STXBP2

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]

Description

syntaxin binding protein 2

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

19:p13.2 (7636881 - 7647873)

Ensembl ID

ENSG00000076944  (ver. 84.38)

Orthologs

Mouse Stxbp2: ENSMUSG00000004626

UniProt

Q15833

neXtProt

NX_Q15833

Human splice variants
Mouse splice variants