPase inhibitor
cardiovascular disease
DESLANOSIDEApproved
Sodium/potassium-transporting ATPase inhibitor
cardiovascular disease
DIGITOXINApproved
Sodium/potassium-transporting ATPase inhibitor
cardiovascular disease
DIGOXINApproved
Sodium/potassium-transporting ATPase inhibitor
heart failure
ISTAROXIMEPhase II
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 activator
heart disease
LANATOSIDE CApproved
Sodium/potassium-transporting ATPase inhibitor
cardiovascular disease
Related Genes
MAPK3Protein interaction99%PRKACAProtein interaction93%PRKACBProtein interaction93%PRKACGProtein interaction93%SLC9A1Protein interaction92%PRKG1Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Heart
13%
Bone Marrow
1%
Liver
0%
Lung
0%
Ovary
0%
Gene Interaction Network
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ATP1A3MAPK3PRKACAPRKACBPRKACGSLC9A1PRKG1
PROTEIN STRUCTURE
Preparing viewer…
PDB8D3V Β· 3.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.17Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.17]
RankingsWhere ATP1A3 stands among ~20K protein-coding genes
  • #2,904of 20,598
    Most Researched155 Β· top quartile
  • #292of 1,025
    FDA-Approved Drug Targets5
  • #434of 5,498
    Most Pathogenic Variants171 Β· top 10%
  • #305of 17,882
    Most Constrained (LOEUF)0.17 Β· top 5%
Genes detectedATP1A3
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
PMID: 36192182
1.00
2
ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.
PMID: 37713494
Sci Adv Β· 2023
0.90
3
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
PMID: 33880529
Brain Β· 2021
0.80
4
PMID: 39712145
Tremor Other Hyperkinet Mov (N Y) Β· 2024
0.72
5
In vivo prime editing rescues alternating hemiplegia of childhood in mice.
PMID: 40695277
Cell Β· 2025
0.70