SYN2

Chr 3AD

synapsin II

Also known as: SYNII

Synapsin II is a neuronal phosphoprotein that coats synaptic vesicles and regulates neurotransmitter release at presynaptic nerve terminals. Mutations in SYN2 are associated with susceptibility to schizophrenia and have been linked to autism, epilepsy, and bipolar disorder. The gene follows an autosomal dominant inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
AD1 OMIM phenotype
Clinical SummarySYN2
📋
ClinVar Variants
28 unique Pathogenic / Likely Pathogenic· 117 VUS of 173 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

173 submitted variants in ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic1
VUS117
Likely Benign7
Benign8
27
Pathogenic
1
Likely Pathogenic
117
VUS
7
Likely Benign
8
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
1
0
1
VUS
3
114
0
0
117
Likely Benign
0
2
2
3
7
Benign
0
4
1
3
8
Total3120316160

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SYN2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC