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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SYN2
synapsin II
Chromosome 3 · 3p25.2
NCBI Gene: 6854Ensembl: ENSG00000157152.17HGNC: HGNC:11495UniProt: B3KRB3
60PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsynaptic vesicle membraneneurotransmitter secretionsynapse organizationhypothyroidismthyroid diseasemyxedemaAbnormality of the skeletal system
✦AI Summary

SYN2 (synapsin II) is a neuronal phosphoprotein localized to chromosome 3 that functions as a key regulator of synaptic vesicle dynamics and neurotransmitter release. SYN2 coats synaptic vesicles and binds to the cytoskeleton, playing critical roles in synaptic vesicle clustering, synapse organization, and chemical synaptic transmission. At the molecular level, SYN2 exhibits ATP binding capacity and facilitates protein-protein interactions essential for synaptic homeostasis 1. Clinically, SYN2 has emerged as a significant disease-associated gene with pleiotropic effects. Loss-of-function mutations in SYN2 (nonsense and missense variants) predispose to autism spectrum disorders, particularly in males, with female carriers remaining unaffected, suggesting sex-limited autosomal expression 1. SYN2 has been identified as a hub gene and therapeutic target in Alzheimer's disease pathogenesis, with computational studies indicating that compounds like lorediplon exhibit favorable binding interactions with SYN2 2. Additionally, SYN2 serves as a marker gene for early AD synaptic abnormality subtypes characterized by dysfunctional synaptic signaling 3. However, SYN2 genetic variants are not significantly associated with epilepsy susceptibility 4, despite functional overlap with SYN1 in regulating neurotransmitter release.

Sources cited
1
SYN2 loss-of-function mutations (nonsense and missense) cause autism spectrum disorder with sex-limited expression in males; mutations alter synaptic vesicle cycling and axon outgrowth
PMID: 23956174
2
SYN2 identified as hub gene and therapeutic target in Alzheimer's disease; lorediplon shows favorable binding with SYN2 in molecular docking studies
PMID: 37691428
3
SYN2 identified as marker gene for early Alzheimer's disease synaptic abnormality subtype with dysfunctional synaptic signaling
PMID: 39650656
4
SYN2 rs3773364 A>G polymorphism shows no association with epilepsy susceptibility in case-control and meta-analysis studies
PMID: 21465568
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
hypothyroidismOpen Targets
0.53Moderate
thyroid diseaseOpen Targets
0.45Moderate
myxedemaOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
atrial fibrillationOpen Targets
0.34Weak
placental retentionOpen Targets
0.30Weak
TinnitusOpen Targets
0.29Weak
Abnormality of skin pigmentationOpen Targets
0.29Weak
smoking initiationOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.27Weak
neuroendocrine neoplasmOpen Targets
0.25Weak
malunion fractureOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.25Weak
pituitary gland diseaseOpen Targets
0.25Weak
schizophreniaOpen Targets
0.23Weak
acute laryngitisOpen Targets
0.23Weak
tracheitisOpen Targets
0.23Weak
adolescent idiopathic scoliosisOpen Targets
0.23Weak
acneOpen Targets
0.21Weak
partial epilepsyOpen Targets
0.20Weak
SchizophreniaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC17A7Protein interaction100%CPLX2Protein interaction96%SYT1Protein interaction92%DNM1Protein interaction92%GAP43Protein interaction92%VAMP2Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Ovary
5%
Heart
3%
Bone Marrow
3%
Lung
2%
Liver
0%
Gene Interaction Network
Click a node to explore
SYN2SLC17A7CPLX2SYT1DNM1GAP43VAMP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q59GM1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.90Intermediate
Observed/Expected LoF0.35 [0.24–0.54]
RankingsWhere SYN2 stands among ~20K protein-coding genes
  • #7,712of 20,598
    Most Researched60
  • #3,403of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedSYN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of early Alzheimer's disease subclass and signature genes based on PANoptosis genes.
PMID: 39650656
Front Immunol · 2024
1.00
2
Lack of association between synapsin II (SYN2) gene polymorphism and susceptibility epilepsy: a case-control study and meta-analysis.
PMID: 21465568
Synapse · 2011
0.90
3
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.
PMID: 23956174
Hum Mol Genet · 2014
0.80
4
Gene expression analysis reveals GRIN1, SYT1, and SYN2 as significant therapeutic targets and drug repurposing reveals lorazepam and lorediplon as potent inhibitors to manage Alzheimer's disease.
PMID: 37691428
J Biomol Struct Dyn · 2024
0.70
5
Mapping of synapsin II (SYN2) genes to human chromosome 3p and mouse chromosome 6 band F.
PMID: 7587399
Cytogenet Cell Genet · 1995
0.60