ATP1A3

Summary

ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3, HGNC:801) is a protein-coding gene on chromosome 19q13.2, encoding Sodium/potassium-transporting ATPase subunit alpha-3 (P13637). 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.

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 478 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ATP1A3-associated neurological disorder (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 1,385 total — 78 pathogenic, 78 likely-pathogenic
• Phenotypes (HPO): 171
• Druggable target: yes — 5 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_152296

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:801
Approved symbol	ATP1A3
Name	ATPase Na+/K+ transporting subunit alpha 3
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000105409
Ensembl biotype	protein_coding
OMIM	182350
Entrez	478

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 11 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 1 non_stop_decay

ENST00000441343, ENST00000465007, ENST00000468774, ENST00000473086, ENST00000485672, ENST00000543770, ENST00000545399, ENST00000602133, ENST00000636197, ENST00000636258, ENST00000636282, ENST00000637406, ENST00000645448, ENST00000648268, ENST00000890880, ENST00000890882, ENST00000890884, ENST00000919566, ENST00000948333

RefSeq mRNA: 3 — MANE Select: NM_152296 NM_001256213, NM_001256214, NM_152296

CCDS: CCDS12594, CCDS58663, CCDS58664

Canonical transcript exons

ENST00000648268 — 23 exons

Exon	Start	End
ENSE00000708751	41978606	41978798
ENSE00000708752	41981502	41981636
ENSE00000708753	41981722	41981831
ENSE00000842524	41978151	41978326
ENSE00001163976	41966582	41966965
ENSE00002207840	41985864	41985998
ENSE00002253027	41981908	41982106
ENSE00002308140	41985306	41985423
ENSE00002533538	41984918	41985186
ENSE00003114810	41986116	41986229
ENSE00003137812	41987936	41988139
ENSE00003458677	41977936	41978072
ENSE00003472033	41975629	41975797
ENSE00003497693	41970388	41970542
ENSE00003508831	41976416	41976566
ENSE00003570158	41968785	41968915
ENSE00003584725	41988318	41988377
ENSE00003607143	41970185	41970308
ENSE00003621069	41967662	41967763
ENSE00003625885	41967249	41967340
ENSE00003637548	41969435	41969580
ENSE00003682596	41988476	41988562
ENSE00003839338	41994071	41994230

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 99.59.

FANTOM5 (CAGE): breadth broad, TPM avg 40.2958 / max 2523.3475, expressed in 653 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181124	37.4789	636
181123	2.2795	198
181120	0.1211	65
181122	0.1042	63
181121	0.0866	51
181119	0.0862	40
181118	0.0784	39
181115	0.0611	33

Top tissues by expression

132 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
superior frontal gyrus	UBERON:0002661	99.59	gold quality
primary visual cortex	UBERON:0002436	99.30	gold quality
cortical plate	UBERON:0005343	99.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.95	gold quality
cerebellum	UBERON:0002037	98.88	gold quality
cerebellar cortex	UBERON:0002129	98.87	gold quality
cerebellar hemisphere	UBERON:0002245	98.86	gold quality
prefrontal cortex	UBERON:0000451	98.78	gold quality
frontal cortex	UBERON:0001870	98.74	gold quality
apex of heart	UBERON:0002098	98.72	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.67	gold quality
right frontal lobe	UBERON:0002810	98.55	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.49	gold quality
hypothalamus	UBERON:0001898	98.38	gold quality
cerebral cortex	UBERON:0000956	98.25	gold quality
anterior cingulate cortex	UBERON:0009835	98.12	gold quality
Ammon’s horn	UBERON:0001954	97.32	gold quality
temporal lobe	UBERON:0001871	97.27	gold quality
amygdala	UBERON:0001876	97.23	gold quality
nucleus accumbens	UBERON:0001882	97.14	gold quality
heart left ventricle	UBERON:0002084	97.02	gold quality
right atrium auricular region	UBERON:0006631	96.78	gold quality
brain	UBERON:0000955	96.64	gold quality
substantia nigra	UBERON:0002038	95.69	gold quality
putamen	UBERON:0001874	95.67	gold quality
caudate nucleus	UBERON:0001873	95.61	gold quality
ganglionic eminence	UBERON:0004023	94.13	gold quality
left testis	UBERON:0004533	91.00	gold quality
right testis	UBERON:0004534	90.98	gold quality
heart	UBERON:0000948	90.79	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	40.54
E-GEOD-137537	yes	15.24
E-GEOD-84465	yes	7.08
E-GEOD-93593	no	12.19
E-ANND-3	no	2.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFYB, NRF1, SP1, SP3, SP4, SPI1, TCF3

miRNA regulators (miRDB)

50 targeting ATP1A3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-4260	98.78	65.37	848
HSA-MIR-6885-5P	98.71	64.33	902
HSA-MIR-198	98.70	67.32	920
HSA-MIR-1227-5P	98.65	65.32	1549

Literature-anchored findings (GeneRIF, showing 40)

