SV2B

Chr 15

synaptic vesicle glycoprotein 2B

Also known as: HsT19680, SLC22B2

NCBI Gene: 9899ENSG00000185518UniProt: Q7L1I2

This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]

0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SV2B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.63LOEUF
pLI 0.000
Z-score 3.20
OE 0.40 (0.26–0.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.16Z-score
OE missense 0.83 (0.76–0.92)
327 obs / 391.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.40 (0.26–0.63)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.76–0.92)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 13 / 32.7Missense obs/exp: 327 / 391.7Syn Z: 0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SV2B · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Structural basis for botulinum neurotoxin E recognition of synaptic vesicle protein 2.
Liu Z et al.·Nat Commun
2023
Cross-sectional study and bioinformatics analysis to reveal the correlations of osteoporosis in patients with Parkinson's disease.
Ma C et al.·Exp Gerontol
2023Cohort
Synaptic Vesicle Glycoprotein 2A Ligands in the Treatment of Epilepsy and Beyond.
Löscher W et al.·CNS Drugs
2016Review
DNA methylation changes that precede onset of dysplasia in advanced sessile serrated adenomas.
Liu C et al.·Clin Epigenetics
2019
Expression pattern of synaptic vesicle protein 2 (SV2) isoforms in patients with temporal lobe epilepsy and hippocampal sclerosis.
Crèvecoeur J et al.·Neuropathol Appl Neurobiol
2014Cohort
Novel targets and their functions in the prognosis of uterine corpus endometrial cancer patients.
Sui X et al.·J Appl Genet
2024Cohort
Prognostic risk model construction and molecular marker identification in glioblastoma multiforme based on mRNA/microRNA/long non-coding RNA analysis using random survival forest method.
Wang H et al.·Neoplasma
2019Functional
The 20 kDa isoform of the human growth hormone variant alters adipose and muscle gene expression differently than human growth hormone.
Young JA et al.·J Neuroendocrinol
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Activation of SV2B Inhibits Matrix-Stiffness-Induced Tumorigenesis and EMT in Glioma via FAK/PI3K/AKT Signaling Pathway.
Ma D et al.·Oncol Ther
2025
SV2B Promotes the Progression of TFE3-Rearranged Renal Cell Carcinoma by Interacting with HERC2 to Impede the Degradation of NF-κB Subunits.
Feng H et al.·Adv Sci (Weinh)
2026🔓 Open Access
SV2B is a crucial factor for early larval development in the silkworm, Bombyx mori.
Zhang Y et al.·Insect Sci
2025
Cryo-EM structure of the botulinum neurotoxin A/SV2B complex and its implications for translocation.
Khanppnavar B et al.·Nat Commun
2025🔓 Open Access
Coexistence of a novel SV2B-ALK, EML4-ALK double-fusion in a lung poorly differentiated adenocarcinoma patient and response to alectinib: a case report and literature review.
Chen H et al.·Front Oncol
2024🔓 Open AccessReview
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools