ESYT2
Description
The ESYT2 (extended synaptotagmin 2) is a protein-coding gene located on chromosome 7.
ESYT2 is a protein that in humans is encoded by the ESYT2 gene.
ESYT2 plays a crucial role in connecting the endoplasmic reticulum to the cell membrane, promoting the formation of junctions between these two structures. It binds glycerophospholipids via its barrel-like domain and may participate in cellular lipid transport. ESYT2 is involved in FGF signaling by facilitating the rapid internalization of FGFR1 activated by FGF1 binding, likely through the AP-2 complex. ESYT2 also promotes the localization of SACM1L at endoplasmic reticulum-plasma membrane contact sites (EPCS).
ESYT2 is also known as CHR2SYT, E-Syt2, FAM62B.
Associated Diseases
- glycoprotein storage disease
- hemoglobin H disease
- hemoglobin C-beta-thalassemia syndrome
- combined immunodeficiency due to OX40 deficiency
- dominant beta-thalassemia
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- erythroleukemia, familial, susceptibility to
- hereditary neutrophilia
- hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- cryohydrocytosis
