SYT11

Chr 1

synaptotagmin 11

Also known as: sytXI

NCBI Gene: 23208ENSG00000132718UniProt: Q9BT88OMIM: 608741

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010]

OMIMResearchGenerating clinical summary…

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.
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.37
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.37LOEUF
pLI 0.927
Z-score 3.05
OE 0.08 (0.03–0.37)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.68Z-score
OE missense 0.70 (0.62–0.80)
178 obs / 253.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.08 (0.03–0.37)
0≤0.351.4
Missense OE?0.70 (0.62–0.80)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 1 / 12.7Missense obs/exp: 178 / 253.4Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SYT11 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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