DISEASES

Disease-gene associations mined from literature

Literature associating STXBP2 and congenital diarrhea

STXBP2 [ENSP00000413606]

Syntaxin binding protein 2; Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N- ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells.

Synonyms:  STXBP2,  STXBP2p,  hSTXBP2,  M0QZ54,  M0R0D4 ...

Linkouts:  STRING  Pharos  UniProt