ATP4A

Summary

ATP4A (ATPase H+/K+ transporting subunit alpha, HGNC:819) is a protein-coding gene on chromosome 19q13.12, encoding Potassium-transporting ATPase alpha chain 1 (P20648). The catalytic subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells.

The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase.

Source: NCBI Gene 495 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial gastric type 1 neuroendocrine tumor (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 271 total — 1 pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes — 5 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000704

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:819
Approved symbol	ATP4A
Name	ATPase H+/K+ transporting subunit alpha
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	ATP6A
Ensembl gene	ENSG00000105675
Ensembl biotype	protein_coding
OMIM	137216
Entrez	495

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 retained_intron, 1 protein_coding, 1 nonsense_mediated_decay

ENST00000262623, ENST00000590916, ENST00000592131, ENST00000592767

RefSeq mRNA: 1 — MANE Select: NM_000704 NM_000704

CCDS: CCDS12467

Canonical transcript exons

ENST00000262623 — 22 exons

Exon	Start	End
ENSE00000700018	35563209	35563268
ENSE00000700024	35560363	35560615
ENSE00000700026	35559805	35560073
ENSE00000700029	35558993	35559191
ENSE00000700031	35558577	35558686
ENSE00000700033	35558362	35558496
ENSE00000700035	35557655	35557847
ENSE00000700038	35556913	35557088
ENSE00000862797	35563384	35563527
ENSE00001357162	35563618	35563658
ENSE00002469081	35555166	35555334
ENSE00002782172	35550031	35550643
ENSE00003460301	35551447	35551580
ENSE00003488553	35562435	35562638
ENSE00003528078	35551010	35551111
ENSE00003604855	35553037	35553182
ENSE00003646661	35560819	35560932
ENSE00003647321	35554922	35555076
ENSE00003649717	35550834	35550925
ENSE00003690077	35553706	35553829
ENSE00003694934	35555440	35555590
ENSE00003701592	35555676	35555812

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 97.76.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2526 / max 459.2284, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180537	0.2526	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardia of stomach	UBERON:0001162	97.76	gold quality
pylorus	UBERON:0001166	90.14	gold quality
body of stomach	UBERON:0001161	88.91	gold quality
stomach	UBERON:0000945	87.65	gold quality
fundus of stomach	UBERON:0001160	86.48	gold quality
right adrenal gland	UBERON:0001233	83.87	gold quality
right adrenal gland cortex	UBERON:0035827	83.13	gold quality
left adrenal gland	UBERON:0001234	81.35	gold quality
left adrenal gland cortex	UBERON:0035825	80.27	gold quality
adrenal cortex	UBERON:0001235	80.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.34	gold quality
adrenal gland	UBERON:0002369	78.72	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.04	gold quality
cerebellar hemisphere	UBERON:0002245	77.37	gold quality
cerebellar cortex	UBERON:0002129	77.15	gold quality
body of pancreas	UBERON:0001150	75.83	gold quality
cerebellum	UBERON:0002037	75.41	gold quality
pancreas	UBERON:0001264	68.66	gold quality
right frontal lobe	UBERON:0002810	63.63	gold quality
endometrium epithelium	UBERON:0004811	61.28	gold quality
Brodmann (1909) area 10	UBERON:0013541	61.05	gold quality
tongue squamous epithelium	UBERON:0006919	59.24	gold quality
secondary oocyte	CL:0000655	58.95	gold quality
ileal mucosa	UBERON:0000331	58.95	silver quality
gluteal muscle	UBERON:0002000	58.67	gold quality
cerebellar vermis	UBERON:0004720	58.44	gold quality
islet of Langerhans	UBERON:0000006	57.81	gold quality
left lobe of thyroid gland	UBERON:0001120	57.08	gold quality
right lobe of thyroid gland	UBERON:0001119	57.02	gold quality
Brodmann (1909) area 9	UBERON:0013540	56.94	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.23

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI2

miRNA regulators (miRDB)

8 targeting ATP4A, 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-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-3189-3P	96.80	66.34	896

Literature-anchored findings (GeneRIF, showing 11)

• Gastric H+/K+-ATPase activities are not associated with H pylori status in patients with chronic gastritis. (PMID:15962365)
• study concludes that IL-1beta upregulates HKalpha transcription by inducing Sp1 binding to HKalpha Sp1 & NF-kappaB sites & that Helicobacter pylori perturbation of HKalpha expression is independent of Sp1-mediated basal HKalpha transcription (PMID:18772363)
• cigarette smoke extract may cause an increase in the amount and activity of H,K-ATPase and smokers’ susceptibility to development of peptic ulcer (PMID:19705497)
• Downregulation of ATP4A gene is associated with gastric cancer. (PMID:23317218)
• ATP4A are found in nearly one-third of children with type 1 diabetes and more common among females. In this cross-sectional analysis, Hp infection was not associated with autoimmunity against parietal cells. (PMID:24773566)
• Homozygous missense mutation in the 14th exon of the ATP4A gene (c.2107C>T) is responsible for an atypical familial type I gastric neuroendocrine tumour. (PMID:25678551)
• In conclusion, patients homozygous for an inactivating ATP4A mutation develop gastric ECL-cell carcinoids in their 3rd or 4th decade. (PMID:27150581)
• the generation and characterization of a knockin mouse model for the ATP4a(R703C) mutation to better understand the tumorigenesis process. (PMID:27491072)
• ATP4A antibodies were present in a significant proportion of children with type 1 diabetes (T1D). Higher ATP4A levels in T1D children are associated with lower, yet still fitting within the normal range, levels of vitamin B12, and ferritin. (PMID:28401620)
• Heterozygous mutations in the ATP4A and PTH1R genes were identified in a family with type I gastric neuroendocrine tumors plus hypothyroidism and rheumatoid arthritis (PMID:28474257)
• Type IV Gastric Carcinoids in the Stomach Caused by ATP4A Gene Mutations. (PMID:31401365)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
mus_musculus	Atp4a	ENSMUSG00000005553
rattus_norvegicus	Atp4a	ENSRNOG00000020985
drosophila_melanogaster	anne	FBGN0052000
drosophila_melanogaster	SPoCk	FBGN0052451
drosophila_melanogaster	CG45062	FBGN0266432
drosophila_melanogaster	CG45063	FBGN0266433
caenorhabditis_elegans		WBGENE00000834
caenorhabditis_elegans	pmr-1	WBGENE00004063
caenorhabditis_elegans		WBGENE00012341
caenorhabditis_elegans		WBGENE00015338
caenorhabditis_elegans		WBGENE00015660

Paralogs (21): ATP2C1 (ENSG00000017260), ATP1A2 (ENSG00000018625), ATP2B4 (ENSG00000058668), ATP2C2 (ENSG00000064270), ATP2B3 (ENSG00000067842), ATP2B1 (ENSG00000070961), ATP2A3 (ENSG00000074370), ATP12A (ENSG00000075673), ATP1A3 (ENSG00000105409), 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

Potassium-transporting ATPase alpha chain 1 — P20648 (reviewed: P20648)

Alternative names: Gastric H(+)/K(+) ATPase subunit alpha, Proton pump

All UniProt accessions (3): A0A384MR29, P20648, M0R249

UniProt curated annotations — full annotation on UniProt →

Function. The catalytic subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Uses ATP as an energy source to pump H(+) ions to the gastric lumen while transporting K(+) ion from the lumen into the cell. Remarkably generates a million-fold proton gradient across the gastric parietal cell membrane, acidifying the gastric juice down to pH 1. Within a transport cycle, the transfer of a H(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing (E1) to outward-facing state (E2). The release of the H(+) ion in the stomach lumen is followed by binding of K(+) ion converting the pump conformation back to the E1 state.

Subunit / interactions. The gastric H(+)/K(+) ATPase pump is composed of the catalytic alpha subunit ATP4A and the regulatory beta subunit ATP4B. Interacts (via the P-domain) with ATP4B (via N-terminus); this interaction stabilizes the lumenal-open E2 conformation state and prevents the reverse reaction of the transport cycle.

Subcellular location. Apical cell membrane.

Tissue specificity. Expressed in gastric parietal cells (at protein level).

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

RefSeq proteins (1): NP_000695* (*=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
IPR015127	ATPase_P-typ_H/K-transp_N	Domain
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, PF08282, PF09040, PF13246

Enzyme classification (BRENDA):

• EC 7.2.2.19 — H+/K+-exchanging ATPase (BRENDA: 23 organisms, 73 substrates, 240 inhibitors, 15 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0245–1.2	5
K+	0.3–20	5
K+[SIDE 2]	0.4–5.5	3

Catalyzed reactions (Rhea), 1 shown:

• K(+)(out) + ATP + H2O + H(+)(in) = K(+)(in) + ADP + phosphate + 2 H(+)(out) (RHEA:22044)

UniProt features (43 total): topological domain 11, transmembrane region 10, binding site 10, modified residue 7, chain 1, region of interest 1, compositionally biased region 1, active site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20648-F1	88.70	0.67

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): 387 (4-aspartylphosphate intermediate)

Ligand- & substrate-binding residues (10): 340; 341; 343; 345; 387; 389; 728; 732; 797; 822

Post-translational modifications (7): 7, 10, 27, 463, 601, 840, 954

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-936837	Ion transport by P-type ATPases
R-HSA-382551	Transport of small molecules
R-HSA-983712	Ion channel transport

MSigDB gene sets: 137 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_TRANSMEMBRANE_ELECTROCHEMICAL_GRADIENT, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, MODULE_45, MODULE_64, GOBP_POTASSIUM_ION_HOMEOSTASIS, MODULE_16, CAGCTG_AP4_Q5, GOBP_MONOATOMIC_CATION_TRANSPORT, MODULE_118, MODULE_379, GOBP_INTRACELLULAR_POTASSIUM_ION_HOMEOSTASIS, GOBP_INTRACELLULAR_SODIUM_ION_HOMEOSTASIS, GOBP_SODIUM_ION_HOMEOSTASIS, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY

GO Biological Process (13): intracellular sodium ion homeostasis (GO:0006883), response to xenobiotic stimulus (GO:0009410), regulation of proton transport (GO:0010155), intracellular potassium ion homeostasis (GO:0030007), monoatomic ion transmembrane transport (GO:0034220), sodium ion export across plasma membrane (GO:0036376), pH reduction (GO:0045851), potassium ion transmembrane transport (GO:0071805), proton transmembrane transport (GO:1902600), potassium ion import across plasma membrane (GO:1990573), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)

GO Molecular Function (10): magnesium ion binding (GO:0000287), P-type sodium:potassium-exchanging transporter activity (GO:0005391), ATP binding (GO:0005524), P-type potassium:proton transporter activity (GO:0008900), ATP hydrolysis activity (GO:0016887), potassium ion binding (GO:0030955), nucleotide binding (GO:0000166), transporter activity (GO:0005215), P-type potassium transmembrane transporter activity (GO:0008556), metal ion binding (GO:0046872)

GO Cellular Component (5): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), potassium:proton exchanging ATPase complex (GO:0005889), apical plasma membrane (GO:0016324), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Ion channel transport	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
P-type potassium transmembrane transporter activity	2
sodium ion homeostasis	1
response to chemical	1
proton transmembrane transport	1
regulation of monoatomic cation transmembrane transport	1
potassium ion homeostasis	1
monoatomic ion transport	1
transmembrane transport	1
sodium ion transmembrane transport	1
export across plasma membrane	1
regulation of pH	1
potassium ion transport	1
potassium ion transmembrane transport	1
inorganic cation import across plasma membrane	1
transport	1
metal ion transport	1
monoatomic ion transmembrane transport	1
metal ion binding	1
P-type sodium transporter activity	1
establishment or maintenance of transmembrane electrochemical gradient	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
P-type proton-exporting transporter activity	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
alkali metal ion binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
potassium ion transmembrane transporter activity	1
P-type ion transporter activity	1
ATPase-coupled monoatomic cation transmembrane transporter activity	1
cation binding	1
membrane	1
cell periphery	1
cation-transporting ATPase complex	1
plasma membrane protein complex	1
apical part of cell	1

Protein interactions and networks

STRING

3276 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP4A	CYP2C19	P33259	945
ATP4A	GAST	P01350	934
ATP4A	TCIRG1	Q13488	923
ATP4A	ATP6V1B1	P15313	921
ATP4A	ATP6V0A4	Q9HBG4	902
ATP4A	ATP6V0A1	Q93050	886
ATP4A	HRH2	P25021	880
ATP4A	ATP6V0C	P27449	850
ATP4A	CLCN7	P51798	834
ATP4A	ATP6V0A2	Q9Y487	830
ATP4A	ATP6V1D	Q9Y5K8	828
ATP4A	ATP4B	P51164	822
ATP4A	CA2	P00918	797
ATP4A	ATP6V0E2	Q8NHE4	794
ATP4A	ALB	P02768	776

IntAct

30 interactions, top by confidence:

A	B	Type	Score
ATP1B1	ATP1A1	psi-mi:“MI:0914”(association)	0.910
LIPC	ATP4A	psi-mi:“MI:0914”(association)	0.530
ERO1B	ATP4A	psi-mi:“MI:0914”(association)	0.530
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
RRP7A	ATP4A	psi-mi:“MI:0914”(association)	0.530
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
NUFIP1	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.350
HAX1	GPM6B	psi-mi:“MI:0914”(association)	0.350
DGUOK	DNM1L	psi-mi:“MI:0914”(association)	0.350
CDCA8	DCLK1	psi-mi:“MI:0914”(association)	0.350
DNAAF2	DNM1L	psi-mi:“MI:0914”(association)	0.350
ARMC1	GNAO1	psi-mi:“MI:0914”(association)	0.350
RRP7A	MAPT	psi-mi:“MI:0914”(association)	0.350
KLK8	MT-ND1	psi-mi:“MI:0914”(association)	0.350
PA	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATP1A3	TMEM223	psi-mi:“MI:0914”(association)	0.350
GPM6A	KIF2A	psi-mi:“MI:0914”(association)	0.350
HAX1	DNM1L	psi-mi:“MI:0914”(association)	0.350
DGUOK	BIN1	psi-mi:“MI:0914”(association)	0.350
ARMC1	DCX	psi-mi:“MI:0914”(association)	0.350
ERO1B	HSPA5	psi-mi:“MI:0914”(association)	0.350
ATP1A3	EI24	psi-mi:“MI:0914”(association)	0.350
FECH	GTPBP10	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (134): ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Biochemical Activity), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ATP4A (Affinity Capture-MS)

ESM2 similar proteins: A1A4J6, D4ABB8, F1Q4S1, G5EBH1, O14072, O43520, O43861, O70228, O75110, P09626, P19156, P20648, P27112, P40527, P50996, P57792, P90747, P98195, P98196, P98197, P98198, P98199, Q10309, Q27533, Q3TYU2, Q4VNC1, Q4WYP6, Q5XF89, Q5XF90, Q5ZKB7, Q64436, Q6DFW5, Q8NB49, Q92126, Q93084, Q95JN5, Q9EPE9, Q9H7F0, Q9HD20, Q9LI83

Diamond homologs: A0A143ZZK9, A2VDL6, A7L9Z8, B9QMJ0, D2WKD8, O13397, O13398, O14983, O23087, O34431, O46674, O55143, O75185, O77696, P04074, P04191, P05023, P06685, P07038, P09572, P09626, P09627, P11507, P11607, P11718, P12522, P13585, P13586, P16615, P17326, P18596, P18907, P19156, P20431, P20647, P20648, P22189, P22700, P25489, P27112

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	172
Likely benign	56
Benign	37

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
812929	Single allele	Pathogenic

SpliceAI

3068 predictions. Top by Δscore:

Variant	Effect	Δscore
19:35550639:CCAGC:C	acceptor_gain	1.0000
19:35550640:CAGCC:C	acceptor_gain	1.0000
19:35550830:TCAC:T	donor_loss	1.0000
19:35550831:CACTC:C	donor_loss	1.0000
19:35550832:A:AC	donor_gain	1.0000
19:35550832:ACT:A	donor_gain	1.0000
19:35550832:ACTC:A	donor_gain	1.0000
19:35550832:ACTCC:A	donor_gain	1.0000
19:35550833:C:CA	donor_loss	1.0000
19:35550833:C:CC	donor_gain	1.0000
19:35550833:CT:C	donor_gain	1.0000
19:35550833:CTC:C	donor_gain	1.0000
19:35550833:CTCC:C	donor_gain	1.0000
19:35550833:CTCCC:C	donor_gain	1.0000
19:35550835:C:CA	donor_gain	1.0000
19:35550861:T:TA	donor_gain	1.0000
19:35551007:CA:C	donor_loss	1.0000
19:35551008:A:AC	donor_gain	1.0000
19:35551009:C:CC	donor_gain	1.0000
19:35551009:CCGA:C	donor_gain	1.0000
19:35551109:TTC:T	acceptor_gain	1.0000
19:35551110:TC:T	acceptor_gain	1.0000
19:35551111:CC:C	acceptor_gain	1.0000
19:35551112:C:CC	acceptor_gain	1.0000
19:35551112:C:CG	acceptor_loss	1.0000
19:35551118:G:C	acceptor_gain	1.0000
19:35551118:G:GC	acceptor_gain	1.0000
19:35551589:C:CT	acceptor_gain	1.0000
19:35551589:C:T	acceptor_gain	1.0000
19:35551590:A:T	acceptor_gain	1.0000

AlphaMissense

6779 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:35551524:G:C	S936R	1.000
19:35551524:G:T	S936R	1.000
19:35551526:T:G	S936R	1.000
19:35553085:C:A	W901C	1.000
19:35553085:C:G	W901C	1.000
19:35553087:A:G	W901R	1.000
19:35553087:A:T	W901R	1.000
19:35554947:A:T	L819H	1.000
19:35555055:A:G	L783P	1.000
19:35555063:G:C	F780L	1.000
19:35555063:G:T	F780L	1.000
19:35555065:A:G	F780L	1.000
19:35555073:C:G	R777P	1.000
19:35555166:C:A	G776C	1.000
19:35555166:C:G	G776R	1.000
19:35555194:A:C	F766L	1.000
19:35555194:A:T	F766L	1.000
19:35555195:A:C	F766C	1.000
19:35555195:A:G	F766S	1.000
19:35555196:A:G	F766L	1.000
19:35555201:T:A	D764V	1.000
19:35555201:T:G	D764A	1.000
19:35555202:C:G	D764H	1.000
19:35555210:A:G	L761P	1.000
19:35555210:A:T	L761Q	1.000
19:35555222:G:T	A757D	1.000
19:35555261:G:T	A744D	1.000
19:35555267:C:T	G742E	1.000
19:35555277:C:G	A739P	1.000
19:35555285:A:G	L736P	1.000

dbSNP variants (sampled 300 via entrez): RS1000061808 (19:35558182 G>C), RS1000178875 (19:35563804 CT>C), RS1000301004 (19:35561898 C>G,T), RS1000567200 (19:35550255 C>T), RS1000981780 (19:35554035 G>A), RS1001179583 (19:35556226 G>A), RS1001775978 (19:35555133 C>T), RS1001801135 (19:35563155 T>C,G), RS1002167025 (19:35559213 C>A), RS1002281664 (19:35558856 G>A,T), RS1002457033 (19:35553419 G>A), RS1002777851 (19:35553767 G>C), RS1002839769 (19:35556347 C>T), RS1003119328 (19:35550754 A>G), RS1003173382 (19:35557957 G>T)

Disease associations

OMIM: gene MIM:137216 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
familial gastric type 1 neuroendocrine tumor	Supportive	Autosomal recessive
gastric neuroendocrine neoplasm	Limited	Autosomal recessive

Mondo (3): dystonic disorder (MONDO:0003441), gastric neuroendocrine neoplasm (MONDO:0003111), familial gastric type 1 neuroendocrine tumor (MONDO:0018742)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001332	Dystonia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005991_47	Platelet count	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020821	Dystonic Disorders	C10.228.662.300

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2095173 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

5 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 169,080 (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
CHEMBL1502	PANTOPRAZOLE	4	14,689
CHEMBL1503	OMEPRAZOLE	4	52,284
CHEMBL1790041	RANITIDINE	4	30,599
CHEMBL30	CIMETIDINE	4	47,191
CHEMBL480	LANSOPRAZOLE	4	24,317

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

GtoPdb / IUPHAR curated pharmacology

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

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

Most potent curated ligand interactions (6 total), top 6:

Ligand	Action	Affinity	Parameter
ilaprazole	Inhibition	8.05	pIC50
zastaprazan	Inhibition	7.78	pIC50
vonoprazan	Inhibition	7.72	pIC50
linaprazan	Inhibition	6.5	pIC50
tegoprazan	Inhibition	6.28	pIC50
revaprazan	Inhibition	5.64	pIC50

Binding affinities (BindingDB)

111 measured of 111 human assays (111 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
5-[3-[3,5-dihydroxy-6-methyl-4-[3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxyoxan-2-yl]oxy-14-hydroxy-10,13-dimethyl-1,2,3,6,7,8,9,11,12,15,16,17-dodecahydrocyclopenta[a]phenanthren-17-yl]pyran-2-one	IC50	8.6 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
N-[2-(2,4-dimethoxyphenyl)ethyl]-2-[3,4-dimethyl-2-(4-methylphenyl)-7-oxopyrazolo[3,4-d]pyridazin-6-yl]propanamide	IC50	9.5 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
4-chloro-3-(2,3-dihydroindol-1-ylsulfonyl)-N-pyridin-4-ylbenzamide	IC50	11.9 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
7-[3,5-dihydroxy-2-(3-hydroxyoct-1-enyl)cyclopentyl]hept-5-enoic acid	IC50	13.3 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
3-[2-(ethylamino)-1-hydroxyethyl]phenol	IC50	14.1 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
2-[(3,4-difluorophenyl)sulfonylamino]-N-[4-(4-methoxyphenyl)-1,3-thiazol-2-yl]benzamide	IC50	17.8 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
methyl 1-[5-(isoquinolin-5-yloxymethyl)-1,2-oxazole-3-carbonyl]piperidine-2-carboxylate	IC50	18.4 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
[2-[2-(4-chlorophenyl)ethylamino]-2-oxoethyl] 1H-indazole-3-carboxylate	IC50	20.9 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
[2-[4-amino-1-methyl-3-(2-methylpropyl)-2,6-dioxopyrimidin-5-yl]-2-oxoethyl] (E)-3-phenylprop-2-enoate	IC50	24.5 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
6-bromo-3-[(3-chlorophenyl)methyl]-2-(furan-2-yl)-8-methylimidazo[1,2-a]pyridine	IC50	25.4 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
6-bromo-2-(furan-2-yl)-8-methyl-3-[[2-(trifluoromethyl)phenyl]methyl]imidazo[1,2-a]pyridine	IC50	25.7 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
[2,2-bis(prop-2-enyl)pyrrolidin-1-yl]-[5-[(5-chloro-3-pyridinyl)oxymethyl]-1,2-oxazol-3-yl]methanone	IC50	27.7 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
N-(4-chloro-3-morpholin-4-ylsulfonylphenyl)-3-phenylbutanamide	IC50	30.8 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
2-(6-phenylmethoxypurin-9-yl)-1-[4-[(2,4,6-trimethylphenyl)methyl]piperazin-1-yl]ethanone	IC50	30.9 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
N-[2-(2,5-dimethoxyphenyl)ethyl]-2-[3,4-dimethyl-2-(4-methylphenyl)-7-oxopyrazolo[3,4-d]pyridazin-6-yl]acetamide	IC50	33.8 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
[2-[(3-carbamoylthiophen-2-yl)amino]-2-oxoethyl] 2-naphthalen-1-ylacetate	IC50	34.4 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
(E)-N-(4-bromo-2-fluorophenyl)-3-[4-(diethylsulfamoyl)phenyl]prop-2-enamide	IC50	34.6 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
ethyl 2-[5-[2-methyl-1-[(6-methyl-2-oxo-1H-quinolin-3-yl)methyl-(thiophen-2-ylmethyl)amino]propyl]tetrazol-1-yl]acetate	IC50	35.2 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
4-(2-methylimidazo[1,2-a]pyridin-3-yl)-N-(3-methylphenyl)-1,3-thiazol-2-amine	IC50	35.9 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
N-[4-(3,4-dimethoxyphenyl)-1,3-thiazol-2-yl]-1-(5,6-dimethylthieno[2,3-d]pyrimidin-4-yl)piperidine-4-carboxamide	IC50	36 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
US20260001864, Compound 75	IC50	36.6 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
US20260001864, Compound 27	IC50	38.7 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
3-[3-[[2-(4-chlorophenoxy)acetyl]amino]phenyl]-7-[2-(4-nitrophenyl)acetyl]-1-oxa-2,7-diazaspiro[4.4]non-2-ene-8-carboxamide	IC50	41 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
2-amino-N-[(4-phenylphenyl)methyl]quinoline-3-carboxamide	IC50	41.3 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
3-methyl-2-[4-[[4-oxo-4-[[(4S,5R,12S)-1,5,9-trimethyl-11,14,15,16-tetraoxatetracyclo[10.3.1.04,13.08,13]hexadecan-10-yl]oxy]butanoyl]amino]butanoylamino]pentanoic acid	IC50	41.4 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
(E)-3-(4-bromophenyl)-1-(2-methyl-5,6,7,8-tetrahydroquinolin-3-yl)prop-2-en-1-one	IC50	43.4 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
N-[(3,4-dimethoxyphenyl)methyl]-3-pyridin-3-yl-1-benzofuran-7-carboxamide	IC50	46.3 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
ethyl 4-[[1-[[2-(4-ethylphenyl)-5-methyl-1,3-oxazol-4-yl]methyl]piperidine-3-carbonyl]amino]piperidine-1-carboxylate	IC50	48.4 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
2-[2-(1-hydroxycyclohexyl)ethynyl]-10-methylacridin-9-one	IC50	51.1 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
N-([1,3]dioxolo[4,5-f][1,3]benzothiazol-6-yl)-4-[methyl(oxolan-2-ylmethyl)sulfamoyl]benzamide	IC50	51.3 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
1-[(3-fluoro-4-methoxyphenyl)methyl]-N-(6-phenoxy-3-pyridinyl)piperidine-4-carboxamide	IC50	51.6 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
6-chloro-4-N-[2-(4-methylphenyl)ethyl]pyrimidine-4,5-diamine	IC50	55.3 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
5-benzyl-2-[4-[(2,3-dichlorophenyl)methyl]piperazin-1-yl]pyrimidine	IC50	55.3 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
[2-[(3-carbamoylthiophen-2-yl)amino]-2-oxoethyl] 3-(3,4,5-trimethoxyphenyl)propanoate	IC50	56.1 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
4-methyl-4-(phenylsulfanylmethyl)azetidin-2-one	IC50	56.6 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
13-hydroxy-6,14,26-trimethylspiro[2,5,11,17,24-pentaoxapentacyclo[23.2.1.03,9.04,6.09,26]octacosa-19,21-diene-27,2’-oxirane]-12,18,23-trione	IC50	58.5 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
4-[4-[(4-chlorophenyl)methyl]piperazin-1-yl]-1-[(4-methylphenyl)methyl]pyrazolo[5,4-d]pyrimidine	IC50	65.2 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
3,5,14-trihydroxy-13-methyl-17-(5-oxo-2H-furan-3-yl)-2,3,4,6,7,8,9,11,12,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthrene-10-carbaldehyde	IC50	65.9 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
3-(2-chlorophenyl)-N’-(3-fluorobenzoyl)-5-methyl-1,2-oxazole-4-carbohydrazide	IC50	66.7 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
2-[(2R,4S,5R)-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]-N-(4-phenoxyphenyl)-1,3-thiazole-4-carboxamide	IC50	72.1 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
8-[8-(1H-benzimidazol-2-yl)octyl]-1,3-dimethyl-7H-purine-2,6-dione	IC50	72.6 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
N-cyclooctyl-5-(quinolin-6-yloxymethyl)-1,2-oxazole-3-carboxamide	IC50	80.5 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
16,17-dimethoxy-6-propan-2-yl-2,7,20-trioxapentacyclo[11.8.0.03,11.04,8.014,19]henicosa-3(11),4(8),9,14,16,18-hexaen-12-one	IC50	82.4 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
2-(4-imino-1-pyridinyl)-1-(4-phenylphenyl)ethanone	IC50	83.9 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
N-[2-(cyclohexen-1-yl)ethyl]-2-[3,4-dimethyl-2-(4-methylphenyl)-7-oxopyrazolo[3,4-d]pyridazin-6-yl]propanamide	IC50	88.1 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
3-nitro-4-(4-thiophen-2-ylsulfonylpiperazin-1-yl)benzamide	IC50	98.5 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
(6,14,26-trimethyl-12,18,23-trioxospiro[2,5,11,17,24-pentaoxapentacyclo[23.2.1.03,9.04,6.09,26]octacosa-19,21-diene-27,2’-oxirane]-13-yl) acetate	IC50	101 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
5-benzyl-2-[4-[(2-chloro-4-fluorophenyl)methyl]piperazin-1-yl]pyrimidine	IC50	109 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
1-(4-ethoxyphenyl)-2-phenyl-6,7,8,9-tetrahydro-5H-imidazo[1,2-a]azepin-4-ium	IC50	114 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION
[[2,7-bis(2-morpholin-4-ylethoxy)fluoren-9-ylidene]amino]thiourea	IC50	114 nM	US-20260001864: COMPOUND CONTAINING SULFAMIDE STRUCTURE, AND PREPARATION METHOD THEREFOR AND APPLICATION THEREOF, AND PHARMACEUTICAL COMPOSITION AND APPLICATION

