Aliases for ESYT2 Gene
External Ids for ESYT2 Gene
Previous HGNC Symbols for ESYT2 Gene
Previous GeneCards Identifiers for ESYT2 Gene
GeneCards Summary for ESYT2 Gene
ESYT2 (Extended Synaptotagmin 2) is a Protein Coding gene. Diseases associated with ESYT2 include Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly and Asphyxiating Thoracic Dystrophy. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phosphatidylinositol binding. An important paralog of this gene is ESYT1.
UniProtKB/Swiss-Prot Summary for ESYT2 Gene
Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport. Plays a role in FGF signaling via its role in the rapid internalization of FGFR1 that has been activated by FGF1 binding; this occurs most likely via the AP-2 complex. Promotes the localization of SACM1L at endoplasmic reticulum-plasma membrane contact sites (EPCS) (PubMed:27044890).