• abundance in placenta and myometrium was significantly decreased in women in active labor (PMID:12634653)
• These mutations impair enzyme activity or stability. This finding implicates the Na+/K+ pump, a crucial protein responsible for the electrochemical gradient across the cell membrane, in dystonia and parkinsonism. (PMID:15260953)
• A minimal promoter region of approx. 100 bp upstream of the major transcription start site contains the cognate DNA sites for the transcription factors Sp1/3/4, NF-Y,& a half-CRE (cAMP-response element)-like element that binds a still unknown protein. (PMID:15462673)
• Elevated Na+ -K+ -ATPase activity postexercise may contribute to reduced fatigue after training. (PMID:17446412)
• The Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na(+)/K(+) -ATPase alpha3 subunit (ATP1A3). (PMID:17516473)
• We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na(+)/K(+)-ATPase alpha3 subunit gene (ATP1A3). (PMID:17595045)
• The human sural nerve shows a specific localization of the Na+,K+-ATPase alpha3-isoform in the Schmidt-Lanterman incisures of Schwann cells in addition to its localization in axonal membranes. (PMID:18184478)
• Several mutations in alpha3 have been identified that link the specific function of the Na+,K+-ATPase to the pathophysiology of neurological diseases such as rapid-onset dystonia parkinsonism and familial hemiplegic migraine type 2 (PMID:18957371)
• Significant nominal association with bipolar disooder was observed for single Single Nucleotide Polymorphism(rs919390) in the gene of ATP1A3. (PMID:19058785)
• C-terminal of ATP1A3 plays a crucial role in regulating the sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. (PMID:19351654)
• Cardiac glycosides show distinct isoform specific affinities and different affinity profiles to Na(+),K(+)-ATPase isoforms which have different subcellular localizations in human cardiomyocytes. (PMID:19751721)
• Rapid-onset dystonia parkinsonism mutation of the neuron-specific alpha3-isoform of Na(+), K(+)-ATPase is associated with a selective defect in the handling of Na(+) (PMID:20576601)
• A common ATP1A3 genomic variation may represent a susceptibility factor for the risk for antipsychotic-induced parkinsonism in an allele-dependent manner. (PMID:21072501)
• Na+/K+-ATPase alpha3 might serve as a therapeutic target for bufalin, and its expression status may help predict sensitivity of hepatocellular carcinoma cells to bufalin treatment. (PMID:21181095)
• Retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis, membrane association is severely impaired in the absence of ATP1A3 and ATP1B2. (PMID:21196491)
• There was overexpression of the alpha1 or alpha3 NaK subunits in more than half of the medulloblastomas. (PMID:21498719)
• An interaction between agrin and alpha3-Na+K+-ATPase is of functional importance in newly generated neurons in the adult olfactory bulb. (PMID:22423096)
• This work identifies de novo ATP1A3 mutations as the primary cause of alternating hemiplagia of childhood and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in ATP1A3. (PMID:22842232)
• Mutation analysis of the ATP1A3 gene in patients who met clinical criteria. (PMID:22850527)
• rapid-onset dystonia-Parkinsonism (RDP) is described in children under age 4 years; study reports new clinical features of delayed motor development, hypotonia, and ataxia in 2 young children with mutations (R756H and D923N) in the ATP1A3 gene (PMID:22924536)
• Heterozygous de novo mutations of ATP1A3 were identified in all Japanese patients with alternating hemiplegia of childhood (PMID:23409136)
• the ATP1A3mutation is not the sole determinant of clinical expression, implying that genetic, epigenetic, and environmental factors play an important role in the clinical expression of ATP1A3-related disease (PMID:23483595)
• Our results provide validation for missense mutations in Na+,K+-ATPase alpha3 as a cause of Alternating hemiplegia of childhood, and highlight Myshkin mice as a starting point for the exploration of disease mechanisms and novel treatments in AHC. (PMID:23527305)
• The episodic dyskinesia as a clinical hallmark, was recently found to be caused by heterozygous de novo mutations in the ATP1A3 gene. (PMID:23963607)
• Patients in a Danish pediatric cohort with alternating hemiplegia of childhood reveal no detectable ATP1A3 mutation and are less severely affected. (PMID:24100174)
• Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease (PMID:24356962)
• The Glu815Lys genotype of ATP1A3 appears to be associated with the most severe phenotype of alternating hemiplegia of childhood. (PMID:24431296)
• Impaired cognitive function may be a manifestation of ATP1A3 mutation and Rapid-onset dystonia-parkinsonism (PMID:24436111)
• study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome (PMID:24468074)
• patients with alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism constitute clinical prototypes in a continuous phenotypic spectrum of ATP1A3-related disorders. (PMID:24523486)
• This reiew showed that ATP1A4 mutation association with rapid-onset dystonia parkinsonism and Alternating hemiplegia of childhood. (PMID:24739246)
• De novo mutations were detected in 100% of 16 AHC patients. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients, G2893A in 2, and C2781G, G2893C and C2411T in one patient each. (PMID:24768197)
• ATP1A3 is the major pathogenic gene of AHC in Chinese patients. (PMID:24842602)
• This study identified ATP1A3 mutations in 10 alternating hemiplegia of childhood and response to Ketogenic Diet treatment. (PMID:24996492)
• nvestigated a large dystonia family from New Zealand in which only females were affected; found a novel, likely disease-causing, three base-pair deletion (c.443_445delGAG, p.Ser148del) in ATP1A3 in this family by combining genome and exome sequencing (PMID:25359261)
• This study demonstrated that the ATP1A3 protein was altered in auditory cortex patient with schizophreia. (PMID:25433904)
• Review of the phenotypic spectrum of ATP1A3-related neurological disorders in children (PMID:25447930)
• The rsults of this study indicate the mutations cause severe phenotypesd of ATP1A3-related disorder spectrum that include catastrophic early life epilepsy, episodic apnea, and postnatal microcephaly. (PMID:25656163)
• Report tumor cell sensitivity to cardiac glycosides depends on pattern of expression of alpha1-, alpha2-, or alpha3-isoforms of Na-K-ATPase. (PMID:25994790)
• This study further expands the number and spectrum of ATP1A3 mutations associated with Alternating Hemiplegia of Childhood and confirms a more deleterious effect of the E815K mutation on selected neurologic outcomes. (PMID:25996915)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Atp1a3	ENSMUSG00000040907
rattus_norvegicus	Atp1a3	ENSRNOG00000020263
drosophila_melanogaster	CG45062	FBGN0266432
drosophila_melanogaster	CG45063	FBGN0266433
caenorhabditis_elegans		WBGENE00001137

Paralogs (21): ATP2C1 (ENSG00000017260), ATP1A2 (ENSG00000018625), ATP2B4 (ENSG00000058668), ATP2C2 (ENSG00000064270), ATP2B3 (ENSG00000067842), ATP2B1 (ENSG00000070961), ATP2A3 (ENSG00000074370), ATP12A (ENSG00000075673), ATP4A (ENSG00000105675), ATP13A1 (ENSG00000105726), ATP7B (ENSG00000123191), ATP13A4 (ENSG00000127249), ATP1A4 (ENSG00000132681), ATP13A3 (ENSG00000133657), ATP2B2 (ENSG00000157087), ATP13A2 (ENSG00000159363), ATP1A1 (ENSG00000163399), ATP7A (ENSG00000165240), ATP2A2 (ENSG00000174437), ATP13A5 (ENSG00000187527), ATP2A1 (ENSG00000196296)

Protein

Protein identifiers

Sodium/potassium-transporting ATPase subunit alpha-3 — P13637 (reviewed: P13637)

Alternative names: Na(+)/K(+) ATPase alpha(III) subunit, Sodium pump subunit alpha-3

All UniProt accessions (4): P13637, A0A0A0MT26, M0QXF2, M0R116

UniProt curated annotations — full annotation on UniProt →

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 ions, providing the energy for active transport of various nutrients.

Subunit / interactions. The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit. Interacts with regulatory subunit FXYD1.

Subcellular location. Cell membrane.

Disease relevance. Dystonia 12 (DYT12) [MIM:128235] An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. The disease is caused by variants affecting the gene represented in this entry. Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] 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. The disease is caused by variants affecting the gene represented in this entry. Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338] An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. The disease is caused by variants affecting the gene represented in this entry. Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] 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. DEE99 is an autosomal dominant form characterized by onset of seizures in early childhood. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
P13637-1	1	yes
P13637-2	2
P13637-3	3

RefSeq proteins (3): NP_001243142, NP_001243143, NP_689509* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001757	P_typ_ATPase	Family
IPR004014	ATPase_P-typ_cation-transptr_N	Domain
IPR005775	P-type_ATPase_IIC	Family
IPR006068	ATPase_P-typ_cation-transptr_C	Domain
IPR008250	ATPase_P-typ_transduc_dom_A_sf	Homologous_superfamily
IPR018303	ATPase_P-typ_P_site	PTM
IPR023214	HAD_sf	Homologous_superfamily
IPR023298	ATPase_P-typ_TM_dom_sf	Homologous_superfamily
IPR023299	ATPase_P-typ_cyto_dom_N	Homologous_superfamily
IPR036412	HAD-like_sf	Homologous_superfamily
IPR044492	P_typ_ATPase_HD_dom	Domain
IPR050510	Cation_transp_ATPase_P-type	Family
IPR059000	ATPase_P-type_domA	Domain

Pfam: PF00122, PF00689, PF00690, PF13246

Catalyzed reactions (Rhea), 1 shown:

• K(+)(out) + Na(+)(in) + ATP + H2O = K(+)(in) + Na(+)(out) + ADP + phosphate + H(+) (RHEA:18353)

UniProt features (192 total): helix 48, sequence variant 46, strand 37, sequence conflict 13, turn 12, topological domain 11, transmembrane region 10, modified residue 7, region of interest 2, binding site 2, splice variant 2, chain 1, active site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
8D3V	ELECTRON MICROSCOPY	3.4
8D3W	ELECTRON MICROSCOPY	3.5
8D3U	ELECTRON MICROSCOPY	3.7
8D3Y	ELECTRON MICROSCOPY	3.9
8D3X	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13637-F1	88.94	0.62

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 366 (4-aspartylphosphate intermediate)

Ligand- & substrate-binding residues (2): 707; 711

Post-translational modifications (7): 37, 56, 218, 265, 442, 548, 933

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-5578775	Ion homeostasis
R-HSA-936837	Ion transport by P-type ATPases
R-HSA-9679191	Potential therapeutics for SARS
R-HSA-1643685	Disease
R-HSA-382551	Transport of small molecules
R-HSA-397014	Muscle contraction
R-HSA-5576891	Cardiac conduction
R-HSA-5663205	Infectious disease
R-HSA-9679506	SARS-CoV Infections
R-HSA-9824446	Viral Infection Pathways
R-HSA-983712	Ion channel transport

MSigDB gene sets: 497 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_TRANSMEMBRANE_ELECTROCHEMICAL_GRADIENT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, BENPORATH_ES_WITH_H3K27ME3, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GCANCTGNY_MYOD_Q6, GOBP_POTASSIUM_ION_HOMEOSTASIS, TGACCTY_ERR1_Q2, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GGGTGGRR_PAX4_03, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS

GO Biological Process (18): intracellular sodium ion homeostasis (GO:0006883), intracellular potassium ion homeostasis (GO:0030007), sodium ion export across plasma membrane (GO:0036376), regulation of resting membrane potential (GO:0060075), cellular response to steroid hormone stimulus (GO:0071383), cell communication by electrical coupling involved in cardiac conduction (GO:0086064), proton transmembrane transport (GO:1902600), response to glycoside (GO:1903416), cellular response to amyloid-beta (GO:1904646), neuron projection maintenance (GO:1990535), potassium ion import across plasma membrane (GO:1990573), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), sodium ion transport (GO:0006814), establishment or maintenance of transmembrane electrochemical gradient (GO:0010248), intracellular monoatomic cation homeostasis (GO:0030003), transmembrane transport (GO:0055085), potassium ion transmembrane transport (GO:0071805)

GO Molecular Function (11): amyloid-beta binding (GO:0001540), P-type sodium:potassium-exchanging transporter activity (GO:0005391), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), metal ion binding (GO:0046872), protein-folding chaperone binding (GO:0051087), steroid hormone binding (GO:1990239), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), P-type potassium transmembrane transporter activity (GO:0008556)

GO Cellular Component (14): photoreceptor inner segment (GO:0001917), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), sodium:potassium-exchanging ATPase complex (GO:0005890), membrane (GO:0016020), axon (GO:0030424), organelle membrane (GO:0031090), neuronal cell body membrane (GO:0032809), neuronal cell body (GO:0043025), synapse (GO:0045202), photoreceptor inner segment membrane (GO:0060342), neuron to neuron synapse (GO:0098984), extracellular vesicle (GO:1903561)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Cardiac conduction	1
Ion channel transport	1
SARS-CoV Infections	1
Muscle contraction	1
Disease	1
Viral Infection Pathways	1
Infectious disease	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular monoatomic cation homeostasis	2
monoatomic cation transmembrane transport	2
transport	2
metal ion transport	2
cellular anatomical structure	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
membrane	2
sodium ion homeostasis	1
potassium ion homeostasis	1
sodium ion transmembrane transport	1
export across plasma membrane	1
regulation of membrane potential	1
cellular response to hormone stimulus	1
response to steroid hormone	1
cellular response to lipid	1
cell communication by electrical coupling	1
cardiac conduction	1
cell communication involved in cardiac conduction	1
response to oxygen-containing compound	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
response to amyloid-beta	1
neuron projection organization	1
potassium ion transmembrane transport	1
inorganic cation import across plasma membrane	1
monoatomic ion transmembrane transport	1
intracellular monoatomic ion homeostasis	1
monoatomic cation homeostasis	1
cellular process	1
potassium ion transport	1
peptide binding	1
P-type sodium transporter activity	1
P-type potassium transmembrane transporter activity	1
establishment or maintenance of transmembrane electrochemical gradient	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1

Protein interactions and networks

STRING

3364 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP1A3	ATP1B1	P05026	922
ATP1A3	FXYD2	P54710	885
ATP1A3	ATP1B3	P54709	883
ATP1A3	ATP1B2	P14415	801
ATP1A3	KCNJ5	P48544	785
ATP1A3	ATP1A2	P50993	737
ATP1A3	CACNA1D	Q01668	732
ATP1A3	TOR1A	O14656	713
ATP1A3	CYP11B2	P19099	667
ATP1A3	INO80	Q9ULG1	651
ATP1A3	THAP1	Q9NVV9	622
ATP1A3	PRRT2	Q7Z6L0	608
ATP1A3	SGCE	O43556	602
ATP1A3	AMY2B	P19961	599
ATP1A3	SLC2A1	P11166	599

IntAct

251 interactions, top by confidence:

A	B	Type	Score
RXYLT1	FKTN	psi-mi:“MI:0914”(association)	0.710
B3GNT3	PGRMC1	psi-mi:“MI:0914”(association)	0.670
TOMM22	XRCC3	psi-mi:“MI:0914”(association)	0.640
ATP1A3	BOK	psi-mi:“MI:0915”(physical association)	0.560
ATP1A3	CAMK2A	psi-mi:“MI:0915”(physical association)	0.560
EYA3	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
SKIL	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
TCF3	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
TP53BP1	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
ZNF20	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
ESRP1	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
VAC14	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
SPIRE1	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
NPFFR1	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
SYNC	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
PNMA5	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
ASCL4	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
ZBTB49	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
INCA1	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560
LIAT1	ATP1A3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (261): ATP1A3 (Affinity Capture-RNA), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS)

ESM2 similar proteins: A2VDL6, D2WKD8, P04074, P05023, P05024, P05025, P06685, P06686, P06687, P07038, P09572, P09626, P13607, P13637, P17326, P18907, P19156, P20648, P24797, P24798, P25489, P27112, P28774, P30714, P35317, P50993, P50996, P50997, P54707, P54708, P58312, Q08DA1, Q13733, Q5RCD8, Q5RDR3, Q64392, Q64436, Q64541, Q6PIC6, Q6PIE5

Diamond homologs: A0A143ZZK9, A2VDL6, A7L9Z8, B9QMJ0, D2WKD8, O08462, O22218, O34431, O59868, O64806, O75185, O77696, O81108, P04074, P05023, P05024, P05025, P06685, P06686, P06687, P09572, P09626, P0ABB8, P0ABB9, P13586, P13607, P13637, P17326, P18398, P18596, P18907, P19156, P20648, P24797, P24798, P25489, P27112, P28774, P30714, P35317

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ATP1A3	“down-regulates quantity”	sodium(1+)	relocalization
ATP1A3	“up-regulates quantity”	potassium(1+)	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 216 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
phospholipase C-activating G protein-coupled receptor signaling pathway	10	6.7×	3e-03
G protein-coupled receptor signaling pathway	18	3.3×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1385 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	78
Likely pathogenic	78
Uncertain significance	510
Likely benign	540
Benign	43

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1064657	NC_000019.10:g.41952441_42266625del	Pathogenic
1064658	NC_000019.10:g.41983952_42247520del	Pathogenic
1069208	NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser)	Pathogenic
1075560	NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)	Pathogenic
1187017	NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg)	Pathogenic
1200751	NM_152296.5(ATP1A3):c.2567TCT[1] (p.Phe857del)	Pathogenic
1251987	NM_152296.5(ATP1A3):c.1165G>A (p.Glu389Lys)	Pathogenic
1251996	NM_152296.5(ATP1A3):c.2407G>A (p.Gly803Ser)	Pathogenic
1264343	NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr)	Pathogenic
1264345	NM_152296.5(ATP1A3):c.1115del (p.Thr372fs)	Pathogenic
12909	NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)	Pathogenic
12910	NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr)	Pathogenic
12913	NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu)	Pathogenic
12914	NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr)	Pathogenic
12915	NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)	Pathogenic
1321204	NM_152296.5(ATP1A3):c.875T>G (p.Leu292Arg)	Pathogenic
1321205	NM_152296.5(ATP1A3):c.947G>T (p.Gly316Val)	Pathogenic
1321206	NM_152296.5(ATP1A3):c.1081T>C (p.Ser361Pro)	Pathogenic
1357866	NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter)	Pathogenic
139579	NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg)	Pathogenic
1414742	NM_152296.5(ATP1A3):c.2652dup (p.Val885fs)	Pathogenic
1432131	NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg)	Pathogenic
156238	NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	Pathogenic
161121	NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr)	Pathogenic
161122	NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)	Pathogenic
161124	NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn)	Pathogenic
161129	NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys)	Pathogenic
161131	NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala)	Pathogenic
161133	NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys)	Pathogenic
161138	NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)	Pathogenic

SpliceAI

3249 predictions. Top by Δscore:

Variant	Effect	Δscore
19:41967242:C:CA	donor_gain	1.0000
19:41967247:AC:A	donor_gain	1.0000
19:41967247:ACCC:A	donor_gain	1.0000
19:41967248:CC:C	donor_gain	1.0000
19:41967248:CCCC:C	donor_gain	1.0000
19:41967250:C:CA	donor_gain	1.0000
19:41967258:T:A	donor_gain	1.0000
19:41967659:CA:C	donor_loss	1.0000
19:41967660:A:AC	donor_gain	1.0000
19:41967660:ACTTG:A	donor_loss	1.0000
19:41967661:C:CC	donor_gain	1.0000
19:41967661:CT:C	donor_gain	1.0000
19:41967661:CTT:C	donor_gain	1.0000
19:41967661:CTTG:C	donor_gain	1.0000
19:41967661:CTTGA:C	donor_gain	1.0000
19:41967762:TC:T	acceptor_gain	1.0000
19:41967763:CC:C	acceptor_gain	1.0000
19:41967764:C:CC	acceptor_gain	1.0000
19:41967765:T:A	acceptor_loss	1.0000
19:41968783:A:AC	donor_gain	1.0000
19:41968784:C:CC	donor_gain	1.0000
19:41968786:T:TA	donor_gain	1.0000
19:41968788:ATGC:A	donor_gain	1.0000
19:41968791:C:CA	donor_gain	1.0000
19:41968807:AGTT:A	donor_gain	1.0000
19:41968810:T:A	donor_gain	1.0000
19:41969433:A:AC	donor_gain	1.0000
19:41969433:AC:A	donor_gain	1.0000
19:41969433:ACC:A	donor_gain	1.0000
19:41969434:C:CG	donor_gain	1.0000

