STXBP1

Summary

STXBP1 (syntaxin binding protein 1, HGNC:11444) is a protein-coding gene on chromosome 9q34.11, encoding Syntaxin-binding protein 1 (P61764). Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 6812 — RefSeq curated summary.

At a glance

• Gene–disease (curated): genetic developmental and epileptic encephalopathy (Definitive, ClinGen) — +8 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 1,241 total — 278 pathogenic, 110 likely-pathogenic
• Phenotypes (HPO): 97
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001032221

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11444
Approved symbol	STXBP1
Name	syntaxin binding protein 1
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	hUNC18, MUNC18-1, UNC18, rbSec1, nSec1
Ensembl gene	ENSG00000136854
Ensembl biotype	protein_coding
OMIM	602926
Entrez	6812

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 21 protein_coding, 7 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000373299, ENST00000373302, ENST00000476182, ENST00000494254, ENST00000496504, ENST00000625363, ENST00000626333, ENST00000626416, ENST00000626539, ENST00000627871, ENST00000628638, ENST00000628768, ENST00000635950, ENST00000636509, ENST00000636962, ENST00000637060, ENST00000637173, ENST00000637464, ENST00000637521, ENST00000637953, ENST00000647107, ENST00000650920, ENST00000704680, ENST00000704681, ENST00000713763, ENST00000713764, ENST00000713765, ENST00000713766, ENST00000944184, ENST00000944185, ENST00000944186

RefSeq mRNA: 12 — MANE Select: NM_001032221 NM_001032221, NM_001374306, NM_001374307, NM_001374308, NM_001374309, NM_001374310, NM_001374311, NM_001374312, NM_001374313, NM_001374314, NM_001374315, NM_003165

CCDS: CCDS35146, CCDS6874, CCDS94486, CCDS94487, CCDS94488, CCDS94489

Canonical transcript exons

ENST00000373299 — 19 exons

Exon	Start	End
ENSE00000927169	127651603	127651652
ENSE00000927170	127653715	127653796
ENSE00000927171	127658375	127658451
ENSE00000927172	127660030	127660108
ENSE00000927173	127661102	127661205
ENSE00000927174	127663205	127663353
ENSE00000927175	127665247	127665331
ENSE00000927176	127666166	127666296
ENSE00000927177	127668080	127668187
ENSE00000927178	127669898	127669958
ENSE00000927182	127676644	127676753
ENSE00000927183	127678431	127678532
ENSE00003487864	127672051	127672116
ENSE00003577740	127675804	127675942
ENSE00003612856	127673181	127673261
ENSE00003760044	127680157	127680242
ENSE00003760296	127682406	127682560
ENSE00004021180	127690775	127692699
ENSE00004021187	127612277	127612440

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.4601 / max 2411.4072, expressed in 1765 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98621	45.9204	1715
98620	1.6968	771
98619	1.6191	809
98615	1.0846	491
98634	0.5186	191
98635	0.2717	97
98614	0.1484	66
98633	0.0532	13
98623	0.0492	22
98618	0.0403	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.87	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.83	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.74	gold quality
pons	UBERON:0000988	99.73	gold quality
superior frontal gyrus	UBERON:0002661	99.70	gold quality
primary visual cortex	UBERON:0002436	99.68	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.66	gold quality
substantia nigra pars compacta	UBERON:0001965	99.65	gold quality
cerebellar hemisphere	UBERON:0002245	99.64	gold quality
occipital lobe	UBERON:0002021	99.63	gold quality
postcentral gyrus	UBERON:0002581	99.63	gold quality
paraflocculus	UBERON:0005351	99.63	gold quality
parietal lobe	UBERON:0001872	99.62	gold quality
cerebellum	UBERON:0002037	99.59	gold quality
frontal pole	UBERON:0002795	99.59	gold quality
cerebellar cortex	UBERON:0002129	99.57	gold quality
Brodmann (1909) area 10	UBERON:0013541	99.52	gold quality
orbitofrontal cortex	UBERON:0004167	99.51	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.49	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.43	gold quality
entorhinal cortex	UBERON:0002728	99.40	gold quality
superior vestibular nucleus	UBERON:0007227	99.37	gold quality
lateral globus pallidus	UBERON:0002476	99.28	gold quality
frontal cortex	UBERON:0001870	99.24	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.22	gold quality
right frontal lobe	UBERON:0002810	99.21	gold quality
endothelial cell	CL:0000115	99.20	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.14	gold quality
prefrontal cortex	UBERON:0000451	99.12	gold quality
CA1 field of hippocampus	UBERON:0003881	99.07	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	46.39
E-GEOD-93593	yes	20.57
E-MTAB-5061	yes	16.08
E-GEOD-84465	yes	7.28
E-HCAD-13	no	2.97
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, HNF4A, HOXA10, PLAGL2, STX1B, TCF3, TP63

miRNA regulators (miRDB)

144 targeting STXBP1, 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-5692A	100.00	74.40	6850
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Munc18a acts through direct and indirect interactions with X11 proteins and powerfully regulates APP metabolism and Abeta secretion. (PMID:12016213)
• Syntaxin/Munc18 interactions in the late events during vesicle fusion and release in exocytosis (PMID:15175344)
• Ser-313, a Munc18-1 protein kinase C phosphorylation site, and Thr-574, a cyclin-dependent kinase 5 phosphorylation site, regulate Munc18-1/syntaxin1A interaction in HEK293-S3 and chromaffin cells (PMID:15489225)
• MUNC18-1 regulates early and late stages of exocytosis via syntaxin-independent protein interactions. (PMID:15563604)
• Mediates exocytosis and decreases beta-amyloid peptide formation in Alzheimer disease. (PMID:16413130)
• syntaxin1A possesses distinct inhibitory and stimulatory domains that interact with ENaC subunits, which critically determines the overall ENaC functionality/regulation under distinct physiological conditions (PMID:17200691)
• analysis of the spatially distinct modes of munc18-syntaxin 1 interaction (PMID:17264080)
• proteomic assessments of membrane microdomains in prefrontal cortex and validation in two brain series, strongly implicates LAMP, STXBP1 and BASP1 in schizophreina and supports the view of a neuritic and synaptic dysfunction in the neuropathology (PMID:18268500)
• De novo mutations in the gene encoding STXBP1 cause early infantile epileptic encephalopathy. (PMID:18469812)
• Syntaxin 1 interaction with the dopamine transporter promotes amphetamine-induced dopamine efflux. (PMID:18617632)
• Results identified syntaxin binding protein I that showed elevated levels of protein carbonyls in inferior parietal lobule (IPL) from subjects with mild cognitive impairment. (PMID:19686046)
• This protein has been found differentially expressed in thalami from patients with schizophrenia. (PMID:20471030)
• we summarize these recent advances and attempt to propose an updated model of the pleiotropic functions of Munc18-1 in neuroexocytosis–{REVIEW} (PMID:20681955)
• STXBP1 mutational analysis should be considered in the diagnostic evaluation of this challenging group of patients. (PMID:20876469)
• Collectively, STXBP1 aberrations can account for about one-third individuals with EIEE (14 of 43). These genetic and biologic data clearly showed that haploinsufficiency of STXBP1 is the important cause for cryptogenic EIEE. (PMID:20887364)
• two de novo nucleotide alterations of STXBP1 were identified in two patients with Ohtahara and West syndrome, respectively; first case report showing that STXBP1 mutations caused West syndrome from the onset of epilepsy (PMID:21204804)
• By combining this and previous study, 3 de novo truncating STXBP1 mutations in 145 sporadic non-syndromic intellectual disability (NSID) cases (~2%)have been identified. (PMID:21364700)
• Exocytotic dysfunctions in schizophrenia are probably related to an imbalance of the interaction between munc18-1a and SNARE (mainly syntaxin-1A) complex. (PMID:21669024)
• mutation resulting in encephalopathy presenting as infantile spasms and generalized tremor (PMID:21762454)
• mutations found in early onset epileptic encephalopathy and Ohtahara syndrome (PMID:21770924)
• Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. (PMID:22211739)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• Munc18-1 plays a key role in the dynamics of trans-SNARE complex assembly and/or stabilization, a process that is necessary for the docking of the outer acrosomal membrane to the plasma membrane and subsequent fusion pore opening. (PMID:23091057)
• this study described the clinical features of six new patients with an STXBP1 encephalopathy presenting as Ohtahara syndrome (2/6, 33%), West syndrome (1/65, 2%), and nonsyndromic early onset EE (3/64, 5%). (PMID:23409955)
• Double knockdown of Munc18-1 and Munc18-2 in mast cells eliminates both IgE-dependent and ionomycin-induced degranulation and causes a significant reduction in syntaxin-11 without altering expressions of the other syntaxin isoforms examined. (PMID:23487749)
• N-peptide and LE mutation have no effect on the global conformation of the Munc18a-Syx1a complex. (PMID:23858467)
• STXBP1 mutations associated with early epileptic encephalopathies. (PMID:24189369)
• GABRA1 and STXBP1 make a significant contribution to Dravet syndrome (PMID:24623842)
• Recruitment of STXBP1 by the Rab27A effector SYTL4 promotes Weibel-Palade body exocytosis. (PMID:24700782)
• STXBP1 gene mutation was found in 1 out of 11 patients (PMID:25008876)
• In vitro interaction assays indicated that Doc2b is required to bridge the interaction between Munc18c and Munc18-1 in the macromolecular complex; Munc18c and Munc18-1 failed to associate in the absence of Doc2b (PMID:25190515)
• A de novo mutation in STXBP1 was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. Findings implicate a secondary impairment of mitochondrial function. (PMID:25418441)
• We report the case of a 19-month-old child with Ohtahara syndrome who displays a previously unreported mutation in STXBP1 This mutation is located in a donor splice site and eliminates exon 14, resulting in a truncated protein (PMID:25631041)
• The case described suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy. (PMID:25714420)
• Epileptic encephalopathy related to mutations in the STXBP1 genes. (PMID:25818041)
• partial STXBP1 loss of function robustly impairs neurotransmitter release in human neurons, and suggest that heterozygous STXBP1 mutations cause early epileptic encephalopathy specifically through a presynaptic impairment. (PMID:26280581)
• We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. We identified four novel mutations: two splicing mutations, a frameshift mutation, and a nonsense mutation. (PMID:26384463)
• 9q33.3q34.11 microdeletion including STXBP1 gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations. (PMID:26395556)
• de novo mutations in early-onset epilepsy (PMID:26514728)
• M18L was localized to presynaptic inhibitory terminals, and was associated with cognitive function and protection from dementia in an elderly (PMID:26628003)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	stxbp1a	ENSDARG00000001994
danio_rerio	stxbp1b	ENSDARG00000056036
mus_musculus	Stxbp1	ENSMUSG00000026797
rattus_norvegicus	Stxbp1	ENSRNOG00000015420
drosophila_melanogaster	Rop	FBGN0004574
caenorhabditis_elegans		WBGENE00006757

