ESYT2: Extended Synaptotagmin 2
A key player in lipid transport and membrane tethering at endoplasmic reticulum-plasma membrane contact sites
Gene Information Card
| Symbol | ESYT2 |
|---|---|
| Full Name | Extended Synaptotagmin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.3 |
| NCBI Gene ID | 57488 ncbi.nlm.nih.gov/gene/57488 |
| Ensembl ID | ENSG00000106348 |
| UniProt ID | A0FGR8 |
| OMIM ID | 616577 |
| HGNC ID | 22200 |
| Aliases | E-Syt2, CHR2SYT, FAM62B, MBC2970 |
Description
ESYT2 encodes extended synaptotagmin 2, a member of the extended synaptotagmin family. This protein localizes to endoplasmic reticulum-plasma membrane (ER-PM) contact sites and mediates lipid transfer and membrane tethering. It contains an N-terminal transmembrane domain, a central SMP (synaptotagmin-like mitochondrial lipid-binding protein) domain, and multiple C2 domains that bind phospholipids and calcium. ESYT2 is involved in phosphoinositide metabolism, calcium signaling, and cellular lipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered ESYT2 expression may disrupt ER-PM contact site dynamics, affecting cell signaling and proliferation. | COSMIC; TCGA |
| Neurodevelopmental disorders | Rare variants in ESYT2 have been implicated in intellectual disability and autism spectrum disorder. | ClinVar; OMIM |
| Metabolic syndrome | ESYT2-mediated lipid transport dysfunction may contribute to insulin resistance and dyslipidemia. | NCBI Gene; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 6.1 | Low |
| Pancreas | 10.7 | Medium |
| Skeletal muscle | 18.9 | High |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| HepG2 | 16.5 | Hepatocellular carcinoma |
| MCF7 | 9.2 | Breast cancer |
| SH-SY5Y | 7.6 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1546C>T (p.Arg516Trp) | Missense | <0.01% | Likely benign |
| c.2017_2019del (p.Lys673del) | In-frame deletion | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005546 - phosphatidylinositol-4 | • 5-bisphosphate binding |
| • GO:0008289 - lipid binding | • GO:0015485 - cholesterol binding |
| • GO:0032869 - cellular response to insulin stimulus | • GO:0043001 - Golgi to plasma membrane protein transport |
| • GO:0046872 - metal ion binding | • GO:0061575 - calcium-dependent phospholipid binding |
| • GO:1903076 - regulation of protein localization to plasma membrane |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Phospholipid metabolism (Reactome: R-HSA-1483206)
• ER-PM contact sites (Reactome: R-HSA-9634638)
Protein Summary
Extended synaptotagmin 2 (E-Syt2) is a 1004-amino acid protein anchored to the endoplasmic reticulum membrane. Its SMP domain forms a hydrophobic tunnel that extracts and transfers lipids between the ER and plasma membrane. The C2 domains (C2A, C2B, C2C) mediate calcium-dependent and -independent membrane interactions. E-Syt2 is highly expressed in skeletal muscle and testis, and plays a role in insulin signaling and phosphoinositide regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESYT2 Knockout HEK293 Cell Line | EDC07553 | Human | 57488 | Details Get a Quote |
| ESYT2 Knockout A-549 Cell Line | EDJ-KQ42804 | Human | 57488 | Details Get a Quote |
| ESYT2 Knockout HCT 116 Cell Line | EDJ-KQ42805 | Human | 57488 | Details Get a Quote |
| ESYT2 Knockout HeLa Cell Line | EDJ-KQ42806 | Human | 57488 | Details Get a Quote |
| ESYT2 & ESYT3 Knockout HEK293 Cell Line | EDC07627 | Human | 57488 & 83850 | Details Get a Quote |
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