SYNE3
Description
The SYNE3 (spectrin repeat containing nuclear envelope family member 3) is a protein-coding gene located on chromosome 14.
SYNE3, also known as Nesprin-3, is a member of the Nesprin family of proteins. In humans, it is encoded by the SYNE3 gene. Nesprin-3 localizes to the outer nuclear membrane, where it is retained by SUN domain-containing proteins. The N-terminus of Nesprin-3 faces the cytoplasm and associates with the cytolinker protein Plectin.
SYNE3, as a component of the LINC complex, bridges the nuclear lamina and cytoskeleton, facilitating the transmission of mechanical forces across the nuclear envelope and influencing nuclear movement and positioning. This protein, likely an anchoring protein, binds to PLEC, a component of the intermediate filament system, tethering the nucleus to the cytoskeleton. SYNE3 is involved in regulating aortic epithelial cell morphology and is essential for flow-induced centrosome polarization and directional migration in aortic endothelial cells.
SYNE3 is also known as C14orf139, C14orf49, KASH3, LINC00341, NCRNA00341, NET53, Nesp3.
Associated Diseases
- cancer
- hypertriglyceridemia 2
- glycogen storage disease III
- cholesterol-ester transfer protein deficiency
- urinary bladder carcinoma
- glycogen storage disease VI
- hyperinsulinism due to INSR deficiency
