SV2A

Chr 1

synaptic vesicle glycoprotein 2A

Also known as: DEE113, SLC22B1, SV2

NCBI Gene: 9900ENSG00000159164UniProt: Q7L0J3

The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 113

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
4
Active trials
145
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.41
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SV2A
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.228
Z-score 4.36
OE 0.24 (0.14–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.12Z-score
OE missense 0.72 (0.66–0.79)
328 obs / 455.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.24 (0.14–0.41)
0≤0.351.4
Missense OE?0.72 (0.66–0.79)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 9 / 38.0Missense obs/exp: 328 / 455.0Syn Z: 0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SV2A · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients