SYT1

Summary

SYT1 (synaptotagmin 1, HGNC:11509) is a protein-coding gene on chromosome 12q21.2, encoding Synaptotagmin-1 (P21579). Calcium sensor that participates in triggering neurotransmitter release at the synapse.

This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular trafficking and exocytosis. The encoded protein participates in triggering neurotransmitter release at the synapse in response to calcium binding. Mutations in this gene are associated with Baker-Gordon syndrome.

Source: NCBI Gene 6857 — RefSeq curated summary.

At a glance

• Gene–disease (curated): infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (Strong, GenCC)
• GWAS associations: 15
• Clinical variants (ClinVar): 120 total — 2 pathogenic, 13 likely-pathogenic
• Phenotypes (HPO): 72
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_005639

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11509
Approved symbol	SYT1
Name	synaptotagmin 1
Location	12q21.2
Locus type	gene with protein product
Status	Approved
Aliases	P65
Ensembl gene	ENSG00000067715
Ensembl biotype	protein_coding
OMIM	185605
Entrez	6857

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 45 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000261205, ENST00000393240, ENST00000446242, ENST00000457153, ENST00000547046, ENST00000549454, ENST00000549559, ENST00000549671, ENST00000551304, ENST00000552074, ENST00000552624, ENST00000552744, ENST00000704696, ENST00000704697, ENST00000704698, ENST00000704699, ENST00000704700, ENST00000704701, ENST00000704702, ENST00000704703, ENST00000704704, ENST00000704705, ENST00000704706, ENST00000704707, ENST00000704708, ENST00000704709, ENST00000704710, ENST00000704711, ENST00000704712, ENST00000704713, ENST00000704714, ENST00000704715, ENST00000704716, ENST00000704717, ENST00000704718, ENST00000704719, ENST00000903721, ENST00000903722, ENST00000903723, ENST00000903724, ENST00000903725, ENST00000903726, ENST00000918196, ENST00000918197, ENST00000918198, ENST00000918199, ENST00000918200, ENST00000918201, ENST00000949121, ENST00000949122, ENST00000949123, ENST00000949124

RefSeq mRNA: 10 — MANE Select: NM_005639 NM_001135805, NM_001135806, NM_001291901, NM_001415938, NM_001415939, NM_001415940, NM_001415941, NM_001415942, NM_001415943, NM_005639

CCDS: CCDS76582, CCDS9017

Canonical transcript exons

ENST00000261205 — 11 exons

Exon	Start	End
ENSE00001098488	79285787	79285971
ENSE00001164727	79217503	79217685
ENSE00001399568	79047297	79047362
ENSE00001411176	78977799	78977931
ENSE00001620152	79353502	79353619
ENSE00001657879	79444073	79444206
ENSE00003733231	79292008	79292130
ENSE00003734743	79299384	79299551
ENSE00003753589	79296069	79296236
ENSE00003992235	78864774	78865109
ENSE00003992244	79448918	79452008

Expression profiles

Bgee: expression breadth ubiquitous, 216 present calls, max score 99.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.4312 / max 2856.3692, expressed in 1035 samples.

FANTOM5 promoters (26 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127017	11.0819	613
127035	1.4169	182
127016	0.6735	178
127013	0.4513	234
127019	0.4328	87
127024	0.2815	84
127033	0.2557	91
127018	0.2336	84
127034	0.2153	53
127026	0.1816	62

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.92	gold quality
endothelial cell	CL:0000115	99.87	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.87	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.78	gold quality
orbitofrontal cortex	UBERON:0004167	99.77	gold quality
superior frontal gyrus	UBERON:0002661	99.68	gold quality
frontal pole	UBERON:0002795	99.68	gold quality
pons	UBERON:0000988	99.64	gold quality
Brodmann (1909) area 10	UBERON:0013541	99.62	gold quality
cerebellar vermis	UBERON:0004720	99.58	gold quality
CA1 field of hippocampus	UBERON:0003881	99.50	gold quality
substantia nigra pars compacta	UBERON:0001965	99.45	gold quality
occipital lobe	UBERON:0002021	99.39	gold quality
primary visual cortex	UBERON:0002436	99.39	gold quality
parietal lobe	UBERON:0001872	99.32	gold quality
postcentral gyrus	UBERON:0002581	99.24	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.04	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.00	gold quality
prefrontal cortex	UBERON:0000451	98.97	gold quality
superior vestibular nucleus	UBERON:0007227	98.94	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.89	gold quality
frontal cortex	UBERON:0001870	98.86	gold quality
frontal lobe	UBERON:0016525	98.86	gold quality
entorhinal cortex	UBERON:0002728	98.84	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.84	gold quality
cortical plate	UBERON:0005343	98.73	gold quality
paraflocculus	UBERON:0005351	98.73	gold quality
neocortex	UBERON:0001950	98.40	gold quality
cerebral cortex	UBERON:0000956	98.31	gold quality
cerebellum	UBERON:0002037	98.28	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	6011.67
E-HCAD-35	yes	5871.73
E-GEOD-180759	yes	5788.52
E-HCAD-25	yes	4519.25
E-MTAB-11121	yes	3177.56
E-HCAD-5	yes	1662.36
E-MTAB-10485	yes	1298.91
E-GEOD-93593	yes	1222.08
E-CURD-114	yes	1045.27
E-MTAB-8894	yes	1029.35
E-GEOD-137537	yes	20.27
E-CURD-119	yes	9.58
E-MTAB-7316	no	5334.59
E-HCAD-30	no	5119.68
E-CURD-10	no	376.32

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2A, PDX1, POU1F1

miRNA regulators (miRDB)

203 targeting SYT1, 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-8485	100.00	77.57	4731
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-9-5P	100.00	72.28	2361
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-513A-5P	100.00	69.77	2465
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• synaptotagmin-I expressing neuroblastoma cells require gangliosides for Botulinum neurotoxin A activity (PMID:12089155)
• both synaptotagmins I and II can interact with the syntaxin/synaptosomal-associated protein of 25 kDa (SNAP-25) dimer (PMID:14709554)
• Syt I mediates cAMP- and Ca(2+)-induced endocytosis of NHE3 through cargo recognition of NHE3 and subsequent recruitment of AP2-clathrin assembly required for membrane endocytosis. (PMID:17307723)
• The shared interface between C2A and C2B is stabilized by a network of interactions between residues on the C-terminal alpha-helix of the C2B domain and residues on loops 1-3 of the Ca2+-binding region of C2A. (PMID:17956130)
• These findings provide new information in the epileptogenesis of refractory epilepsy, and suggest that Synaptotagmin I might be involved in human refractory epilepsy. (PMID:18779938)
• mechanical stability of the C2A and C2B domains of human Syt1 (PMID:19186144)
• NMR characterization of copper and lipid interactions of the C2B domain of synaptotagmin I-relevance to the non-classical secretion of the human acidic fibroblast growth factor (hFGF-1). (PMID:19835837)
• intestinal epithelial Syt 1 plays an important role in cAMP-stimulated endocytosis of apical NHE3 through cAMP-dependent phosphorylation of S605 that is required for NHE3 and Syt 1 association (PMID:19926819)
• association between serum creatinine level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12 (PMID:20222955)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• The calcium binding site to the C2A domain of SYT1 has been identified; this SYT1 domain activates exocytosis of secretory vesicles during neurotransmitter release. (PMID:22475172)
• Together with synaptotagmin 1, complexin synchronizes and stimulates rapid fusion of accumulated docked vesicles in response to physiological Ca(2+) concentrations. (PMID:22705946)
• The mechanistic basis for C2A domain of synaptotagmin I’s response to Ca(2+) and cellular function stems from marginal stability and ligand-induced redistributions of protein conformers. (PMID:22853901)
• The membrane dissociation of SYT7 C2A domain but not SYT1 C2A domain is slowed by Na(2)SO(4) and trehalose, solutes that enhance the hydrophobic effect. (PMID:22966849)
• Characterization of negative coupling interaction between the C2 domains of Syt I. (PMID:23071627)
• PRIP inhibits regulated exocytosis through the interaction of its C2 domain with syntaxin 1 and SNAP-25, potentially competing with accessory proteins such as synaptotagmin I and by directly inhibiting trans-SNARE complex formation (PMID:23341457)
• synaptotagmin-1 is involved in a rapid vesicular Ca(2) sequestration through a Ca(2)/H antiport (PMID:23607712)
• Hydrophobic interactions play a key role in Syt1 binding botulinum neurotoxin DC. (PMID:23932591)
• Structural insights into the Ca2+ and PI(4,5)P2 binding modes of the C2 domains of rabphilin 3A and synaptotagmin 1. (PMID:24302762)
• Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements. (PMID:24505276)
• Data suggest that calcium-dependent phosphatidylinositol 4,5-diphosphate- (PI(4,5)P2-) binding proteins (such as SYT1, PRKCA [protein kinase C alpha], and ANXA2 [annexin A2]) interactions with membrane microdomains are tightly regulated. [REVIEW] (PMID:25233429)
• A dominant negative de novo SYT1 missense variant(I368T)altered the kinetics of synaptic vesicle endocytosis and caused an early onset dyskinetic movement disorder, severe motor delay, and profound cognitive impairment. (PMID:25705886)
• membrane tethering by E-Syt1 (ER to PM) and by synaptotagmin (secretory vesicles to PM) undergo a similar regulation by plasma membrane lipids and cytosolic Ca(2+). (PMID:26202220)
• These findings identify Syt1 as a novel Ca(2+)-sensitive PS1 modulator that could regulate synaptic ABETA, opening avenues for novel and selective synapse targeting therapeutic strategies. (PMID:27036734)
• the extended synaptotagmins (E-Syts), endoplasmic reticulum (ER) proteins that function as PtdIns(4,5)P2- and Ca(2+)-regulated tethers to the Pplasma membrane. (PMID:27065097)
• One-Step reverse transcriptase real time PCR for the detection SYT-SSX transcript is feasible as an aid in confirming the diagnosis of synovial sarcoma. (PMID:27126659)
• Using electron microscopy combined with targeted mutations, the authors show that under physiologically relevant conditions, both the Syt1 ring assembly and its rapid disruption by Ca(2+) involve the well-established functional surfaces on the C2B domain that are important for synaptic transmission. (PMID:27434670)
• SYT-SSX fusion is associated with synovial sarcoma. (PMID:27621063)
• This study found that the CSF levels of synaptotagmin-1 were consistently elevated in patients with dementia due to Alzheimer’s disease. (PMID:27716408)
• Data indicate that small protein sequence changes in the Ca(2+)-binding loops of the C2 domains may give rise to the difference in binding kinetics between Syt-1 and Syt-7 isoforms. (PMID:27997124)
• The present study replicates previously suggested association of the SYT1-rs2251214 SNP with ADHD in adults. (PMID:28130000)
• that reduction in the synaptotagmin 1 level and presenilin 1-synaptotagmin 1 interactions in AD brain may present molecular underpinning of the pathogenic presenilin 1 conformation (PMID:28193235)
• SYT1-rs2251214 was associated with categorical short-term response to immediate-release methylphenida (IR-MPH) and with percentage of inattention and oppositional defiant disorder symptoms reduction. It was also associated with short-term treatment persistence and with months of treatment the long-term protocol, suggesting that SYT1-rs2251214 presents a broad influence in IR-MPH response variability in adults with ADHD (PMID:28461697)
• Although both otoferlin and synaptotagmin bind membrane fusion SNARE proteins, only otoferlin interacts with the L-type calcium channel Cav1.3. (PMID:28696301)
• Circular oligomerization is an intrinsic property of SYT1. (PMID:28850328)
• The MD simulations revealed that all peptides induced significant Syt1 rigidity by binding in the cleft of the C2A-C2B interface. The consequence of this binding event is the suppression of the protein motion associated with conformational change of Syt1 from the closed form to the open form. (PMID:29019108)
• findings show extended Synaptotagmi1 (E-Syt1), along with related E-Syt3, negatively modulates viral release into the extracellular milieu, cell-to-cell viral spread and viral entry, processes that implicate membrane fusion events; , these E-Syt proteins impacted formation of virus-induced syncytia; findings hint at the modulation of the viral fusion machinery by the E-Syt family of proteins (PMID:29046455)
• This result demonstrates that the choice of detergent used to reconstitute Syt1 can modulate the state of the neuronal Ca(2+) -sensor. (PMID:29500903)
• Studies indicate that synaptotagmin 1 (Syt1) has two main groups of binding partners: anionic phospholipids and the SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) complex after vesicle docking [Review]. (PMID:30004579)
• The fatty acylated region of synaptotagmin-1 is likely to adopt beta-structure in biological membranes. This preference for beta-structure versus alpha-helix has functional implications for the role of synaptotagmin-1 in synaptic vesicle exocytosis. (PMID:30615859)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	syt1a	ENSDARG00000030614
danio_rerio	syt1b	ENSDARG00000042350
mus_musculus	Syt1	ENSMUSG00000035864
rattus_norvegicus	Syt1	ENSRNOG00000006426

Paralogs (31): SYT7 (ENSG00000011347), SYT13 (ENSG00000019505), RPH3A (ENSG00000089169), SYTL4 (ENSG00000102362), SYT17 (ENSG00000103528), SYT10 (ENSG00000110975), SYT5 (ENSG00000129990), SYT11 (ENSG00000132718), SYT4 (ENSG00000132872), SYT6 (ENSG00000134207), SYTL2 (ENSG00000137501), SYT16 (ENSG00000139973), SYTL1 (ENSG00000142765), SYT14 (ENSG00000143469), SYT2 (ENSG00000143858), SYTL5 (ENSG00000147041), SYT8 (ENSG00000149043), DOC2A (ENSG00000149927), SYTL3 (ENSG00000164674), TC2N (ENSG00000165929), SYT9 (ENSG00000170743), SYT12 (ENSG00000173227), RPH3AL (ENSG00000181031), C2CD4C (ENSG00000183186), C2CD4A (ENSG00000198535), SYT15 (ENSG00000204176), C2CD4B (ENSG00000205502), SYT3 (ENSG00000213023), C2CD4D (ENSG00000225556), DOC2B (ENSG00000272636), SYT15B (ENSG00000277758)

Protein

Protein identifiers

Synaptotagmin-1 — P21579 (reviewed: P21579)

Alternative names: Synaptotagmin I, p65

All UniProt accessions (15): P21579, A0A994J4M1, A0A994J4M5, A0A994J4V0, A0A994J4V4, A0A994J5A7, A0A994J776, A0A994J784, A0A994J7L5, C9JX50, F8VXH0, F8VYH8, F8VZY3, F8W1U9, J3KQA0

UniProt curated annotations — full annotation on UniProt →

Function. Calcium sensor that participates in triggering neurotransmitter release at the synapse. May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2. Plays a role in dendrite formation by melanocytes.

