DISEASES

Disease-gene associations mined from literature

Literature associating SYTL2 and Griscelli syndrome type 2

SYTL2 [ENSP00000318803]

Breast cancer-associated antigen SGA-72M; Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol- 4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon- containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive; Protein phosphatase 1 regulatory subunits

Synonyms:  SYTL2,  SYTL2p,  hSYTL2,  A0A024R5N9,  CHR11SYT ...

Linkouts:  STRING  Pharos  UniProt #1 #2