STXBP2 Antibody

1. Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion. PMID: 29044293
2. Among these nine polymorphisms, rs188212047 [G/T (L212F)] of STXBP2 was significantly (dominant model; P = 4.84 x 10-8; odds ratio, 2.94) associated with myocardial infarction. STXBP2 may thus be a novel susceptibility locus for myocardial infarction in Japanese. PMID: 28380445
3. STXBP2 Gene Polymorphism is associated with Hemophagocytic Lymphohistocytosis. PMID: 27513731
4. Mutation in STXBP2 gene is associated with hemophagocytic lymphohistiocytosis. PMID: 27781387
5. Data show that Munc18b overexpression increased fusion of not only newcomer secretory granule (SG), but also predocked SGs in type-2 diabetes (T2D) human and Goto-Kakizaki Rat Islets. PMID: 28163042
6. two novel mutations of STXBP2: c.184A>G and c.577A>C. c.184A>G (p.Asn62Asp) was located within a highly conserved region of the STXBP2 protein and predicted to be deleterious. PMID: 26451869
7. mutations result in severe chronic active Epstein-Barr virus disease PMID: 25947952
8. red blood cells express Munc18-2 and that erythroid cells from patients with FHL-5 exhibit intrinsic defects caused by STXBP2/Munc18-2 mutations. PMID: 26320718
9. Munc18-2(R65Q) and Munc18-2(R65W) retain the ability to interact with and stabilize STX11. However, presence of Munc18-2(R65Q/W) in patient-derived lymphocytes and forced expression in control CTLs and NK cells diminishes degranulation and cytotoxicity. PMID: 25564401
10. Data show that all but one patient with atypical familial hemophagocytic lymphohistiocytosis carried at least one splice-site mutation in UNC13D or STXBP2. PMID: 20823128
11. Munc18-2 binds the N-terminal peptide of Stx11 with a ~20-fold higher affinity than Stx3, suggesting a potential role in selective binding. PMID: 24194549
12. We report that FHL-5 neutrophils have a profound defect in granule mobilization, resulting in inadequate bacterial killing, in particular, of gram-negative Escherichia coli, but not of Staphylococcus aureus. PMID: 23687090
13. Mutations in STXBP2 do not only affect cytotoxic T lymphocytes but also cause changes in the intestinal and renal epithelium resulting in severe, osmotic diarrhea and renal proximal tubular dysfunction PMID: 23382066
14. Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity in familial hemophagocytic lymphohistiocytosis. PMID: 22336081
15. We report the largest cohort of patients with FHL5 so far, describe an extended disease spectrum, and demonstrate for the first time a clear genotype-phenotype correlation. PMID: 22451424
16. Missense and splice-site sequence variants in PRF1, MUNC13-4, and STXBP2 were found in 25 (14%) of the adult patients. The A91V-PRF1 genotype was found in 12 of these patients (48%). PMID: 21881043
17. Data show that 3 novel mutations of STXBP2 gene were confirmed. PMID: 21152410
18. Biallelic STXBP2 mutations were identified in families with familial haemophagocytic lymphohistiocytosis. PMID: 20798128
19. mutation analysis, clinical presentation, and functional analysis of NK cells in patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial hemophagocytic lymphohistiocytosis type 5 PMID: 20558610
20. STXBP2 is required at a late step of the secretory pathway for the release of cytotoxic granules by binding syntaxin 11, another component of the intracellular membrane fusion machinery. PMID: 19884660
21. binds to syntaxins 1A, 2, and 3 and regulates vesicle transport to the apical plasma membrane PMID: 12198139
22. Munc18-2 acts as a regulator of primary granule exocytosis, while Munc18-3 may preferentially regulate the fusion of secondary granules PMID: 18588921
23. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11 PMID: 19804848

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HGNC: 11445

OMIM: 601717

KEGG: hsa:6813

STRING: 9606.ENSP00000221283

UniGene: Hs.515104