ESYT1

Chr 12

extended synaptotagmin 1

Also known as: FAM62A, MBC2

NCBI Gene: 23344ENSG00000139641UniProt: Q9BSJ8

Enables identical protein binding activity and phospholipid transfer activity. Involved in intermembrane lipid transfer. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.000
Z-score 4.21
OE 0.47 (0.35–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.85Z-score
OE missense 0.90 (0.84–0.97)
568 obs / 627.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.35–0.62)
0≤0.351.4
Missense OE?0.90 (0.84–0.97)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 34 / 72.8Missense obs/exp: 568 / 627.6Syn Z: 1.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ESYT1 · 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