AlphaMissense

6681 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:41969483:C:A	W880C	1.000
19:41969483:C:G	W880C	1.000
19:41969485:A:G	W880R	1.000
19:41969485:A:T	W880R	1.000
19:41970247:C:A	R827M	1.000
19:41970392:T:A	D805V	1.000
19:41970393:C:G	D805H	1.000
19:41970401:A:G	L802P	1.000
19:41970411:A:G	C799R	1.000
19:41970413:A:G	L798P	1.000
19:41970413:A:T	L798H	1.000
19:41970466:G:C	F780L	1.000
19:41970466:G:T	F780L	1.000
19:41970468:A:G	F780L	1.000
19:41970470:G:T	P779H	1.000
19:41970497:A:G	L770P	1.000
19:41970517:C:A	K763N	1.000
19:41970517:C:G	K763N	1.000
19:41970521:A:G	L762P	1.000
19:41970529:G:C	F759L	1.000
19:41970529:G:T	F759L	1.000
19:41970531:A:G	F759L	1.000
19:41970539:C:G	R756P	1.000
19:41970540:G:T	R756S	1.000
19:41975629:C:A	G755C	1.000
19:41975629:C:G	G755R	1.000
19:41975640:C:T	G751E	1.000
19:41975641:C:A	G751W	1.000
19:41975641:C:G	G751R	1.000
19:41975641:C:T	G751R	1.000

dbSNP variants (sampled 300 via entrez): RS1000060590 (19:41993528 C>T), RS1000433145 (19:41992985 C>A), RS1000836569 (19:41986812 A>G), RS1000908596 (19:41987061 T>A), RS1001026833 (19:41969230 C>A), RS1001034516 (19:41973623 G>A), RS1001286789 (19:41971033 C>T), RS1001345331 (19:41980312 C>A), RS1001497971 (19:41989539 G>A,T), RS1001684700 (19:41983358 G>A), RS1001705001 (19:41976801 T>A,C), RS1001758866 (19:41976995 A>G), RS1001834746 (19:41988224 C>A,G,T), RS1002009582 (19:41983036 T>C,G), RS1002038661 (19:41974903 C>A,T)

Disease associations

OMIM: gene MIM:182350 | disease phenotypes: MIM:128235, MIM:614820, MIM:601338, MIM:619606, MIM:121200, MIM:104290

GenCC curated gene-disease

Disease	Classification	Inheritance
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Definitive	Autosomal dominant
alternating hemiplegia of childhood 2	Definitive	Autosomal dominant
ATP1A3-associated neurological disorder	Definitive	Autosomal dominant
dystonia 12	Strong	Autosomal dominant
developmental and epileptic encephalopathy 99	Strong	Autosomal dominant
encephalopathy, acute, infection-induced	Moderate	Autosomal dominant
alternating hemiplegia of childhood	Supportive	Autosomal dominant
complex neurodevelopmental disorder	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
ATP1A3-associated neurological disorder	Definitive	AD

Mondo (21): dystonia 12 (MONDO:0007496), alternating hemiplegia of childhood 2 (MONDO:0013900), cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (MONDO:0011038), developmental and epileptic encephalopathy 99 (MONDO:0030473), syndromic craniosynostosis (MONDO:0015338), syndromic intellectual disability (MONDO:0000508), seizures, benign familial neonatal, 1 (MONDO:0007365), ATP1A3-associated neurological disorder (MONDO:0700002), undetermined early-onset epileptic encephalopathy (MONDO:0018614), alternating hemiplegia of childhood (MONDO:0016241), oculogyric crisis (MONDO:0000483), dystonic disorder (MONDO:0003441), hemiplegia (MONDO:0001170), epilepsy (MONDO:0005027), intellectual disability (MONDO:0001071)

Orphanet (9): Rapid-onset dystonia-parkinsonism (Orphanet:71517), Alternating hemiplegia of childhood (Orphanet:2131), Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (Orphanet:1171), Syndromic craniosynostosis (Orphanet:139393), Rare genetic syndromic intellectual disability (Orphanet:183763), Self-limited neonatal epilepsy (Orphanet:1949), Non-specific early-onset epileptic encephalopathy (Orphanet:442835), Hereditary ataxia (Orphanet:183518), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

171 total (30 of 171 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000012	Urinary urgency
HP:0000252	Microcephaly
HP:0000297	Facial hypotonia
HP:0000338	Hypomimic face
HP:0000348	High forehead
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000408	Progressive sensorineural hearing impairment
HP:0000473	Torticollis
HP:0000494	Downslanted palpebral fissures
HP:0000496	Abnormality of eye movement
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000529	Progressive visual loss
HP:0000546	Retinal degeneration
HP:0000565	Esotropia
HP:0000572	Visual loss
HP:0000577	Exotropia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000657	Oculomotor apraxia
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000712	Emotional lability
HP:0000716	Depression
HP:0000717	Autism
HP:0000718	Aggressive behavior

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010143_27	Meat-related diet	3.000000e-09
GCST010703_14	Brain morphology (MOSTest)	1.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (13)

Descriptor	Name	Tree numbers
D020821	Dystonic Disorders	C10.228.662.300
D004827	Epilepsy	C10.228.140.490
D004933	Esophageal Atresia	C06.198.330; C06.405.117.260; C16.131.314.330
D017219	Gastric Outlet Obstruction	C06.405.748.340
D006429	Hemiplegia	C10.597.622.295; C23.888.592.636.312
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009759	Nystagmus, Pathologic	C10.292.562.675; C11.590.400
D011707	Pyloric Stenosis	C06.405.748.340.690
C536589	Alternating hemiplegia of childhood (supp.)
C535351	CAPOS syndrome (supp.)
C538001	Dystonia 12 (supp.)
C567743	Epilepsy, Benign Neonatal, 1, And-Or Myokymia (supp.)
C531684	Hereditary spinal ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2095186 (PROTEIN COMPLEX GROUP)

Molecules with ChEMBL bioactivity

5 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 160,774 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1503	OMEPRAZOLE	4	52,284
CHEMBL1751	DIGOXIN	4	67,342
CHEMBL254219	DIGITOXIN	4	16,757
CHEMBL480	LANSOPRAZOLE	4	24,317
CHEMBL2068971	ROSTAFUROXIN	2	74

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Na⁺/K⁺-ATPases

ChEMBL bioactivities

212 potent at pChembl≥5 of 264 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.52	IC50	3	nM	CHEMBL2092909
8.32	IC50	4.79	nM	CHEMBL1651648
8.17	IC50	6.79	nM	CHEMBL1651648
8.15	IC50	7	nM	CHEMBL2092738
8.15	IC50	7.04	nM	CHEMBL1651624
8.10	IC50	8	nM	CHEMBL3085467
8.10	IC50	8	nM	CHEMBL3085497
8.10	IC50	8	nM	DIGITOXIGENIN
8.10	IC50	8	nM	DIGITOXIN
8.05	IC50	9	nM	CHEMBL3085468
7.98	IC50	10.5	nM	CHEMBL3349024
7.97	IC50	10.7	nM	CHEMBL3350144
7.92	IC50	12	nM	CHEMBL2069010
7.80	IC50	16	nM	CHEMBL2068887
7.80	IC50	16	nM	CHEMBL3349024
7.75	IC50	17.8	nM	CHEMBL1159613
7.70	IC50	20	nM	DIGITOXIGENIN
7.70	IC50	20	nM	CHEMBL2068894
7.70	IC50	20	nM	CHEMBL2068887
7.66	IC50	22	nM	BUFALIN
7.60	IC50	25	nM	CHEMBL2068888
7.55	IC50	28.2	nM	CHEMBL3350144
7.52	IC50	30	nM	CHEMBL2068896
7.52	IC50	30	nM	CHEMBL2068909
7.41	IC50	38.9	nM	CHEMBL3349024
7.40	IC50	40	nM	CHEMBL126930
7.40	IC50	40	nM	CHEMBL2069036
7.35	IC50	45	nM	CHEMBL2069112
7.30	IC50	50	nM	CHEMBL2069053
7.22	IC50	60	nM	CHEMBL2069110
7.22	IC50	60.3	nM	CHEMBL3349024
7.22	IC50	60	nM	CHEMBL2115485
7.20	IC50	63	nM	DIGITOXIGENIN
7.19	IC50	64.5	nM	CHEMBL1159613
7.16	IC50	70	nM	CHEMBL3085496
7.12	IC50	75	nM	CHEMBL2092910
7.10	IC50	80	nM	CHEMBL2068983
7.10	IC50	80	nM	CHEMBL2069040
7.06	IC50	88	nM	CHEMBL2068949
7.06	IC50	87	nM	CHEMBL3265172
7.03	IC50	93.3	nM	CHEMBL3349024
7.00	IC50	100	nM	CHEMBL2068885
7.00	IC50	100	nM	CHEMBL333694
7.00	IC50	100	nM	CHEMBL126063
7.00	IC50	99	nM	CHEMBL2069062
7.00	IC50	100	nM	CHEMBL2069059
6.92	IC50	120	nM	DIGITOXIGENIN
6.89	IC50	130	nM	CHEMBL125966
6.89	IC50	130	nM	CHEMBL124276
6.89	IC50	129	nM	CHEMBL3349024

PubChem BioAssay actives

210 with measured affinity, of 373 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
3-[(3S,8R,9S,10S,13R,14R,17S)-14-hydroxy-10,13-dimethyl-3-[[(2R,3S,4S,5R,6S)-3,4,5,6-tetrahydroxyoxan-2-yl]methoxy]-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	49025: Inhibition of [3H]ouabain binding to Na/K ATP-ase in dog heart muscle	ic50	0.0030	uM
3-[(3S,5R,8R,9S,10S,13R,14S,17R)-14-hydroxy-10,13-dimethyl-3-[(2R,3R,4R,5R,6S)-3,4,5-trihydroxy-6-methyloxan-2-yl]oxy-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	146845: Inhibition of hog kidney Na+, K+-dependent ATPase	ic50	0.0048	uM
3-[(3S,5R,8R,9S,10S,13R,14S,17R)-3-[(2R,4S,5S,6R)-4,5-dihydroxy-6-methyloxan-2-yl]oxy-14-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	146845: Inhibition of hog kidney Na+, K+-dependent ATPase	ic50	0.0070	uM
3-[(3S,8R,9S,10S,13R,14R,17R)-14-hydroxy-10,13-dimethyl-3-[[(2R,3S,4S,5R,6S)-3,4,5,6-tetrahydroxyoxan-2-yl]methoxy]-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	49025: Inhibition of [3H]ouabain binding to Na/K ATP-ase in dog heart muscle	ic50	0.0070	uM
3-[(3S,5R,8R,9S,10S,13R,14S,17R)-3,14-dihydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	56911: Inhibition of [3H]- ouabain binding to digitalis receptor	ic50	0.0080	uM
3-[(3S,5R,8R,9S,10S,13R,14S,17R)-3-[(2R,4S,5S,6R)-5-[(2S,4S,5S,6R)-5-[(2S,4S,5S,6R)-4,5-dihydroxy-6-methyloxan-2-yl]oxy-4-hydroxy-6-methyloxan-2-yl]oxy-4-hydroxy-6-methyloxan-2-yl]oxy-14-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	56911: Inhibition of [3H]- ouabain binding to digitalis receptor	ic50	0.0080	uM
3-[(3S,5S,8R,9S,10S,13R,14R,17R)-3-[[(2S,3R,4R,6S)-3,4-dihydroxy-6-[[(2S,3R,4R,6S)-3,4,6-trihydroxyoxan-2-yl]methoxy]oxan-2-yl]methoxy]-14-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	49025: Inhibition of [3H]ouabain binding to Na/K ATP-ase in dog heart muscle	ic50	0.0080	uM
3-[(3S,5S,8R,9S,10S,13R,14R,17R)-3-[[(2S,3R,4R,6S)-6-[[(2S,3R,4R,6S)-3,4-dihydroxy-6-[[(2S,3R,4R,6S)-3,4,6-trihydroxyoxan-2-yl]methoxy]oxan-2-yl]methoxy]-3,4-dihydroxyoxan-2-yl]methoxy]-14-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	49025: Inhibition of [3H]ouabain binding to Na/K ATP-ase in dog heart muscle	ic50	0.0080	uM
3-[(3S,5S,8R,9S,10S,13R,14R,17R)-14-hydroxy-10,13-dimethyl-3-[[(2S,3R,4R,6S)-3,4,6-trihydroxyoxan-2-yl]methoxy]-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	49025: Inhibition of [3H]ouabain binding to Na/K ATP-ase in dog heart muscle	ic50	0.0090	uM
3-[(3S,5R,8R,9S,10S,13R,14S,17R)-14-hydroxy-10,13-dimethyl-3-[(2S,3R,4S,5S,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	146845: Inhibition of hog kidney Na+, K+-dependent ATPase	ic50	0.0105	uM
3-[(3S,5R,8R,9S,10S,13R,14S,17R)-14-hydroxy-10,13-dimethyl-3-[(2R,3S,4S,5S,6S)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	146845: Inhibition of hog kidney Na+, K+-dependent ATPase	ic50	0.0107	uM
(2R,4S,5R)-2-[[(3S,5R,8R,9S,10S,13R,14S,17S)-14-hydroxy-10,13-dimethyl-17-(nitromethyl)-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-3-yl]oxy]-6-methyloxane-3,4,5-triol	56911: Inhibition of [3H]- ouabain binding to digitalis receptor	ic50	0.0120	uM
(3S,5R,8R,9S,10S,13R,14S,17R)-17-[(E,3E)-3-(2-aminoethoxyimino)prop-1-enyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146853: 50% displacement of the specific [3H]ouabain binding from the dog kidney Na+/K+ ATPase	ic50	0.0160	uM
3-[(13R)-14-hydroxy-10,13-dimethyl-3-[(2S,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	146845: Inhibition of hog kidney Na+, K+-dependent ATPase	ic50	0.0178	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(E)-3-aminopropoxyiminomethyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol;oxalic acid	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.0200	uM
5-[(3S,5R,8R,9S,10S,13R,14S,17R)-3,14-dihydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]pyran-2-one	1941870: Inhibition of NA+/K+ ATPase (unknown origin) activity	ic50	0.0220	uM
(3S,5R,8R,9S,10S,13R,14S,17R)-17-[(E,3E)-3-[2-(dimethylamino)ethoxyimino]prop-1-enyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146853: 50% displacement of the specific [3H]ouabain binding from the dog kidney Na+/K+ ATPase	ic50	0.0250	uM
(3S,5R,8R,9S,10S,13R,14S,17R)-17-[(E,3E)-3-[2-(dimethylamino)ethoxyimino]prop-1-enyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol;oxalic acid	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.0300	uM
(3S,5R,8R,9S,10S,13R,14S,17R)-17-[(E,3E)-3-(2-aminoethoxyimino)-2-methylprop-1-enyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol;(E)-but-2-enedioic acid	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.0300	uM
(2R,4bS,7S,8aR)-2-[(1E,3S)-1-(2-aminoethoxyimino)pentan-3-yl]-7-hydroxy-2,4b-dimethyl-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-1-one	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.0400	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(E)-2-(dimethylamino)ethoxyiminomethyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146853: 50% displacement of the specific [3H]ouabain binding from the dog kidney Na+/K+ ATPase	ic50	0.0400	uM
(2R,4S,5R)-2-[[(3S,5R,8R,9S,10S,13R,14S,17R)-14-hydroxy-10,13-dimethyl-17-(2-nitroethyl)-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-3-yl]oxy]-6-methyloxane-3,4,5-triol	56911: Inhibition of [3H]- ouabain binding to digitalis receptor	ic50	0.0450	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(2E)-2-(2-aminoethoxyimino)ethyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.0500	uM
(E)-but-2-enedioic acid;(3S,5R,8R,9S,10S,13R,14S,17R)-17-[(E,3E)-3-[2-(dimethylamino)ethoxyimino]-2-methylprop-1-enyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.0600	uM
6-[[(3S,8R,9S,10S,13R,14R,17S)-14-hydroxy-17-[(1S)-1-hydroxyethyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-3-yl]oxy]-2-(hydroxymethyl)oxane-3,4-diol	146854: Compound is evaluated for inhibition of specific binding of [3H]ouabain to membranes from dog heart	ic50	0.0600	uM
3-[(5R,8R,9S,10S,13R,14R,17R)-14-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	49025: Inhibition of [3H]ouabain binding to Na/K ATP-ase in dog heart muscle	ic50	0.0700	uM
(2R,3R,4R,5R,6R)-6-[[(3R)-14-hydroxy-17-(1-hydroxyethyl)-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-3-yl]oxymethyl]oxane-2,3,4,5-tetrol	49025: Inhibition of [3H]ouabain binding to Na/K ATP-ase in dog heart muscle	ic50	0.0750	uM
(3S,5R,8R,9S,10S,13R,14S,17R)-17-[(1E,3E)-6-aminohexa-1,3-dienyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.0800	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(3Z)-3-(2-aminoethoxyimino)propyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.0800	uM
3-[(3S,5R,8R,9S,10S,13R,14S,17R)-14-hydroxy-10,13-dimethyl-3-[(2R,3R,4R,5R,6S)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one	146845: Inhibition of hog kidney Na+, K+-dependent ATPase	ic50	0.0870	uM
(3S,4R,6R)-6-[[(3S,5R,8R,9S,10S,13R,14S,17S)-14-hydroxy-10,13-dimethyl-17-(nitromethyl)-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-3-yl]oxy]-2-methyloxane-3,4-diol	56911: Inhibition of [3H]- ouabain binding to digitalis receptor	ic50	0.0880	uM
(2R,4S,5R)-2-[[(3S,5R,8R,9S,10S,13R,14S,17S)-17-(aminomethyl)-14-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-3-yl]oxy]-6-methyloxane-3,4,5-triol;hydrochloride	56911: Inhibition of [3H]- ouabain binding to digitalis receptor	ic50	0.0990	uM
(2R,4bS,7S,8aR)-2-[(1E,3S)-1-[2-(dimethylamino)ethoxyimino]pentan-3-yl]-7-hydroxy-2,4b-dimethyl-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-1-one	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.1000	uM
(2R,4bS,7S,8aR)-2-[(2S,4E)-4-(2-aminoethoxyimino)butan-2-yl]-7-hydroxy-2,4b-dimethyl-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-1-one	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.1000	uM
2-[(E)-[(3S,5R,8R,9S,10S,13R,14S,17S)-3,14-dihydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]methylideneamino]guanidine;hydrochloride	146856: Displacement of [3H]ouabain from dog kidney Na+/K+ ATPase	ic50	0.1000	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(3Z)-3-[2-(dimethylamino)ethoxyimino]propyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol;oxalic acid	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.1000	uM
(2R,4bS,7S,8aR)-2-[(2S,4E)-4-[2-(dimethylamino)ethoxyimino]butan-2-yl]-7-hydroxy-2,4b-dimethyl-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-1-one	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.1300	uM
2-(dimethylamino)ethyl (E)-4-[(2R,4bS,7S,8aR)-7-hydroxy-2,4b-dimethyl-1-oxo-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-2-yl]hex-2-enoate	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.1300	uM
1-[(3R)-14-hydroxy-10,13-dimethyl-3-[[(2R,3R,4R,5R,6R)-3,4,5,6-tetrahydroxyoxan-2-yl]methoxy]-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]ethanone	49025: Inhibition of [3H]ouabain binding to Na/K ATP-ase in dog heart muscle	ic50	0.1500	uM
Digoxin	1970782: Inhibition of NA+/K+ ATPase (unknown origin) activity incubated for 15 mins in presence of ATP by ADP-Glo assay	ic50	0.1600	uM
(2R,4bS,7S,8aS)-2-[(1E,3S)-1-(2-aminoethoxyimino)pentan-3-yl]-7-hydroxy-2,4b-dimethyl-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-1-one	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.1600	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(E)-2-aminoethoxyiminomethyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol;(E)-but-2-enedioic acid	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.1600	uM
2-[(E)-1-[(3S,5R,8R,9S,10S,13R,14S,17S)-3,14-dihydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]ethylideneamino]guanidine	146856: Displacement of [3H]ouabain from dog kidney Na+/K+ ATPase	ic50	0.1995	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(E)-(4,5-dihydro-1H-imidazol-2-ylhydrazinylidene)methyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146856: Displacement of [3H]ouabain from dog kidney Na+/K+ ATPase	ic50	0.1995	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(2E)-2-(3-aminopropoxyimino)ethyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.2000	uM
3-[(1R)-1-[(2R,4bS,7S,8aR)-7-hydroxy-2,4b-dimethyl-1-oxo-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-2-yl]propyl]-2H-furan-5-one	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.2000	uM
(2R,4bS,7S,8aR)-2-[(1E,3S)-1-(2-aminoethoxyimino)hexan-3-yl]-7-hydroxy-2,4b-dimethyl-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-1-one	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.2000	uM
(3S,5R,8R,9S,10S,13R,14S,17R)-17-[(E,3E)-3-(3-aminopropoxyimino)-2-methylprop-1-enyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol;oxalic acid	146858: In vitro inhibitory concentration against dog kidney Na+/K+ ATPase	ic50	0.2000	uM
(3S,5R,8R,9S,10S,13R,14S,17S)-17-[(2E)-2-[2-(dimethylamino)ethoxyimino]ethyl]-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,14-diol	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.2500	uM
2-(dimethylamino)ethyl (E,4R)-4-[(2R,4bS,7S,8aR)-7-hydroxy-2,4b-dimethyl-1-oxo-4,4a,5,6,7,8,8a,9,10,10a-decahydro-3H-phenanthren-2-yl]hex-2-enoate	146843: Binding affinity towards Na+,K+ -ATPase isolated from dog kidney.	ic50	0.2500	uM

