Aliases for STXBP2 Gene
External Ids for STXBP2 Gene
Previous GeneCards Identifiers for STXBP2 Gene
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
GeneCards Summary for STXBP2 Gene
STXBP2 (Syntaxin Binding Protein 2) is a Protein Coding gene. Diseases associated with STXBP2 include Hemophagocytic Lymphohistiocytosis, Familial, 5 and Hemophagocytic Lymphohistiocytosis, Familial, 1. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Angiopoietin Like Protein 8 Regulatory Pathway. Gene Ontology (GO) annotations related to this gene include syntaxin-1 binding and syntaxin-3 binding. An important paralog of this gene is STXBP1.
UniProtKB/Swiss-Prot Summary for STXBP2 Gene
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.