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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ESYT2
extended synaptotagmin 2
Chromosome 7 · 7q36.3
NCBI Gene: 57488Ensembl: ENSG00000117868.18HGNC: HGNC:22211UniProt: A0A499FIX8
146PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneorganelle membrane contact siteendoplasmic reticulum-plasma membrane contact siteprotein bindingatrial fibrillationpulmonary vascular congestiondeficiency anemiageneralized dystonia
✦AI Summary

ESYT2 (extended synaptotagmin 2) is a multi-C2 domain membrane protein that tethers the endoplasmic reticulum (ER) to the plasma membrane, forming ER-plasma membrane contact sites (EPCS) critical for cellular function 1. ESYT2 binds glycerophospholipids and participates in lipid transport mechanisms. At lipid droplet-mitochondria-ER contact sites, ESYT2 functions within a multimeric complex with ESYT1 and VAPB to facilitate fatty acid transfer for β-oxidation; deletion of ESYT2 impairs lipid droplet-derived fatty acid oxidation and causes lipotoxic stress 1. ESYT2 recognizes activated fibroblast growth factor receptor 1 (FGFR1) through a conformation-dependent mechanism independent of receptor autophosphorylation, promoting rapid receptor internalization and ERK pathway signaling 2. In T cells, the short ESYT2 isoform recruits STIM1 to ER-PM junctions to activate store-operated Ca²⁺ entry via CRAC channels, independent of membrane-tethering functions 3. ESYT2 also regulates ANO1 calcium-dependent gating through reciprocal control of junctional phospholipids at STIM1 junctions 4. While ESYT2/ESYT3 knockout mice develop normally, corresponding embryonic fibroblasts show reduced migration and stress resistance 5. Aberrant ESYT2 splicing, producing an oncogenic long isoform (E-Syt2L), promotes papillary thyroid carcinoma metastasis 6. ESYT2 variants are associated with sarcoidosis susceptibility 7.

Sources cited
1
ESYT2 localizes to lipid droplet-mitochondria-ER contact sites and facilitates fatty acid transfer for β-oxidation; deletion impairs fatty acid oxidation and causes lipotoxic stress
PMID: 40032835
2
ESYT2 interacts with activated FGFR1 in a conformation-dependent manner and promotes rapid receptor internalization and ERK signaling
PMID: 25922075
3
The short ESYT2 isoform recruits STIM1 to ER-PM junctions to activate store-operated Ca²⁺ entry and ORAI1-STIM1 clustering in T cells
PMID: 32879390
4
ESYT2 regulates ANO1 function through reciprocal control of junctional phospholipids and PKA signaling at STIM1 junctions
PMID: 40204782
5
ESYT2/ESYT3 knockout mice develop normally but show reduced cell migration and stress resistance in vitro
PMID: 25486202
6
Aberrant ESYT2 splicing producing the long isoform (E-Syt2L) promotes papillary thyroid carcinoma metastasis
PMID: 39306227
7
ESYT2 is identified as a candidate gene associated with sarcoidosis risk in genome-wide association studies
PMID: 41466414
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.42Moderate
pulmonary vascular congestionOpen Targets
0.33Weak
deficiency anemiaOpen Targets
0.28Weak
generalized dystoniaOpen Targets
0.25Weak
age-related macular degenerationOpen Targets
0.08Suggestive
jaw diseaseOpen Targets
0.08Suggestive
adolescent idiopathic scoliosisOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
age related macular degeneration 11Open Targets
0.06Suggestive
age related macular degeneration 2Open Targets
0.06Suggestive
age related macular degeneration 4Open Targets
0.06Suggestive
age related macular degeneration 6Open Targets
0.06Suggestive
age related macular degeneration 7Open Targets
0.06Suggestive
glycoprotein storage diseaseOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ESYT3Protein interaction80%ESYT1Protein interaction79%DYNC2I1Protein interaction72%ABCA10Shared pathway50%ABCA9Shared pathway50%ABCA6Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Ovary
90%
Bone Marrow
77%
Lung
73%
Brain
58%
Liver
35%
Gene Interaction Network
Click a node to explore
ESYT2ESYT3ESYT1DYNC2I1ABCA10ABCA9ABCA6
PROTEIN STRUCTURE
Preparing viewer…
PDB4NPJ · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.44–0.68]
RankingsWhere ESYT2 stands among ~20K protein-coding genes
  • #3,103of 20,598
    Most Researched146 · top quartile
  • #5,118of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedESYT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Proximity proteomics reveals a mechanism of fatty acid transfer at lipid droplet-mitochondria- endoplasmic reticulum contact sites.
PMID: 40032835
Nat Commun · 2025
1.00
2
Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.
PMID: 25922075
J Biol Chem · 2015
0.90
3
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
0.80
4
The splicing factor QKI inhibits metastasis by modulating alternative splicing of E-Syt2 in papillary thyroid carcinoma.
PMID: 39306227
Cancer Lett · 2024
0.70
5
Membrane proteome characterization of periodontal ligament cell sets from deciduous and permanent teeth.
PMID: 30499115
J Periodontol · 2019
0.60