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Ouabain	affects binding, increases expression, decreases reaction	3
sodium arsenite	affects methylation, increases expression	2
Doxorubicin	decreases expression	2
Tretinoin	decreases expression	2
beauvericin	affects cotreatment, decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
sulforaphane	decreases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
enniatins	affects cotreatment, decreases expression	1
licochalcone B	increases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	decreases expression	1
Bortezomib	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases expression	1
Carmustine	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Potassium Chloride	affects binding, decreases reaction	1
Urethane	increases expression	1
Zinc	decreases expression	1
Okadaic Acid	increases expression	1
S-Nitrosoglutathione	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

ChEMBL screening assays

45 unique, capped per target: 45 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1691887	Binding	Inhibition of human Na+/ K+ ATPase at up to 10 uM	Lersivirine, a nonnucleoside reverse transcriptase inhibitor with activity against drug-resistant human immunodeficiency virus type 1. — Antimicrob Agents Chemother

Cellosaurus cell lines

6 cell lines: 5 cancer cell line, 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1RP	Abcam U-87MG ATP1A3 KO	Cancer cell line	Male
CVCL_SE11	HAP1 ATP1A3 (-) 1	Cancer cell line	Male
CVCL_UY42	NH50125	Finite cell line	Female
CVCL_XL70	HAP1 ATP1A3 (-) 2	Cancer cell line	Male
CVCL_XL71	HAP1 ATP1A3 (-) 3	Cancer cell line	Male
CVCL_XL72	HAP1 ATP1A3 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

299 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00142259	PHASE4	UNKNOWN	Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02263417	PHASE4	COMPLETED	A Randomized Controlled Trail Comparing Subthalamic and Pallidal Deep Brain Stimulation for Dystonia
NCT05260125	PHASE4	RECRUITING	Comparison of the Efficacy of Ultrasound Guided vs Non-guided Suprascapular Nerve Block Treatment in Stroke Patients
NCT00169403	PHASE3	UNKNOWN	Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia
NCT03232320	PHASE3	COMPLETED	Meditoxin® Treatment in Patients With Cervical Dystonia
NCT00223808	PHASE3	COMPLETED	Assisted Movement Neuro-rehabilitation: VA Multi-site Clinical Trial
NCT00276185	PHASE3	UNKNOWN	HEMITOX : Effect of Botulinum Toxin Injections on Motor and Functional Ability of Upper Limb in Adults at Earlier Phases of Spastic Hemiplegia After Stroke
NCT00632528	PHASE3	COMPLETED	MEOPA to Improve Physical Therapy Results After Multilevel Surgery
NCT01799304	PHASE3	COMPLETED	Static and Dynamic Postural Stability in Cerebral Palsy Children
NCT03555825	PHASE3	COMPLETED	Burke-Hocoma Efficiency Study
NCT02408354	PHASE2	COMPLETED	Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of Childhood
NCT06248645	PHASE2	COMPLETED	Oxygen as an Acute Treatment in Alternating Hemiplegia of Childhood
NCT00001784	PHASE2	COMPLETED	Mexiletine for the Treatment of Focal Dystonia
NCT00105430	PHASE2	COMPLETED	Deep Brain Stimulation for Cervical Dystonia
NCT00106782	PHASE2	COMPLETED	Transcranial Electrical Polarization to Treat Focal Hand Dystonia
NCT00122044	PHASE2	COMPLETED	Childhood Hypertonia of Central Origin: A Trial of Anticholinergic Treatment Effects
NCT00169338	PHASE2	COMPLETED	Pallidal Stimulation in Patients With Post-anoxic and Idiopathic Dystonia
NCT00331669	PHASE2	UNKNOWN	Efficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia
NCT02107261	PHASE2	COMPLETED	Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician’s Hand
NCT02470325	PHASE2	UNKNOWN	The Effects of Cannabis on Dystonia and Spasticity on Pediatric Patients
NCT05027997	PHASE2	COMPLETED	Exploratory Study of Dipraglurant (ADX48621) for the Treatment of Patients With Blepharospasm
NCT06412653	PHASE2	COMPLETED	Prospective Pilot Trial to Address Feasibility and Safety of Oral Zinc in GNAO1 Associated Disorders
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