STXBP2, Official Symbol STXBP2provided by HGNC Official Full Name syntaxin binding protein 2provided by HGNC Primary source HGNC:HGNC:11445 See related Ensembl:ENSG00000076944 MIM:601717; AllianceGenome:HGNC:11445 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FHL5; UNC18B; Hunc18b; UNC18-2; pp10122; unc-18B; MUNC18-2 Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 31.6), duodenum (RPKM 21.3) and 21 other tissues See more Orthologs mouse all