ESYT3

Chr 3

extended synaptotagmin 3

Also known as: CHR3SYT, E-Syt3, FAM62C

NCBI Gene: 83850 ENSG00000158220 UniProt: A0FGR9

Predicted to enable calcium ion binding activity; phosphatidylinositol binding activity; and phospholipid binding activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering and lipid transport. Located in cytoplasmic side of plasma membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ESYT3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 34

1,179 rare PASS variants

Rare truncating (LoF)

1 in 410

257 rare PASS variants

Rare synonymous (reference)

1 in 92

451 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ESYT3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.