Subunit / interactions. Homotetramer. Heterodimer; heterodimerizes with SYT2 in presence of calcium. Interacts with SCAMP5. Interacts with STON2. Forms a complex with SV2B, syntaxin 1 and SNAP25. Interacts with SV2A, SV2B and SV2C. Interacts with RIMS1. Interacts with PRRT2. Interacts with DNAJC5 in a phosphorylation-dependent manner. Interacts (via N-terminus) with RAB3A. Interacts with SYT12. Interacts with calmodulin. Interacts with DNM1 (via C-terminal proline-rich domain (PRD)); this interaction facilitates vesicle fission during clathrin-mediated endocytosis (CME).

Subcellular location. Cytoplasmic vesicle. Secretory vesicle membrane. Secretory vesicle. Synaptic vesicle membrane. Chromaffin granule membrane. Cytoplasm.

Tissue specificity. Expressed in melanocytes.

Post-translational modifications. Glycosylated.

Disease relevance. Baker-Gordon syndrome (BAGOS) [MIM:618218] An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 3 Ca(2+) ions per subunit. The ions are bound to the C2 domains.

Domain organisation. The first C2 domain mediates Ca(2+)-dependent phospholipid binding. The second C2 domain mediates interaction with SV2A and probably with STN2.

Similarity. Belongs to the synaptotagmin family.

RefSeq proteins (10): NP_001129277, NP_001129278, NP_001278830, NP_001402867, NP_001402868, NP_001402869, NP_001402870, NP_001402871, NP_001402872, NP_005630* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR001565	Synaptotagmin	Domain
IPR035892	C2_domain_sf	Homologous_superfamily

Pfam: PF00168

UniProt features (77 total): binding site 22, strand 20, helix 7, modified residue 5, lipid moiety-binding region 5, sequence variant 5, turn 3, topological domain 2, domain 2, region of interest 2, chain 1, transmembrane region 1, glycosylation site 1, compositionally biased region 1

Structure

Experimental structures (PDB)

24 structures.

PDB	Method	Resolution (Å)
6TZ3	X-RAY DIFFRACTION	1.17
6U4U	X-RAY DIFFRACTION	1.3
3F04	X-RAY DIFFRACTION	1.35
7TUA	X-RAY DIFFRACTION	1.35
3F00	X-RAY DIFFRACTION	1.36
3F05	X-RAY DIFFRACTION	1.4
6U4W	X-RAY DIFFRACTION	1.4
7U4Q	X-RAY DIFFRACTION	1.56
3F01	X-RAY DIFFRACTION	1.7
6U41	X-RAY DIFFRACTION	1.7
4V11	X-RAY DIFFRACTION	1.95
6G5K	X-RAY DIFFRACTION	2
6QNS	X-RAY DIFFRACTION	2.4
6G5F	X-RAY DIFFRACTION	2.5
6ZVN	X-RAY DIFFRACTION	2.5
4ISQ	X-RAY DIFFRACTION	2.65
2R83	X-RAY DIFFRACTION	2.7
8B8I	X-RAY DIFFRACTION	2.75
2K45	SOLUTION NMR
2K4A	SOLUTION NMR
2K8M	SOLUTION NMR
2KI6	SOLUTION NMR
2LHA	SOLUTION NMR
2N1T	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P21579-F1	82.44	0.58

Antibody-complex structures (SAbDab): 1 — 8B8I

Functional residue map

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

Ligand- & substrate-binding residues (22): 173; 173; 179; 231; 231; 232; 233; 233; 233; 236; 237; 239 …

Post-translational modifications (10): 129, 230, 265, 343, 345, 75, 76, 78, 80, 83

Glycosylation sites (1): 25

Function

Pathways and Gene Ontology

Reactome pathways

22 pathways

ID	Pathway
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-5250958	Toxicity of botulinum toxin type B (botB)
R-HSA-5250989	Toxicity of botulinum toxin type G (botG)
R-HSA-6794361	Neurexins and neuroligins
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-888590	GABA synthesis, release, reuptake and degradation
R-HSA-112310	Neurotransmitter release cycle
R-HSA-112315	Transmission across Chemical Synapses
R-HSA-112316	Neuronal System
R-HSA-1643685	Disease
R-HSA-168799	Neurotoxicity of clostridium toxins
R-HSA-199991	Membrane Trafficking
R-HSA-5339562	Uptake and actions of bacterial toxins
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5663205	Infectious disease
R-HSA-6794362	Protein-protein interactions at synapses
R-HSA-9824439	Bacterial Infection Pathways

MSigDB gene sets: 620 (showing top): AGGAAGC_MIR5163P, GOBP_REGULATION_OF_VESICLE_FUSION, AAGCAAT_MIR137, HORIUCHI_WTAP_TARGETS_DN, FREAC2_01, MODY_HIPPOCAMPUS_POSTNATAL, MODULE_274, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_VESICLE_LOCALIZATION, TGCACTT_MIR519C_MIR519B_MIR519A, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC

GO Biological Process (31): detection of calcium ion (GO:0005513), vesicle fusion (GO:0006906), chemical synaptic transmission (GO:0007268), neurotransmitter secretion (GO:0007269), vesicle organization (GO:0016050), vesicle-mediated transport (GO:0016192), regulation of exocytosis (GO:0017157), regulation of calcium ion-dependent exocytosis (GO:0017158), cell differentiation (GO:0030154), positive regulation of dopamine secretion (GO:0033603), obsolete vesicle docking (GO:0048278), positive regulation of synaptic transmission (GO:0050806), protein heterooligomerization (GO:0051291), regulation of synaptic transmission, glutamatergic (GO:0051966), spontaneous neurotransmitter secretion (GO:0061669), cellular response to calcium ion (GO:0071277), synchronous neurotransmitter secretion (GO:0071911), fast, calcium ion-dependent exocytosis of neurotransmitter (GO:0098746), calcium-dependent activation of synaptic vesicle fusion (GO:0099502), membraneless organelle assembly (GO:0140694), positive regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903235), regulation of regulated secretory pathway (GO:1903305), positive regulation of dendrite extension (GO:1903861), regulation of synaptic vesicle exocytosis (GO:2000300), regulation of dopamine secretion (GO:0014059), synaptic vesicle exocytosis (GO:0016079), regulation of vesicle fusion (GO:0031338), positive regulation of vesicle fusion (GO:0031340), positive regulation of calcium ion-dependent exocytosis (GO:0045956), calcium ion-regulated exocytosis of neurotransmitter (GO:0048791), response to calcium ion (GO:0051592)

GO Molecular Function (20): SNARE binding (GO:0000149), phosphatidylserine binding (GO:0001786), calcium ion binding (GO:0005509), calmodulin binding (GO:0005516), phospholipid binding (GO:0005543), calcium-dependent phospholipid binding (GO:0005544), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), lipid binding (GO:0008289), syntaxin-1 binding (GO:0017075), clathrin binding (GO:0030276), syntaxin-3 binding (GO:0030348), identical protein binding (GO:0042802), protein heterodimerization activity (GO:0046982), calcium-dependent protein binding (GO:0048306), low-density lipoprotein particle receptor binding (GO:0050750), calcium ion sensor activity (GO:0061891), molecular condensate scaffold activity (GO:0140693), protein binding (GO:0005515), syntaxin binding (GO:0019905), metal ion binding (GO:0046872)

GO Cellular Component (31): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), postsynaptic density (GO:0014069), axon (GO:0030424), clathrin-coated endocytic vesicle membrane (GO:0030669), synaptic vesicle membrane (GO:0030672), dense core granule (GO:0031045), chromaffin granule membrane (GO:0042584), presynaptic membrane (GO:0042734), neuron projection (GO:0043005), neuron projection terminus (GO:0044306), postsynaptic membrane (GO:0045211), presynaptic active zone (GO:0048786), excitatory synapse (GO:0060076), clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201), clathrin-sculpted glutamate transport vesicle membrane (GO:0060203), clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202), clathrin-sculpted monoamine transport vesicle membrane (GO:0070083), exocytic vesicle (GO:0070382), hippocampal mossy fiber to CA3 synapse (GO:0098686), glutamatergic synapse (GO:0098978), presynaptic cytosol (GO:0099523), postsynaptic cytosol (GO:0099524), endomembrane system (GO:0012505), membrane (GO:0016020), secretory granule (GO:0030141), transport vesicle membrane (GO:0030658), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Neurotransmitter release cycle	6
Neurotoxicity of clostridium toxins	2
Protein-protein interactions at synapses	1
Clathrin-mediated endocytosis	1
Membrane Trafficking	1
Transmission across Chemical Synapses	1
Neuronal System	1
Uptake and actions of bacterial toxins	1
Vesicle-mediated transport	1
Bacterial Infection Pathways	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	5
clathrin-coated vesicle membrane	5
presynapse	4
cellular anatomical structure	3
transport vesicle membrane	3
response to calcium ion	2
chemical synaptic transmission	2
modulation of chemical synaptic transmission	2
neurotransmitter secretion	2
phospholipid binding	2
binding	2
syntaxin binding	2
calcium ion binding	2
neuron projection	2
synaptic membrane	2
detection of chemical stimulus	1
vesicle organization	1
vesicle-mediated transport	1
organelle membrane fusion	1
anterograde trans-synaptic signaling	1
neurotransmitter transport	1
establishment of localization in cell	1
signal release from synapse	1
organelle organization	1
transport	1
cellular process	1
exocytosis	1
regulation of vesicle-mediated transport	1
regulation of secretion by cell	1
calcium-ion regulated exocytosis	1
regulation of regulated secretory pathway	1
cellular developmental process	1
dopamine secretion	1
regulation of dopamine secretion	1
positive regulation of catecholamine secretion	1
positive regulation of cell communication	1
positive regulation of signaling	1
protein complex oligomerization	1
synaptic transmission, glutamatergic	1
spontaneous synaptic transmission	1