Paralogs (7): STXBP2 (ENSG00000076944), SCFD1 (ENSG00000092108), STXBP3 (ENSG00000116266), VPS45 (ENSG00000136631), VPS33A (ENSG00000139719), VPS33B (ENSG00000184056), SCFD2 (ENSG00000184178)

Protein

Protein identifiers

Syntaxin-binding protein 1 — P61764 (reviewed: P61764)

Alternative names: MUNC18-1, N-Sec1, Protein unc-18 homolog 1, Protein unc-18 homolog A, p67

All UniProt accessions (17): A0A096LP33, A0A096LP52, A0A0D9SG72, A0A1B0GTD8, A0A1B0GTP9, A0A1B0GUQ2, P61764, A0A1B0GVQ5, A0A1B0GVV9, A0A1B0GW76, A0A1B0GWF2, A0A2R8Y5D4, A0A994J7L2, A0AAQ5BGV0, A0AAQ5BGV2, A0AAQ5BGW4, A0AAQ5BGX7

UniProt curated annotations — full annotation on UniProt →

Function. Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. Involved in the release of neurotransmitters from neurons through interacting with SNARE complex component STX1A and mediating the assembly of the SNARE complex at synaptic membranes. May play a role in determining the specificity of intracellular fusion reactions.

Subunit / interactions. Interacts with SYTL4. Interacts with STX1A. The interaction recruits SNARE complex components SNAP25 and VAMP2 and mediates neurotransmitter release from neurons. Interacts with alpha-synuclein/SNCA; this interaction controls SNCA self-replicating aggregation. Interacts with RAB3A; this interaction promotes RAB3A dissociation from the vesicle membrane. Interacts with CABP5.

Subcellular location. Cytoplasm. Cytosol. Membrane.

Tissue specificity. Brain and spinal cord. Highly enriched in axons.

Disease relevance. Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound intellectual disability, and MRI evidence of brain hypomyelination. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the STXBP/unc-18/SEC1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P61764-1	1, A	yes
P61764-2	2, BE, HUNC18b

RefSeq proteins (12): NP_001027392, NP_001361235, NP_001361236, NP_001361237, NP_001361238, NP_001361239, NP_001361240, NP_001361241, NP_001361242, NP_001361243, NP_001361244, NP_003156 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001619	Sec1-like	Family
IPR027482	Sec1-like_dom2	Homologous_superfamily
IPR036045	Sec1-like_sf	Homologous_superfamily
IPR043127	Sec-1-like_dom3a	Homologous_superfamily
IPR043154	Sec-1-like_dom1	Homologous_superfamily

Pfam: PF00995

UniProt features (31 total): sequence variant 24, modified residue 5, chain 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6L03	X-RAY DIFFRACTION	2.08

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61764-F1	90.62	0.79

Functional residue map

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

Post-translational modifications (5): 476, 509, 511, 516, 593

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-422356	Regulation of insulin secretion
R-HSA-6794361	Neurexins and neuroligins
R-HSA-181429	Serotonin Neurotransmitter Release Cycle
R-HSA-181430	Norepinephrine Neurotransmitter Release Cycle
R-HSA-210500	Glutamate Neurotransmitter Release Cycle
R-HSA-212676	Dopamine Neurotransmitter Release Cycle
R-HSA-264642	Acetylcholine Neurotransmitter Release Cycle
R-HSA-888590	GABA synthesis, release, reuptake and degradation
R-HSA-112316	Neuronal System
R-HSA-1430728	Metabolism
R-HSA-163685	Integration of energy metabolism
R-HSA-6794362	Protein-protein interactions at synapses

MSigDB gene sets: 676 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_SINGLE_FERTILIZATION, GNF2_RTN1, GOBP_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_GLUTAMATE_SECRETION, GOBP_REGULATION_OF_VESICLE_FUSION, MODY_HIPPOCAMPUS_POSTNATAL, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_REGULATION_OF_ORGANIC_ACID_TRANSPORT, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_RESPONSE_TO_PEPTIDE

GO Biological Process (37): platelet degranulation (GO:0002576), developmental process involved in reproduction (GO:0003006), intracellular protein transport (GO:0006886), obsolete vesicle docking involved in exocytosis (GO:0006904), neuromuscular synaptic transmission (GO:0007274), axon target recognition (GO:0007412), regulation of synaptic vesicle priming (GO:0010807), synaptic vesicle priming (GO:0016082), synaptic vesicle maturation (GO:0016188), negative regulation of protein-containing complex assembly (GO:0031333), regulation of synaptic vesicle fusion to presynaptic active zone membrane (GO:0031630), negative regulation of synaptic transmission, GABAergic (GO:0032229), response to estradiol (GO:0032355), SNARE complex assembly (GO:0035493), regulation of SNARE complex assembly (GO:0035542), positive regulation of mast cell degranulation (GO:0043306), negative regulation of neuron apoptotic process (GO:0043524), positive regulation of calcium ion-dependent exocytosis (GO:0045956), protein stabilization (GO:0050821), neuron apoptotic process (GO:0051402), long-term synaptic depression (GO:0060292), platelet aggregation (GO:0070527), cellular response to type II interferon (GO:0071346), protein localization to plasma membrane (GO:0072659), presynaptic dense core vesicle exocytosis (GO:0099525), obsolete positive regulation of vesicle docking (GO:0106022), positive regulation of glutamate secretion, neurotransmission (GO:1903296), regulation of acrosomal vesicle exocytosis (GO:2000367), exocytosis (GO:0006887), neurotransmitter secretion (GO:0007269), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), regulation of vesicle fusion (GO:0031338), regulated exocytosis (GO:0045055), positive regulation of exocytosis (GO:0045921), establishment of localization in cell (GO:0051649), regulation of regulated secretory pathway (GO:1903305)

GO Molecular Function (9): SNARE binding (GO:0000149), RNA binding (GO:0003723), syntaxin-1 binding (GO:0017075), protein kinase binding (GO:0019901), protein domain specific binding (GO:0019904), syntaxin binding (GO:0019905), identical protein binding (GO:0042802), phospholipase binding (GO:0043274), protein binding (GO:0005515)

GO Cellular Component (20): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), plasma membrane (GO:0005886), secretory granule (GO:0030141), axon (GO:0030424), platelet alpha granule (GO:0031091), protein-containing complex (GO:0032991), phagocytic vesicle (GO:0045335), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), parallel fiber to Purkinje cell synapse (GO:0098688), postsynapse (GO:0098794), presynaptic active zone cytoplasmic component (GO:0098831), extrinsic component of presynaptic membrane (GO:0098888), glutamatergic synapse (GO:0098978), presynaptic cytosol (GO:0099523), membrane (GO:0016020), presynapse (GO:0098793)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Neurotransmitter release cycle	6
Integration of energy metabolism	1
Protein-protein interactions at synapses	1
Metabolism	1
Neuronal System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
regulation of protein-containing complex assembly	3
protein-containing complex assembly	3
protein binding	3
cytoplasm	3
synapse	3
regulated exocytosis	1
establishment of localization in cell	1
reproductive process	1
developmental process	1
intracellular protein localization	1
protein transport	1
intracellular transport	1
chemical synaptic transmission	1
cell communication	1
axonogenesis	1
synaptic vesicle priming	1
synaptic vesicle exocytosis	1
exocytic process	1
vesicle organization	1
developmental maturation	1
negative regulation of cellular component organization	1
regulation of vesicle fusion	1
synaptic vesicle fusion to presynaptic active zone membrane	1
regulation of synaptic vesicle membrane organization	1
regulation of synaptic transmission, GABAergic	1
negative regulation of synaptic transmission	1
synaptic transmission, GABAergic	1
response to lipid	1
response to oxygen-containing compound	1
vesicle fusion	1
SNARE complex assembly	1
positive regulation of leukocyte degranulation	1
mast cell degranulation	1
regulation of mast cell degranulation	1
negative regulation of apoptotic process	1
regulation of neuron apoptotic process	1
neuron apoptotic process	1
calcium-ion regulated exocytosis	1
regulation of calcium ion-dependent exocytosis	1

Protein interactions and networks

STRING

2595 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STXBP1	STX1A	Q16623	998
STXBP1	SNAP25	P13795	981
STXBP1	UNC13B	O14795	970
STXBP1	STX1B	P61266	940
STXBP1	APBA1	Q02410	940
STXBP1	VAMP2	P19065	938
STXBP1	SYTL4	Q96C24	925
STXBP1	SYT1	P21579	891
STXBP1	SPTAN1	Q13813	887
STXBP1	PCDH19	Q8TAB3	872
STXBP1	CDKL5	O76039	866
STXBP1	KCNQ2	O43526	845
STXBP1	SCN1A	P35498	844
STXBP1	PCDH10	Q9P2E7	842
STXBP1	SCN2A	Q99250	833

IntAct

202 interactions, top by confidence:

A	B	Type	Score
STX11	SNAP23	psi-mi:“MI:0914”(association)	0.900
STX19	STXBP1	psi-mi:“MI:0915”(physical association)	0.850
STXBP1	STX19	psi-mi:“MI:0915”(physical association)	0.850
STX19	STXBP1	psi-mi:“MI:0914”(association)	0.850
STX11	STXBP1	psi-mi:“MI:0915”(physical association)	0.830
STXBP1	STX11	psi-mi:“MI:0915”(physical association)	0.830
SOD1	CCS	psi-mi:“MI:0914”(association)	0.830
STXBP1	TRIM38	psi-mi:“MI:0915”(physical association)	0.810
TRIM38	STXBP1	psi-mi:“MI:0915”(physical association)	0.810
TUSC3	RPN2	psi-mi:“MI:0914”(association)	0.730
STXBP1	STX5	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710

BioGRID (206): STXBP1 (Reconstituted Complex), STXBP1 (Reconstituted Complex), STXBP1 (Reconstituted Complex), STXBP1 (Reconstituted Complex), STX11 (Two-hybrid), TRIM38 (Two-hybrid), STX19 (Two-hybrid), STXBP1 (Affinity Capture-MS), SYTL4 (Affinity Capture-Western), STX3 (Affinity Capture-Western), STX2 (Affinity Capture-Western), STXBP1 (Affinity Capture-Western), STXBP1 (Affinity Capture-MS), STXBP1 (Affinity Capture-MS), STXBP1 (Affinity Capture-MS)

ESM2 similar proteins: B0XDC4, B2RY04, B3LF48, B3M383, B4GEU5, B4JT42, B4K5R2, B4NBB0, O00186, O08599, O18637, O74534, O94590, P22213, P30619, P34260, P34529, P34815, P38932, P61763, P61764, P61765, P97393, Q07327, Q14185, Q15833, Q16JS8, Q18891, Q24179, Q28288, Q296Q5, Q54QC8, Q5D892, Q5R6D2, Q5VNU3, Q60770, Q62753, Q64324, Q6R748, Q7QCW2

Diamond homologs: O00186, O08599, P34815, P61763, P61764, P61765, Q07327, Q15833, Q28288, Q29268, Q54QC8, Q5R6D2, Q60770, Q62753, Q64324, Q6R748, Q9SZ77, Q9C5X3, O94590, Q5VNU3, O74534, P22213, Q62991, Q7XWP3, Q8BRF7, Q8WVM8, Q9C5P7, Q9SL48

SIGNOR signaling

12 interactions.

A	Effect	B	Mechanism
STXBP1	“up-regulates activity”	SNARE_complex	“transcriptional regulation”
PRKCE	“down-regulates quantity”	STXBP1	phosphorylation
APBA1	“up-regulates activity”	STXBP1	binding
APBA3	“up-regulates activity”	STXBP1	binding
APBA2	“up-regulates activity”	STXBP1	binding
STXBP1	“up-regulates activity”	STX1A	binding
PRKCA	unknown	STXBP1	phosphorylation
PRKCB	unknown	STXBP1	phosphorylation
PRKCG	unknown	STXBP1	phosphorylation
PRKCB	“down-regulates activity”	STXBP1	phosphorylation
PRKCG	“down-regulates activity”	STXBP1	phosphorylation
STXBP1	“up-regulates activity”	NRXN1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 159 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Bacterial Infection Pathways	5	15.7×	5e-03
Response to elevated platelet cytosolic Ca2+	6	9.2×	9e-03
Platelet activation, signaling and aggregation	7	6.9×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle docking	8	42.9×	7e-09
vesicle fusion	5	21.0×	8e-04
exocytosis	10	10.6×	1e-05
intracellular protein transport	12	5.4×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

1241 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	278
Likely pathogenic	110
Uncertain significance	292
Likely benign	375
Benign	70

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1064621	NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg)	Pathogenic
1069951	NM_001032221.6(STXBP1):c.980dup (p.Ser328fs)	Pathogenic
1071250	NM_001032221.6(STXBP1):c.1359_1360insC (p.Ser454fs)	Pathogenic
1071661	NM_001032221.6(STXBP1):c.1641_1642insC (p.Asn548fs)	Pathogenic
1184507	NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)	Pathogenic
1201358	NM_001032221.6(STXBP1):c.1726C>T (p.Gln576Ter)	Pathogenic
1202095	NM_001032221.6(STXBP1):c.616C>T (p.Gln206Ter)	Pathogenic
1298369	NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg)	Pathogenic
1298370	NM_001032221.6(STXBP1):c.1227_1229del (p.Leu410del)	Pathogenic
1298371	NM_003165.6(STXBP1):c.664-1delG	Pathogenic
1298373	NM_001032221.6(STXBP1):c.733C>A (p.His245Asn)	Pathogenic
1325882	NM_001032221.6(STXBP1):c.1392del (p.Lys465fs)	Pathogenic
1341561	NM_001032221.6(STXBP1):c.898del (p.Ser300fs)	Pathogenic
1382874	NM_001032221.6(STXBP1):c.323_325+1del	Pathogenic
1388120	NM_001032221.6(STXBP1):c.225T>G (p.Tyr75Ter)	Pathogenic
1398686	NM_001032221.6(STXBP1):c.971del (p.Met324fs)	Pathogenic
1400645	NM_001032221.6(STXBP1):c.1503T>A (p.Tyr501Ter)	Pathogenic
1403332	NM_001032221.6(STXBP1):c.663+5G>A	Pathogenic
1413674	NM_001032221.6(STXBP1):c.1359+3A>C	Pathogenic
1435255	NM_001032221.6(STXBP1):c.325+4A>T	Pathogenic
1448441	NM_001032221.6(STXBP1):c.1092dup (p.Leu365fs)	Pathogenic
1453163	NC_000009.11:g.(?130374683)(130416095_?)del	Pathogenic
1453697	NM_001032221.6(STXBP1):c.920_921del (p.Leu307fs)	Pathogenic
1454627	NC_000009.12:g.127660030_127660059del	Pathogenic
1456242	NC_000009.12:g.127669899del	Pathogenic
1457463	NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys)	Pathogenic
1460075	NM_001032221.6(STXBP1):c.520del (p.Glu174fs)	Pathogenic
1475067	NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg)	Pathogenic
1497566	NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg)	Pathogenic
160070	NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)	Pathogenic

SpliceAI

2851 predictions. Top by Δscore:

Variant	Effect	Δscore
9:127612437:GAGA:G	donor_gain	1.0000
9:127612439:GA:G	donor_gain	1.0000
9:127612441:G:GG	donor_gain	1.0000
9:127651598:TTTA:T	acceptor_loss	1.0000
9:127651601:A:AG	acceptor_gain	1.0000
9:127651602:G:GA	acceptor_gain	1.0000
9:127651602:GA:G	acceptor_gain	1.0000
9:127651602:GAGA:G	acceptor_gain	1.0000
9:127651602:GAGAT:G	acceptor_gain	1.0000
9:127653709:TTGCA:T	acceptor_loss	1.0000
9:127653710:TGCA:T	acceptor_loss	1.0000
9:127653711:GCA:G	acceptor_loss	1.0000
9:127653712:CAGGT:C	acceptor_loss	1.0000
9:127653713:A:G	acceptor_loss	1.0000
9:127653795:GA:G	donor_gain	1.0000
9:127653797:G:GG	donor_gain	1.0000
9:127654902:C:CA	acceptor_gain	1.0000
9:127658371:CTAGT:C	acceptor_loss	1.0000
9:127658372:TAGTT:T	acceptor_loss	1.0000
9:127658373:A:AG	acceptor_gain	1.0000
9:127658373:A:C	acceptor_loss	1.0000
9:127658374:G:GC	acceptor_gain	1.0000
9:127658374:GT:G	acceptor_gain	1.0000
9:127658374:GTT:G	acceptor_gain	1.0000
9:127658374:GTTGT:G	acceptor_gain	1.0000
9:127660029:GTCC:G	acceptor_gain	1.0000
9:127660105:GACT:G	donor_gain	1.0000
9:127660109:G:GG	donor_gain	1.0000
9:127661100:A:AG	acceptor_gain	1.0000
9:127661101:G:GG	acceptor_gain	1.0000

AlphaMissense

3939 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:127653719:T:C	L31P	1.000
9:127653728:A:T	D34V	1.000
9:127653736:A:C	S37R	1.000
9:127653738:C:A	S37R	1.000
9:127653738:C:G	S37R	1.000
9:127653791:T:A	I55K	1.000
9:127658399:G:C	R65T	1.000
9:127658400:A:C	R65S	1.000
9:127658400:A:T	R65S	1.000
9:127660094:T:A	V104D	1.000
9:127663313:T:C	C180R	1.000
9:127663335:C:A	P187Q	1.000
9:127663344:G:C	R190P	1.000
9:127665273:C:A	A202D	1.000
9:127665294:T:C	L209P	1.000
9:127665326:G:A	G220R	1.000
9:127665326:G:C	G220R	1.000
9:127665326:G:T	G220W	1.000
9:127666191:T:C	L230P	1.000
9:127666235:C:G	H245D	1.000
9:127666269:T:C	L256P	1.000
9:127668147:T:A	W288R	1.000
9:127668147:T:C	W288R	1.000
9:127668160:G:C	R292P	1.000
9:127668168:C:G	H295D	1.000
9:127668169:A:G	H295R	1.000
9:127668170:C:A	H295Q	1.000
9:127668170:C:G	H295Q	1.000
9:127668172:T:A	I296N	1.000
9:127669903:T:A	V303D	1.000

dbSNP variants (sampled 300 via entrez): RS1000048197 (9:127661626 T>C), RS1000052382 (9:127617417 G>A,T), RS1000088574 (9:127693085 A>AT), RS1000109872 (9:127624663 C>T), RS1000112781 (9:127661955 A>C), RS1000211803 (9:127654463 C>T), RS1000356803 (9:127647398 A>T), RS1000370823 (9:127692873 C>A), RS1000414299 (9:127628217 T>C), RS1000541010 (9:127666668 C>T), RS1000560225 (9:127611644 G>A), RS1000590499 (9:127634319 A>G), RS1000610869 (9:127611350 A>G), RS1000618603 (9:127655931 G>A,T), RS1000621676 (9:127674258 GAA>G,GA,GAAA)

Disease associations

OMIM: gene MIM:602926 | disease phenotypes: MIM:108600, MIM:612164, MIM:213000, MIM:209850

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 4	Definitive	Autosomal recessive
autosomal dominant non-syndromic intellectual disability	Supportive	Autosomal dominant
genetic developmental and epileptic encephalopathy	Supportive	Autosomal dominant
atypical Rett syndrome	Supportive	Autosomal dominant
Dravet syndrome	Supportive	Autosomal dominant
infantile spasms	Supportive	Autosomal dominant
undetermined early-onset epileptic encephalopathy	Supportive	Autosomal dominant
intellectual disability	Limited	Autosomal dominant
autism spectrum disorder	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Definitive	AD

Mondo (22): early-infantile DEE (MONDO:0800491), spastic ataxia (MONDO:0017845), intellectual disability (MONDO:0001071), developmental and epileptic encephalopathy (MONDO:0100620), developmental and epileptic encephalopathy, 4 (MONDO:0012812), infantile epilepsy syndrome (MONDO:0020071), prostate cancer (MONDO:0008315), neurodevelopmental disorder (MONDO:0700092), infantile spasms (MONDO:0018097), strabismus (MONDO:0003432), isolated cerebellar hypoplasia/agenesis (MONDO:0008939), autism (MONDO:0005260), neurodegenerative disease (MONDO:0005559), cerebellar ataxia (MONDO:0000437), microcephaly (MONDO:0001149)

Orphanet (15): Early infantile developmental and epileptic encephalopathy (Orphanet:1934), Spastic ataxia (Orphanet:316226), Dravet syndrome (Orphanet:33069), STXBP1-related encephalopathy (Orphanet:599373), Familial prostate cancer (Orphanet:1331), West syndrome (Orphanet:3451), Infantile epileptic spasms syndrome (Orphanet:697160), Isolated cerebellar agenesis (Orphanet:1398), Cerebellar hypoplasia-tapetoretinal degeneration syndrome (Orphanet:2246), Rare ataxia (Orphanet:102002), Multiple congenital anomalies/dysmorphic syndrome (Orphanet:68341), Early myoclonic encephalopathy (Orphanet:1935), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), OBSOLETE: Infantile epilepsy syndrome (Orphanet:98258), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

97 total (30 of 97 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000046	Small scrotum
HP:0000054	Micropenis
HP:0000077	Abnormality of the kidney
HP:0000160	Narrow mouth
HP:0000233	Thin vermilion border
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000293	Full cheeks
HP:0000311	Round face
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000414	Bulbous nose
HP:0000421	Epistaxis
HP:0000445	Wide nose
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000506	Telecanthus
HP:0000708	Atypical behavior
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000752	Hyperactivity
HP:0000954	Single transverse palmar crease
HP:0001009	Telangiectasia
HP:0001151	Impaired horizontal smooth pursuit
HP:0001249	Intellectual disability
HP:0001250	Seizure

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST009200_7	Whole brain grey matter density	3.000000e-06
GCST010989_81	Body size at age 10	2.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010306	Grey matter density measurement
EFO:0009819	comparative body size at age 10, self-reported

MeSH disease descriptors (11)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D019636	Neurodegenerative Diseases	C10.574
D065886	Neurodevelopmental Disorders	F03.625
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
D013285	Strabismus	C10.292.562.887; C11.590.810
C562568	Cerebellar Hypoplasia (supp.)
C567404	Epileptic Encephalopathy, Early Infantile, 4 (supp.)
C564815	Spastic Ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067178 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.83	Kd	1.474	nM	CHEMBL5653589
8.83	ED50	1.474	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149521: Binding affinity to human STXBP1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0015	uM

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	4
Acetaminophen	increases expression	4
methylmercuric chloride	increases expression, affects cotreatment	3
Valproic Acid	increases expression	3
trichostatin A	affects expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Rotenone	decreases expression, increases expression	2
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
tetrahydropalmatine	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
diallyl trisulfide	increases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
pinostrobin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
bisphenol S	increases expression	1
Sunitinib	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652563	Binding	Binding affinity to human STXBP1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

11 cell lines: 9 induced pluripotent stem cell, 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A3KE	HPS3179	Induced pluripotent stem cell	Male
CVCL_A3KF	HPS3180	Induced pluripotent stem cell	Male
CVCL_A3KG	HPS3181	Induced pluripotent stem cell	Male
CVCL_A3KH	HPS3182	Induced pluripotent stem cell	Male
CVCL_A3KI	HPS3183	Induced pluripotent stem cell	Male
CVCL_A3KJ	HPS3184	Induced pluripotent stem cell	Male
CVCL_E1GI	Abcam SW480 STXBP1 KO	Cancer cell line	Male
CVCL_E4AP	Abcam U-87MG STXBP1 KO	Cancer cell line	Male
CVCL_WW34	IMSUTi001-A	Induced pluripotent stem cell	Female
CVCL_WW35	IMSUTi001-B	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
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