STXBP2 gene

syntaxin binding protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hemophagocytic lymphohistiocytosis, familial, 5

From UniProt:

Familial hemophagocytic lymphohistiocytosis 5 (FHL5): A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. [MIM:613101]

Cytogenetic Location: 19p13.2, which is the short (p) arm of chromosome 19 at position 13.2

Molecular Location: base pairs 7,637,101 to 7,647,874 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.2, which is the short (p) arm of chromosome 19 at position 13.2
  • FHL5
  • Hunc18b
  • MUNC18-2
  • pp10122
  • UNC18-2
  • UNC18B