Protein interactions and networks

STRING

2866 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SYT1	SNAP25	P13795	998
SYT1	VAMP2	P19065	989
SYT1	STX1A	Q16623	986
SYT1	CPLX1	O14810	985
SYT1	S100A13	Q99584	982
SYT1	SV2A	Q7L0J3	928
SYT1	SYP	P08247	926
SYT1	STON2	Q8WXE9	911
SYT1	STXBP1	P61764	891
SYT1	UNC13B	O14795	887
SYT1	SPHK1	Q9NYA1	880
SYT1	SYN1	P17600	862
SYT1	RAB3A	P20336	853
SYT1	STX1B	P61266	848
SYT1	UNC13A	Q9UPW8	848

IntAct

112 interactions, top by confidence:

A	B	Type	Score
SYT1	SYT2	psi-mi:“MI:0915”(physical association)	0.710
IKBKG	SYT1	psi-mi:“MI:0915”(physical association)	0.630
SYT1	GIMAP5	psi-mi:“MI:0915”(physical association)	0.560
SYT1	TMEM14C	psi-mi:“MI:0915”(physical association)	0.560
SYT1	HMOX2	psi-mi:“MI:0915”(physical association)	0.560
SYT1	MIP	psi-mi:“MI:0915”(physical association)	0.560
SYT1	UBIAD1	psi-mi:“MI:0915”(physical association)	0.560
SYT1	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
ZFPL1	SYT1	psi-mi:“MI:0915”(physical association)	0.560
CYB5B	SYT1	psi-mi:“MI:0915”(physical association)	0.560
SYT1	TMEM254	psi-mi:“MI:0915”(physical association)	0.560
SYT1	BNIP2	psi-mi:“MI:0915”(physical association)	0.560
SYT1	TMEM60	psi-mi:“MI:0915”(physical association)	0.560
SYT1	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
SYT1	NAPB	psi-mi:“MI:0915”(physical association)	0.560
CACNB4	SYT1	psi-mi:“MI:0915”(physical association)	0.530
CACNB4	SYT1	psi-mi:“MI:0407”(direct interaction)	0.530
SYT1	PGK2	psi-mi:“MI:0914”(association)	0.530
SYT5	SYT1	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
CD63	LGALS8	psi-mi:“MI:0914”(association)	0.530
SYT1	SYT5	psi-mi:“MI:0914”(association)	0.530
TSHR	SYT1	psi-mi:“MI:0915”(physical association)	0.510
SYT1	TSHR	psi-mi:“MI:0915”(physical association)	0.510
STON2	SYT1	psi-mi:“MI:0403”(colocalization)	0.490

BioGRID (117): SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT2 (Affinity Capture-MS), VLDLR (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), CWC22 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS)

ESM2 similar proteins: A0A075F932, A8KBH6, F1LM93, K8FE10, O08625, O08835, P04409, P05126, P05130, P05696, P05771, P05772, P10102, P13217, P17252, P20444, P21521, P21579, P21707, P24505, P24506, P24507, P25455, P29101, P34693, P40749, P41823, P46096, P46097, P47191, P47861, P48018, P50232, P68403, P68404, P70169, P70610, P90980, Q14184, Q5FWL4

Diamond homologs: A0A075F932, A0FGR8, A4IJ05, K8FE10, O00445, O00750, O08625, O08835, O35681, O43581, P04409, P05128, P05129, P05130, P05696, P10102, P10829, P13677, P17252, P20444, P21521, P21579, P21707, P24505, P24506, P24507, P29101, P34693, P40748, P40749, P41823, P41885, P46096, P46097, P47191, P47708, P47709, P47861, P48018, P50232

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
SYT1	“up-regulates activity”	SNAP25	binding
calcium(2+)	“up-regulates activity”	SYT1	“chemical activation”
SNAP91	“up-regulates quantity”	SYT1	binding
STON2	“up-regulates quantity”	SYT1	binding
SV2A	“up-regulates quantity”	SYT1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
regulation of heart rate by cardiac conduction	5	24.3×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	13
Uncertain significance	70
Likely benign	14
Benign	4

Top pathogenic / likely-pathogenic (15)

Variant ID	HGVS	Classification
1164047	NM_005639.3(SYT1):c.1198C>T (p.Arg400Ter)	Pathogenic
977145	NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu)	Pathogenic
1064864	NM_005639.3(SYT1):c.476T>G (p.Leu159Arg)	Likely pathogenic
1309093	NM_005639.3(SYT1):c.1093T>C (p.Tyr365His)	Likely pathogenic
1705448	NM_005639.3(SYT1):c.1101_1103dup (p.Lys367_Ile368insMet)	Likely pathogenic
1709375	NM_005639.3(SYT1):c.920G>A (p.Gly307Asp)	Likely pathogenic
1878431	NM_005639.3(SYT1):c.551T>C (p.Val184Ala)	Likely pathogenic
3377237	NM_005639.3(SYT1):c.911A>T (p.Asp304Val)	Likely pathogenic
3382844	NM_005639.3(SYT1):c.931C>T (p.Pro311Ser)	Likely pathogenic
3778759	NM_005639.3(SYT1):c.935A>G (p.Tyr312Cys)	Likely pathogenic
3897604	NM_005639.3(SYT1):c.724G>A (p.Gly242Arg)	Likely pathogenic
4813319	NM_005639.3(SYT1):c.352_810+1del	Likely pathogenic
4813972	GRCh37/hg19 12q21.2(chr12:79685787-79693331)x1	Likely pathogenic
521149	NM_005639.3(SYT1):c.1090G>A (p.Asp364Asn)	Likely pathogenic
828098	NM_005639.3(SYT1):c.1100_1102dup (p.Lys367dup)	Likely pathogenic

SpliceAI

4772 predictions. Top by Δscore:

Variant	Effect	Δscore
12:78865107:CAGG:C	donor_loss	1.0000
12:78865108:AGGT:A	donor_loss	1.0000
12:78865109:GGTA:G	donor_loss	1.0000
12:78865110:G:GC	donor_loss	1.0000
12:78865111:T:G	donor_loss	1.0000
12:79047363:G:GG	donor_gain	1.0000
12:79100948:A:G	donor_gain	1.0000
12:79217497:TCACA:T	acceptor_loss	1.0000
12:79217498:CACAG:C	acceptor_loss	1.0000
12:79217499:A:AG	acceptor_gain	1.0000
12:79217499:ACAGC:A	acceptor_loss	1.0000
12:79217500:C:G	acceptor_gain	1.0000
12:79217500:CAGCT:C	acceptor_loss	1.0000
12:79217501:A:AG	acceptor_gain	1.0000
12:79217501:A:T	acceptor_loss	1.0000
12:79217502:G:C	acceptor_loss	1.0000
12:79217502:G:GT	acceptor_gain	1.0000
12:79217502:GC:G	acceptor_gain	1.0000
12:79217502:GCT:G	acceptor_gain	1.0000
12:79217502:GCTT:G	acceptor_gain	1.0000
12:79217502:GCTTC:G	acceptor_gain	1.0000
12:79217624:A:T	donor_gain	1.0000
12:79217628:G:GT	donor_gain	1.0000
12:79217684:ATGT:A	donor_loss	1.0000
12:79217685:TGT:T	donor_loss	1.0000
12:79217686:G:GG	donor_gain	1.0000
12:79217687:TGA:T	donor_loss	1.0000
12:79217688:GAGTA:G	donor_loss	1.0000
12:79285785:A:AG	acceptor_gain	1.0000
12:79285786:G:GA	acceptor_gain	1.0000

AlphaMissense

2802 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:79292086:G:A	G144R	1.000
12:79292086:G:C	G144R	1.000
12:79292087:G:A	G144E	1.000
12:79292087:G:T	G144V	1.000
12:79292093:T:C	L146P	1.000
12:79292101:T:C	S149P	1.000
12:79292105:T:C	L150P	1.000
12:79292110:T:G	Y152D	1.000
12:79292116:T:C	F154L	1.000
12:79292118:C:A	F154L	1.000
12:79292118:C:G	F154L	1.000
12:79296070:T:C	L159P	1.000
12:79296090:G:C	A166P	1.000
12:79296091:C:A	A166D	1.000
12:79296100:T:A	L169Q	1.000
12:79296100:T:C	L169P	1.000
12:79296100:T:G	L169R	1.000
12:79296111:G:A	D173N	1.000
12:79296111:G:C	D173H	1.000
12:79296112:A:C	D173A	1.000
12:79296112:A:G	D173G	1.000
12:79296112:A:T	D173V	1.000
12:79296113:C:A	D173E	1.000
12:79296113:C:G	D173E	1.000
12:79296126:T:C	S178P	1.000
12:79296127:C:A	S178Y	1.000
12:79296127:C:T	S178F	1.000
12:79296129:G:C	D179H	1.000
12:79296130:A:C	D179A	1.000
12:79296130:A:G	D179G	1.000

