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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ESYT3
extended synaptotagmin 3
Chromosome 3 · 3q22.3
NCBI Gene: 83850Ensembl: ENSG00000158220.15HGNC: HGNC:24295UniProt: A0FGR9
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmic side of plasma membraneorganelle membrane contact siteendoplasmic reticulum-plasma membrane contact siteprotein bindingmathematical abilitydiabetes mellitusHodgkins lymphomaCachexia
✦AI Summary

ESYT3 (Extended Synaptotagmin 3) is a multi-C2 domain endoplasmic reticulum membrane protein that functions as a lipid transporter at ER-plasma membrane contact sites 1. The protein creates junctions between the ER and plasma membrane to facilitate calcium-dependent exchange of glycerophospholipids between apposed membranes 1. ESYT3 can hetero- and homodimerize with other Extended Synaptotagmins and binds phospholipids through its C2 domains 2. In epithelial cells, ESYT3 regulates ion transport by controlling phosphatidylserine levels at ER/PM nanodomains, with its lipid transfer activity and C2C domain being essential for function 3. During adipocyte differentiation, ESYT3 undergoes proteolytic cleavage and targets lipid droplets from a specialized ER structure called the primordial cisterna 4. Despite its cellular importance, ESYT3 knockout mice develop normally and remain viable, though cultured cells show reduced migration and stress resistance 1. Clinically, ESYT3 variants have been associated with coronary artery disease in Han Chinese females 5, lung adenocarcinoma prognosis 6, and foveal hypoplasia features 78. In mice, ESYT3 depletion improved chloride flux and fluid secretion in salivary glands and pancreatic ducts 3.

Sources cited
1
ESYT3 is a multi-C2 domain ER membrane protein that creates ER-PM junctions for lipid exchange and is dispensable for mouse development
PMID: 25486202
2
ESYT3 can hetero- and homodimerize with other Extended Synaptotagmins
PMID: 25922075
3
ESYT3 regulates epithelial ion transport by controlling phosphatidylserine levels at ER/PM junctions
PMID: 40425857
4
ESYT3 undergoes proteolytic cleavage during adipocyte differentiation and targets lipid droplets
PMID: 34693607
5
ESYT3 variants are associated with coronary artery disease in Han Chinese females
PMID: 21733517
6
ESYT3 expression levels correlate with lung adenocarcinoma prognosis
PMID: 37657044
7
ESYT3 rare variants are associated with foveal hypoplasia features
PMID: 40923693
8
ESYT3 is associated with foveal pit depth in genome-wide association studies
PMID: 40585125
Disease Associationsⓘ20
mathematical abilityOpen Targets
0.40Moderate
diabetes mellitusOpen Targets
0.37Weak
Hodgkins lymphomaOpen Targets
0.34Weak
CachexiaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.09Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
IRIDA syndromeOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.05Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
Pyruvate kinase hyperactivityOpen Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.05Suggestive
monosomy 7 myelodysplasia and leukemia syndrome 1Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ESYT2Protein interaction80%ESYT1Protein interaction76%ABCA10Shared pathway50%ABCA9Shared pathway50%ABCA6Shared pathway50%GRAMD2AShared pathway33%
Tissue Expression6 tissues
Lung
100%
Brain
13%
Heart
12%
Ovary
12%
Liver
4%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
ESYT3ESYT2ESYT1ABCA10ABCA9ABCA6GRAMD2A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A0FGR9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.78–1.09]
RankingsWhere ESYT3 stands among ~20K protein-coding genes
  • #13,659of 20,598
    Most Researched22
  • #11,148of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedESYT3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comprehensive analysis of the prognostic values and immune implication of ESYT3 in lung adenocarcinoma.
PMID: 37657044
Medicine (Baltimore) · 2023
1.00
2
Loss of Extended Synaptotagmins ESyt2 and ESyt3 does not affect mouse development or viability, but in vitro cell migration and survival under stress are affected.
PMID: 25486202
Cell Cycle · 2014
0.90
3
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.
PMID: 40923693
Invest Ophthalmol Vis Sci · 2025
0.80
4
The E-Syt3 cleavage and traffic uncovers the primordial cisterna, a new organelle that mothers the lipid droplets in the adipocyte.
PMID: 34693607
Traffic · 2022
0.70
5
Fine mapping of chromosome 3q22.3 identifies two haplotype blocks in ESYT3 associated with coronary artery disease in female Han Chinese.
PMID: 21733517
Atherosclerosis · 2011
0.60