ChEMBL bioactivities

249 potent at pChembl≥5 of 306 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.70	IC50	20	nM	CHEMBL1202672
7.52	IC50	30	nM	CHEMBL1202661
7.40	IC50	40	nM	RANITIDINE
7.30	IC50	50	nM	CHEMBL1202647
7.30	IC50	50	nM	CHEMBL1202621
7.19	IC50	64	nM	CHEMBL296482
7.19	IC50	65	nM	CHEMBL47529
7.10	IC50	80	nM	CHEMBL1202681
7.10	IC50	80	nM	CHEMBL1202672
7.10	IC50	80	nM	CHEMBL1202647
7.05	IC50	90	nM	CHEMBL1202667
6.96	IC50	110	nM	CHEMBL1202658
6.96	IC50	110	nM	CHEMBL1202621
6.92	IC50	120	nM	CHEMBL1202681
6.92	IC50	120	nM	CHEMBL1202661
6.92	IC50	120	nM	CHEMBL1202663
6.92	IC50	120	nM	CHEMBL1202667
6.89	IC50	130	nM	CHEMBL1202663
6.89	IC50	130	nM	CHEMBL1202659
6.89	IC50	130	nM	CHEMBL293244
6.85	IC50	140	nM	CHEMBL1202607
6.85	IC50	140	nM	CHEMBL1202656
6.82	IC50	150	nM	CHEMBL1202651
6.82	IC50	150	nM	CHEMBL1202654
6.80	IC50	160	nM	CHEMBL1202629
6.77	IC50	170	nM	CHEMBL1202678
6.77	IC50	170	nM	CHEMBL1202671
6.75	IC50	180	nM	CHEMBL1202660
6.75	IC50	180	nM	CHEMBL1202679
6.75	IC50	180	nM	CHEMBL1202655
6.75	IC50	180	nM	CHEMBL1202668
6.70	IC50	200	nM	CHEMBL1202666
6.70	IC50	200	nM	CHEMBL20162
6.68	IC50	210	nM	CHEMBL1202607
6.68	IC50	210	nM	CHEMBL1202655
6.68	IC50	210	nM	CHEMBL1202656
6.66	IC50	220	nM	CHEMBL1202677
6.64	IC50	230	nM	CHEMBL1202642
6.64	IC50	230	nM	CHEMBL1202615
6.64	IC50	230	nM	CHEMBL1202668
6.64	IC50	230	nM	CHEMBL1202673
6.62	IC50	240	nM	CHEMBL1202675
6.62	IC50	240	nM	CHEMBL1202678
6.60	IC50	250	nM	OMEPRAZOLE
6.60	IC50	250	nM	CHEMBL1202643
6.60	IC50	250	nM	CHEMBL1202608
6.60	IC50	250	nM	CHEMBL1202638
6.58	IC50	260	nM	CHEMBL1202666
6.58	IC50	260	nM	CHEMBL1202643
6.58	IC50	260	nM	CHEMBL1202644

PubChem BioAssay actives

251 with measured affinity, of 493 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
4-[4-(3-imidazol-1-ylpropoxy)phenyl]-2-phenyl-1,3-thiazole;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.0200	uM
4-[4-[(E)-2-(1,3-benzothiazol-2-yl)ethenyl]phenoxy]-N,N-dipropylbutan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.0300	uM
1-N’-[2-[[5-[(dimethylamino)methyl]furan-2-yl]methylsulfanyl]ethyl]-1-N-methyl-2-nitroethene-1,1-diamine	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.0400	uM
2-phenyl-4-[4-(3-piperidin-1-ylpropoxy)phenyl]-1,3-thiazole;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.0500	uM
N-butyl-N-[3-[4-[(E)-2-(6-methoxy-1,3-benzoxazol-2-yl)ethenyl]phenoxy]propyl]butan-1-amine;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.0500	uM
2-(4-methyl-12-phenyl-13-oxa-3,6-diazatricyclo[7.4.0.02,6]trideca-1(9),2,4,7-tetraen-5-yl)acetonitrile	78910: Inhibition of H+/K+ ATPase as reduced acid formation in rabbit gastric glands	ic50	0.0640	uM
2-(2-methyl-8-phenylmethoxyimidazo[1,2-a]pyridin-3-yl)acetonitrile	78910: Inhibition of H+/K+ ATPase as reduced acid formation in rabbit gastric glands	ic50	0.0650	uM
4-[4-[(E)-2-(1,3-benzoxazol-2-yl)ethenyl]phenoxy]-N,N-diethylbutan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.0800	uM
N,N-diethyl-3-[4-(2-phenyl-1,3-thiazol-4-yl)phenoxy]propan-1-amine;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.0900	uM
4-[4-[(E)-2-(1,3-benzoxazol-2-yl)ethenyl]phenoxy]-N,N-dipropylbutan-1-amine;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.1100	uM
N,N-dibutyl-4-[4-(2-phenyl-1,3-thiazol-4-yl)phenoxy]butan-1-amine;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.1200	uM
2-[2-methyl-8-(2-phenylethyl)imidazo[1,2-a]pyridin-3-yl]acetonitrile	78910: Inhibition of H+/K+ ATPase as reduced acid formation in rabbit gastric glands	ic50	0.1300	uM
2-[(E)-2-[4-(3-imidazol-1-ylpropoxy)phenyl]ethenyl]-1,3-benzothiazole;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.1300	uM
3-[4-[(E)-2-(1,3-benzothiazol-2-yl)ethenyl]phenoxy]-N,N-dipropylpropan-1-amine;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.1400	uM
3-[4-(1,3-benzothiazol-2-yl)phenoxy]-N,N-dipropylpropan-1-amine;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.1400	uM
N-[3-[4-[(E)-2-(1,3-benzoxazol-2-yl)ethenyl]phenoxy]propyl]-N-butylbutan-1-amine;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.1500	uM
3-[4-[(E)-2-(1,3-benzothiazol-2-yl)ethenyl]phenoxy]-N,N-diethylpropan-1-amine;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.1500	uM
2-[(E)-2-[4-(4-pyrrolidin-1-ylbutoxy)phenyl]ethenyl]-1,3-benzothiazole;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.1600	uM
2-[(E)-2-[4-(4-piperidin-1-ylbutoxy)phenyl]ethenyl]-1,3-benzoxazole;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.1700	uM
2-[(E)-2-[4-(4-pyrrolidin-1-ylbutoxy)phenyl]ethenyl]-1,3-benzoxazole;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.1700	uM
2-[(E)-2-[4-(3-piperidin-1-ylpropoxy)phenyl]ethenyl]-1,3-benzothiazole;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.1800	uM
4-[4-[(E)-2-(1,3-benzothiazol-2-yl)ethenyl]phenoxy]-N,N-diethylbutan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.1800	uM
3-[4-(2-phenyl-1,3-thiazol-4-yl)phenoxy]-N,N-dipropylpropan-1-amine;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.1800	uM
4-[4-[(E)-2-(1,3-benzoxazol-2-yl)ethenyl]phenoxy]-N,N-dibutylbutan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.1800	uM
2-(1H-benzimidazol-2-ylsulfinylmethyl)-4-methoxy-3,5-dimethylaniline	78730: In vitro inhibitory activity against H+/K+ ATPase prepared from canine fundic mucosa	ic50	0.2000	uM
2-[(E)-2-[4-(4-imidazol-1-ylbutoxy)phenyl]ethenyl]-1,3-benzothiazole;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2000	uM
3-[4-[(E)-2-(1,3-benzoxazol-2-yl)ethenyl]phenoxy]-N,N-dipropylpropan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2200	uM
2-[(E)-2-[4-(5-imidazol-1-ylpentoxy)phenyl]ethenyl]-1,3-benzoxazole;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.2300	uM
N-butyl-N-[3-[4-[2-(4-methoxyphenyl)-1,3-thiazol-4-yl]phenoxy]propyl]butan-1-amine;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.2300	uM
N-butyl-N-[3-[4-(5-methyl-2-phenyl-1,3-thiazol-4-yl)phenoxy]propyl]butan-1-amine;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.2300	uM
N-butyl-N-[3-[4-(5-ethyl-2-phenyl-1,3-thiazol-4-yl)phenoxy]propyl]butan-1-amine;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.2400	uM
6-methoxy-2-[(4-methoxy-3,5-dimethyl-2-pyridinyl)methylsulfinyl]-1H-benzimidazole	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2500	uM
2-[(E)-2-[4-(3-imidazol-1-ylpropoxy)phenyl]ethenyl]-1,3-benzoxazole;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.2500	uM
N-[3-[4-(1,3-benzothiazol-2-yl)phenoxy]propyl]-N-butylbutan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2500	uM
N-[3-[4-[(E)-2-(1,3-benzothiazol-2-yl)ethenyl]phenoxy]propyl]-N-butylbutan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2500	uM
N-[2-[4-[(E)-2-(1,3-benzoxazol-2-yl)ethenyl]phenoxy]ethyl]-N-butylbutan-1-amine;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2600	uM
N-butyl-N-[3-[4-[(E)-2-(5-methyl-1,3-benzoxazol-2-yl)ethenyl]phenoxy]propyl]butan-1-amine;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2600	uM
N-butyl-N-[3-[4-[(E)-2-(6-methoxy-1,3-benzothiazol-2-yl)ethenyl]phenoxy]propyl]butan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2600	uM
N-butyl-N-[3-[4-[2-(3,5-dimethoxyphenyl)-1,3-thiazol-4-yl]phenoxy]propyl]butan-1-amine;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2600	uM
2-[(E)-2-[4-(4-imidazol-1-ylbutoxy)phenyl]ethenyl]-1,3-benzoxazole;hydrate;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2700	uM
N-butyl-N-[3-[4-[(E)-2-(5-methyl-1,3-benzothiazol-2-yl)ethenyl]phenoxy]propyl]butan-1-amine;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.2900	uM
2-benzyl-1-[4-(3,4-dihydroxyphenyl)-1,3-thiazol-2-yl]guanidine;hydrochloride	78732: Inhibitory activity against dog gastric proton-pump enzyme H+/K+ ATPase	ic50	0.3000	uM
2-methyl-8-phenylmethoxyimidazo[1,2-a]pyridin-3-amine	78910: Inhibition of H+/K+ ATPase as reduced acid formation in rabbit gastric glands	ic50	0.3100	uM
N-butyl-N-[2-[4-(2-phenyl-1,3-thiazol-4-yl)phenoxy]ethyl]butan-1-amine;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.3100	uM
4-[4-(4-imidazol-1-ylbutoxy)phenyl]-2-phenyl-1,3-thiazole;hydrate;hydrochloride	167650: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by dibutyryl cyclic adenosine 3’, 5’ -monophosphate (dcAMP)	ic50	0.3100	uM
3-[4-[(E)-2-(1,3-benzoxazol-2-yl)ethenyl]phenoxy]-N,N-diethylpropan-1-amine;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.3200	uM
4-[4-(3-imidazol-1-ylpropoxy)phenyl]-2-[4-(trifluoromethyl)phenyl]-1,3-thiazole;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.3700	uM
2-phenyl-4-[4-(3-pyrrolidin-1-ylpropoxy)phenyl]-1,3-thiazole;hydrochloride	167652: Antisecretory activity evaluated by the inhibition of 14C -AP uptake in isolated rabbit parietal cells stimulated by exogenous histamine	ic50	0.3900	uM
2-[(4-methoxy-3-methyl-2-pyridinyl)methylsulfinyl]-6-(1,1,2,2-tetrafluoroethoxy)-1H-benzimidazole	78913: In vitro evaluation for the inhibition of H+/K+ ATPase at pH < 3 in the gastric glands of isolated rabbit stomach.	ic50	0.3981	uM
Lansoprazole	78913: In vitro evaluation for the inhibition of H+/K+ ATPase at pH < 3 in the gastric glands of isolated rabbit stomach.	ic50	0.3981	uM

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
aristolochic acid I	increases expression	1
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
sodium arsenite	affects methylation	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
abrine	increases expression	1
Acetaminophen	increases expression	1
Aldehydes	increases expression	1
Estradiol	affects binding, increases reaction	1
Tretinoin	affects expression	1
Valproic Acid	increases methylation	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1

ChEMBL screening assays

17 unique, capped per target: 13 binding, 4 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL686427	Binding	Inhibitory activity against dog gastric proton-pump enzyme H+/K+ ATPase	Antiulcer agents. 4-substituted 2-guanidinothiazoles: reversible, competitive, and selective inhibitors of gastric H+,K(+)-ATPase. — J Med Chem
CHEMBL765030	Functional	Inhibition of [14C]aminopyrine (AP) accumulation stimulated by dibutyryl cyclic AMP in isolated rabbit parietal cells	Nicotinamide derivatives as a new class of gastric H+/K(+)-ATPase inhibitors. 1. Synthesis and structure-activity relationships of N-substituted 2-(benzhydryl- and benzylsulfinyl)nicotinamides. — J Med Chem

Clinical trials (associated diseases)

169 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
NCT00169403	PHASE3	UNKNOWN	Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia
NCT03232320	PHASE3	COMPLETED	Meditoxin® Treatment in Patients With Cervical Dystonia
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
NCT07304089	PHASE2	RECRUITING	A Study to Evaluate the Efficacy, Safety, and Tolerability of VIM0423 in Individuals With Isolated Dystonia
NCT01433757	PHASE1	COMPLETED	Ampicillin for DYT-1 Dystonia Motor Symptoms
NCT01698450	PHASE1	COMPLETED	Magnetic Resonance (MR) Guided Functional Ultrasound-Neurosurgery for Movement Disorders
NCT02982304	PHASE1	UNKNOWN	Multi-Target Pallidal and Thalamic Deep Brain Stimulation for Hemi-Dystonia
NCT06117020	PHASE1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT06554288	PHASE1	RECRUITING	Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy
NCT00004421	PHASE2/PHASE3	COMPLETED	Deep Brain Stimulation in Treating Patients With Dystonia
NCT00272246	PHASE2/PHASE3	UNKNOWN	Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia
NCT00608231	PHASE2/PHASE3	WITHDRAWN	Dexmedetomidine Effects on Microelectrode Recording in Deep Brain Stimulation
NCT04277247	PHASE2/PHASE3	UNKNOWN	Botulinum Toxin Type A for Foot Dystonia-associated Pain in Parkinson’s Disease
NCT02015039	PHASE1/PHASE2	COMPLETED	Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer’s Cramp
NCT02911103	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Deep Brain Stimulation Surgery for Focal Hand Dystonia
NCT04727177	EARLY_PHASE1	UNKNOWN	Precision-targeted Transcranial Magnetic Stimulation in the Treatment of Primary Dystonia
NCT00006336	Not specified	COMPLETED	Sensory Training to Treat Focal Dystonia
NCT00017875	Not specified	COMPLETED	Transcranial Magnetic Stimulation (TMS) Studies of Dystonia
NCT00029601	Not specified	COMPLETED	Surround Inhibition in Patients With Dystonia
NCT00031369	Not specified	TERMINATED	Brain Anatomy in Dystonia
NCT00047957	Not specified	COMPLETED	Brain Inhibition of Muscle Movement in Normal Volunteers
NCT00050024	Not specified	COMPLETED	Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia
NCT00072956	Not specified	COMPLETED	The Physiology of Tricks
NCT00082615	Not specified	COMPLETED	Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives
NCT00102999	Not specified	COMPLETED	Brain Function in Focal Dystonia
NCT00285870	Not specified	COMPLETED	Quantification of Upper Extremity Hypertonia
NCT00355927	Not specified	UNKNOWN	Sedation During Microelectrode Recordings Before Deep Brain Stimulation for Movement Disorders.