dbSNP variants (sampled 300 via entrez): RS1000002597 (12:79141648 C>G), RS1000007294 (12:79229212 G>A), RS1000010001 (12:79185487 T>C), RS1000021074 (12:79209356 G>A), RS1000025034 (12:79029733 A>T), RS1000028579 (12:79376197 G>A), RS1000029187 (12:79344267 T>G), RS1000034253 (12:79069766 C>T), RS1000036691 (12:79229556 A>G), RS1000048683 (12:79246311 C>T), RS1000049957 (12:79388882 CAT>C), RS1000050788 (12:78918100 T>C), RS1000059798 (12:79376490 G>T), RS1000063140 (12:78900668 A>G), RS1000081221 (12:79423093 G>A)

Disease associations

OMIM: gene MIM:185605 | disease phenotypes: MIM:618218

GenCC curated gene-disease

Disease	Classification	Inheritance
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	Strong	Autosomal dominant

Mondo (3): infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (MONDO:0033864), neurodevelopmental disorder (MONDO:0700092), syndromic intellectual disability (MONDO:0000508)

Orphanet (2): Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (Orphanet:522077), Rare genetic syndromic intellectual disability (Orphanet:183763)

HPO phenotypes

72 total (30 of 72 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000219	Thin upper lip vermilion
HP:0000244	Brachyturricephaly
HP:0000286	Epicanthus
HP:0000319	Smooth philtrum
HP:0000348	High forehead
HP:0000349	Widow’s peak
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000540	Hypermetropia
HP:0000565	Esotropia
HP:0000639	Nystagmus
HP:0000713	Agitation
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000739	Anxiety
HP:0000742	Self-mutilation
HP:0000817	Reduced eye contact
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001263	Global developmental delay
HP:0001266	Choreoathetosis
HP:0001270	Motor delay
HP:0001319	Neonatal hypotonia
HP:0001332	Dystonia
HP:0001344	Absent speech
HP:0001382	Joint hypermobility
HP:0001601	Laryngomalacia
HP:0001631	Atrial septal defect
HP:0001760	Abnormal foot morphology

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001762_255	Obesity-related traits	3.000000e-06
GCST005235_6	Hand grip strength	1.000000e-10
GCST005316_374	Intelligence (MTAG)	2.000000e-11
GCST005752_61	Systemic lupus erythematosus	2.000000e-07
GCST006030_8	Chloride levels	2.000000e-09
GCST006032_7	Sodium levels	7.000000e-10
GCST006269_519	General cognitive ability	1.000000e-14
GCST006624_29	Systolic blood pressure	2.000000e-15
GCST007269_53	Pulse pressure	2.000000e-10
GCST008030_3	Estimated glomerular filtration rate	4.000000e-08
GCST008422_9	QRS duration	4.000000e-08
GCST008925_1	Lysophosphatidylcholine levels	1.000000e-09
GCST010057_8	Lung function	6.000000e-06
GCST010703_313	Brain morphology (MOSTest)	1.000000e-23
GCST012166_1	Adiponectin levels	2.000000e-07

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0003939	energy intake
EFO:0006941	grip strength measurement
EFO:0004337	intelligence
EFO:0009282	sodium measurement
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0010224	lysophosphatidylcholine measurement
EFO:0004312	vital capacity
EFO:0004346	neuroimaging measurement
EFO:0004502	adiponectin measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2251214	Toxicity	3	cocaine	Cocaine dependence

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2251214	SYT1	3	3.50	1	cocaine

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases expression	4
Estradiol	decreases expression, increases reaction, affects cotreatment, increases expression	4
Valproic Acid	affects expression, increases expression	4
Aflatoxin B1	affects expression, decreases expression, decreases methylation, increases methylation	4
trichostatin A	affects cotreatment, decreases expression	3
Paraquat	affects reaction, decreases response to substance, increases expression, increases cleavage, affects response to substance (+3 more)	3
arsenite	affects binding, decreases reaction, decreases expression	2
Acetaminophen	affects expression, decreases expression	2
Cisplatin	affects cotreatment, decreases expression	2
Copper	affects binding, affects secretion, increases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Tretinoin	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
lasiocarpine	decreases expression	1
O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	affects expression, affects response to substance	1
afimoxifene	decreases expression, decreases reaction	1
tobacco tar	decreases reaction, increases expression	1
diallyl disulfide	decreases reaction, increases expression	1
aflatoxin B2	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrachlostrobin	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
jinfukang	affects cotreatment, decreases expression	1
NSC 689534	increases expression, affects binding	1
Irinotecan	decreases expression	1
Temozolomide	increases expression	1
Benzo(a)pyrene	increases methylation	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A8JQ	HEK293T SYT1 KO	Transformed cell line	Female
CVCL_B3P8	HCT 116 SYT1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT07329257	Not specified	RECRUITING	Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge