STXBP2

Summary

Gene Symbol: STXBP2
Description: syntaxin binding protein 2
Alias: FHL5, Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122, syntaxin-binding protein 2, protein unc-18 homolog B, unc-18B
Species: human
Products:     STXBP2

Top Publications

  1. Ibaraki K, Horikawa H, Morita T, Mori H, Sakimura K, Mishina M, et al. Identification of four different forms of syntaxin 3. Biochem Biophys Res Commun. 1995;211:997-1005 pubmed
    ..These forms of syntaxin 3 are probably generated by alternative splicing of the primary transcript of syntaxin 3 gene. Cytoplasmic portions of syntaxins 3A and 3B but not of syntaxin 3C or 3D bound to Munc-18/n-sec1. ..
  2. Jain R, Puliyel M, Moses P, Sieni E. Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis. Indian Pediatr. 2012;49:488-90 pubmed
    ..Recently mutation in STXBP2 encoding syntaxin binding protein 2 (Munc 18 -2) has been found to be associated with FHL type 5...
  3. Côte M, Ménager M, Burgess A, Mahlaoui N, Picard C, Schaffner C, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009;119:3765-73 pubmed publisher
    ..Here, we show that the gene encoding syntaxin-binding protein 2 (Munc18-2; official gene symbol STXBP2) is mutated in another subset of patients with FHL (designated by us as "FHL5")...
  4. Zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, et al. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 2009;85:482-92 pubmed publisher
    ..STXBP2 encodes syntaxin binding protein 2 (Munc18-2), involved in the regulation of vesicle transport to the plasma membrane...
  5. Kaya Z, Bay A, Albayrak M, Kocak U, Yenicesu I, Gursel T. Prognostic Factors and Long-Term Outcome in 52 Turkish Children With Hemophagocytic Lymphohistiocytosis. Pediatr Crit Care Med. 2015;16:e165-73 pubmed publisher
    ..Mutation studies were performed in 18 of 28 patients (65%). Fourteen of them had PRF1, STX11, STXBP2, and UNC13D mutations, and four had Rab27a and LYST mutations...
  6. Esmaeilzadeh H, Bemanian M, Nabavi M, Arshi S, Fallahpour M, Fuchs I, et al. Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia. J Clin Immunol. 2015;35:22-5 pubmed publisher
    ..Herein, a patient is presented who suffered from hepatitis and atypical brain lesions. Genetic studies revealed a homozygous mutation in the STXP2 gene; and thus, the diagnosis of FHL5 was confirmed.
  7. Lyu X, Guo Z, Li Y, Fan R, Song Y. Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. BMC Med Genet. 2018;19:60 pubmed publisher
    ..e., PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. A likely pathogenic nonsense mutation was detected in SH2D1A (NM_002351.4:c.300T>A)...
  8. Mandic S, Skelin M, Johansson J, Rupnik M, Berggren P, Bark C. Munc18-1 and Munc18-2 proteins modulate beta-cell Ca2+ sensitivity and kinetics of insulin exocytosis differently. J Biol Chem. 2011;286:28026-40 pubmed publisher
    ..Hence, Munc18-1 and Munc18-2 display distinct subcellular compartmentalization and can coordinate the insulin exocytotic process differently as a consequence of the actual [Ca(2+)](i). ..
  9. Brochetta C, Suzuki R, Vita F, Soranzo M, Claver J, Madjene L, et al. Munc18-2 and syntaxin 3 control distinct essential steps in mast cell degranulation. J Immunol. 2014;192:41-51 pubmed publisher

More Information

Publications72

  1. Gutierrez B, Chavez M, Rodarte A, Ramos M, Dominguez A, Petrova Y, et al. Munc18-2, but not Munc18-1 or Munc18-3, controls compound and single-vesicle-regulated exocytosis in mast cells. J Biol Chem. 2018;293:7148-7159 pubmed publisher
    ..In conclusion, MC-regulated exocytosis is required for the anaphylactic response, and Munc18-2 is the sole Munc18 isoform that mediates membrane fusion during MC degranulation. ..
  2. Wang Y, Wang Z, Zhang J, Wei Q, Tang R, Qi J, et al. Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood. PLoS ONE. 2014;9:e107386 pubmed publisher
    ..All exons and 50 bp of flanking intronic sequence of six HLH-related genes (PRF1, UNC13D, STX11, STXBP2, SH2D1A, and BIRC4) were sequenced in these patients. We identified mutations in 18/252 (7...
  3. D Orlando O, Zhao F, Kasper B, Orinska Z, Müller J, Hermans Borgmeyer I, et al. Syntaxin 11 is required for NK and CD8⁺ T-cell cytotoxicity and neutrophil degranulation. Eur J Immunol. 2013;43:194-208 pubmed publisher
    ..Finally, we show that these mice are a very useful tool for dissecting the role of STX11 in vesicular trafficking and secretion. ..
  4. Liu R, Shi X, Li J, Hu T, Cao J, Sun Y, et al. [Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in Chinese children: a primary study on clinical characteristics and gene mutations]. Zhonghua Yi Xue Za Zhi. 2014;94:1941-6 pubmed
    ..unc-13 homolog D (UNC13D) gene, two fusion protein genes of syntaxin 11 (STX11)gene, synaptic binding protein 2 (STXBP2) gene, SH2 domain 1A (SH2D1A) gene, and the X-linked inhibitor of apoptosis protein (XIAP) gene were amplified by ..
  5. Cetica V, Hackmann Y, Grieve S, Sieni E, Ciambotti B, Coniglio M, et al. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. J Allergy Clin Immunol. 2015;135:1310-8.e1 pubmed publisher
    ..cohort with no clinical evidence of pigment dilution but no mutations in the other known FHL-related genes (PRF1, STXBP2, and UNC13D)...
  6. Bin N, Jung C, Kim B, Chandrasegram P, Turlova E, Zhu D, et al. Chaperoning of closed syntaxin-3 through Lys46 and Glu59 in domain 1 of Munc18 proteins is indispensable for mast cell exocytosis. J Cell Sci. 2015;128:1946-60 pubmed publisher
    ..Our results also indicate that the functional contribution of these residues differs between immune cell degranulation and neuronal secretion. ..
  7. Hu X, Liu D, Jiang X, Gao B, Chen C. Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report. BMC Med Genet. 2018;19:82 pubmed publisher
    ..HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2. Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene...
  8. Spessott W, Sanmillan M, McCormick M, Kulkarni V, Giraudo C. SM protein Munc18-2 facilitates transition of Syntaxin 11-mediated lipid mixing to complete fusion for T-lymphocyte cytotoxicity. Proc Natl Acad Sci U S A. 2017;114:E2176-E2185 pubmed publisher
    ..These results further support the concept that SM proteins in general are part of the core fusion machinery. This fusion mechanism likely contributes to other cell-type-specific exocytic processes such as platelet secretion. ..
  9. Dieckmann N, Hackmann Y, Aricò M, Griffiths G. Munc18-2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T-Lymphocytes. Traffic. 2015;16:1330-41 pubmed publisher
    ..Using a novel FHL5 Munc18-2 mutation that results in loss of protein, cytotoxicity and degranulation together with CTL from an FHL4 ..
  10. Rubin T, Zhang K, Gifford C, Lane A, Choo S, Bleesing J, et al. Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH. Blood. 2017;129:2993-2999 pubmed publisher
    ..HLH) can be caused by biallelic mutations in PRF1, encoding perforin, or UNC13D, STXBP2, STX11, RAB27A, LYST, and AP3B1, encoding proteins involved in cytotoxic ..
  11. Lopez J, Noori T, Minson A, Li Jovanoska L, Thia K, Hildebrand M, et al. Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing. Front Immunol. 2018;9:529 pubmed publisher
    ..Congenital loss of CL function due to bi-allelic mutations in PRF1, UNC13D, STX11, or STXBP2 leads to a potentially fatal immune dysregulation, familial haemophagocytic lymphohistiocytosis (FHL)...
  12. Cohen J. Primary Immunodeficiencies Associated with EBV Disease. Curr Top Microbiol Immunol. 2015;390:241-65 pubmed publisher
    ..Mutations in three genes associated with hemophagocytic lymphohistocytosis, PRF1, STXBP2, and UNC13D, can also predispose to severe chronic active EBV disease...
  13. Bordbar M, Modarresi F, Farazi Fard M, Dastsooz H, Shakib Azad N, Faghihi M. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis. BMC Med Genet. 2017;18:49 pubmed publisher
    ..steps play important roles in the pathogenesis of HLH disease which include PRF1, UNC13D (MUNC13-4), STX11, and STXBP2 (MUNC18-2)...
  14. Zhou X, Luo J, Bin Q, Huang X. [Expression of porforin and granzyme B in familial hemophagocytic lymphohistiocytosis]. Zhonghua Xue Ye Xue Za Zhi. 2016;37:227-32 pubmed publisher
    ..PRF1, Unc13D, STX11, STXBP2, RAB27A, LYST, SH2D1A, BIRC4 exons were amplified by PCR and followed by direct sequencing...
  15. Mukda E, Trachoo O, Pasomsub E, Tiyasirichokchai R, Iemwimangsa N, Sosothikul D, et al. Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. Int J Hematol. 2017;106:282-290 pubmed publisher
    In the present study, we used exome sequencing to analyze PRF1, UNC13D, STX11, and STXBP2, as well as genes associated with primary immunodeficiency disease (RAB27A, LYST, AP3B1, SH2D1A, ITK, CD27, XIAP, and MAGT1) in Thai children with ..
  16. Chen Y, Wang Z, Luo Z, Zhao N, Yang S, Tang Y. Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis. Ital J Pediatr. 2016;42:50 pubmed publisher
    ..disorder of immune regulation, and HLH patients with mutations in genes including PRF1, UNC13D, STX11, STXBP2, SH2D1A, XIAP, and ITK were reported to be primary HLH...
  17. Hori M, Yasumi T, Shimodera S, Shibata H, Hiejima E, Oda H, et al. A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients. J Clin Immunol. 2017;37:92-99 pubmed publisher
    ..The CD57+ CTL degranulation assay more effectively identified FHL3 patients than the NK cell-based assays. ..
  18. Tang Y, Xu X. Advances in hemophagocytic lymphohistiocytosis: pathogenesis, early diagnosis/differential diagnosis, and treatment. ScientificWorldJournal. 2011;11:697-708 pubmed publisher
    ..of molecular genetic abnormalities in genes involved in immune response pathways, such as PRF1, STX11, UNC13D, STXBP2, RAB27A, LYST, AP3B1, SH2D1A, and BIRC4, is confirmatory for the diagnosis...
  19. Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, et al. Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity. Cell Mol Life Sci. 2012;69:29-40 pubmed publisher
  20. Schraw T, Lemons P, Dean W, Whiteheart S. A role for Sec1/Munc18 proteins in platelet exocytosis. Biochem J. 2003;374:207-17 pubmed publisher
    ..These studies demonstrate a clear role for SM proteins in platelet exocytosis and aggregation and suggest a dominant role for Munc18c in all three granule-release events...
  21. Zhao X, Gazendam R, Drewniak A, van Houdt M, Tool A, van Hamme J, et al. Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. Blood. 2013;122:109-11 pubmed publisher
    ..This may accumulate into a life-threatening condition known as macrophage activation syndrome. STXBP2, also known as MUNC18-2, has recently been identified as the disease-causing gene in FHL type 5 (FHL-5)...
  22. Brochetta C, Vita F, Tiwari N, Scandiuzzi L, Soranzo M, Guérin Marchand C, et al. Involvement of Munc18 isoforms in the regulation of granule exocytosis in neutrophils. Biochim Biophys Acta. 2008;1783:1781-91 pubmed publisher
    ..Our results suggest that Munc18-2 acts as a regulator of primary granule exocytosis, while Munc18-3 may preferentially regulate the fusion of secondary granules. ..
  23. Hackmann Y, Graham S, Ehl S, Höning S, Lehmberg K, Aricò M, et al. Syntaxin binding mechanism and disease-causing mutations in Munc18-2. Proc Natl Acad Sci U S A. 2013;110:E4482-91 pubmed publisher
    ..and natural killer cell (NK) cytotoxicity, and give rise to familial hemophagocytic lymphohistiocytosis (FHL4 or FHL5, respectively)...
  24. Riento K, Kauppi M, Keranen S, Olkkonen V. Munc18-2, a functional partner of syntaxin 3, controls apical membrane trafficking in epithelial cells. J Biol Chem. 2000;275:13476-83 pubmed
    ..While one of the mutants tested had no effect, one inhibited and one enhanced the apical transport of HA. This implies that Munc18-2 function in apical membrane trafficking involves aspects independent of the syntaxin 3 interaction. ..
  25. Liu D, Hu X, Jiang X, Gao B, Wan C, Chen C. Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH. BMC Med Genet. 2017;18:135 pubmed publisher
    ..Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP were reported as causative genes in most cases...
  26. Spessott W, Sanmillan M, McCormick M, Patel N, Villanueva J, Zhang K, et al. Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. Blood. 2015;125:1566-77 pubmed publisher
    ..are caused by biallelic inactivating germline mutations in genes such as RAB27A (GS) and PRF1, UNC13D, STX11, and STXBP2 (F-HLH)...
  27. Van Niel G, Raposo G, Candalh C, Boussac M, Hershberg R, Cerf Bensussan N, et al. Intestinal epithelial cells secrete exosome-like vesicles. Gastroenterology. 2001;121:337-49 pubmed
    ..These data are consistent with a model in which IECs may influence antigen presentation in the mucosal or systemic immune system independent of direct cellular contact with effector cells. ..
  28. Stepensky P, Bartram J, Barth T, Lehmberg K, Walther P, Amann K, et al. Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations. Pediatr Blood Cancer. 2013;60:1215-22 pubmed publisher
    ..hemophagocytic lymphohistiocytosis (FHL) is a rare primary immune disorder defined by mutations in the syntaxin binding protein 2 (STXBP2) alias MUNC18-2...
  29. Pignata C, Giardino G. Immunodeficiency diagnosis: a Mondrian or Pollock scenario?. Blood. 2011;118:5714-6 pubmed publisher
  30. Zhang K, Jordan M, Marsh R, Johnson J, Kissell D, Meller J, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011;118:5794-8 pubmed publisher
    ..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%)...
  31. Vogel G, van Rijn J, Krainer I, Janecke A, Posovszky C, Cohen M, et al. Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations. JCI Insight. 2017;2: pubmed publisher
    Familial hemophagocytic lymphohistiocytosis 5 (FHL5) is an autosomal recessive disease caused by mutations in STXBP2, coding for Munc18-2, which is required for SNARE-mediated membrane fusion...
  32. Seo J, Lee K, Yoo K, Sung K, Koo H, Kim S, et al. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2. Clin Genet. 2016;89:222-7 pubmed publisher
    ..Most recently, STXBP2 has been identified as the causative gene of type 5 FHL (FHL5) with a worldwide distribution...
  33. Chen X, Zhang Y, Wang F, Wang M, Teng W, Lin Y, et al. Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma. Oncol Lett. 2017;14:5249-5256 pubmed publisher
    ..may harbor mutations in perforin 1 (PRF1), unc-13 homolog D (UNC13D), syntaxin 11 (STX11), STXBP2 (syntaxin binding protein 2) or SH2 domain containing 1A (SH2D1A), which causes functional defects of cytotoxic lymphocytes...
  34. Tellam J, Macaulay S, McIntosh S, Hewish D, Ward C, James D. Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes. Putative role in insulin-dependent movement of GLUT-4. J Biol Chem. 1997;272:6179-86 pubmed
    ..These data suggest that syntaxin-4/Munc-18c/VAMP-2 may play a role in the docking/fusion of intracellular GLUT-4-containing vesicles with the cell surface in adipocytes. ..
  35. Ziegler S, Mortrud M, Swartz A, Baker E, Sutherland G, Burmeister M, et al. Molecular characterization of a nonneuronal human UNC18 homolog. Genomics. 1996;37:19-23 pubmed
    ..The Hunc-18b gene was localized to human chromosome 19p13.2-p13.3, and the mouse homolog, Munc-18b, was mapped to the proximal region of mouse Chromosome 8. ..
  36. Houng A, Polgar J, Reed G. Munc18-syntaxin complexes and exocytosis in human platelets. J Biol Chem. 2003;278:19627-33 pubmed
    ..Acute inhibition of the SM-syntaxin complex promotes Ca2+-induced exocytosis, suggesting that complex formation per se has a regulatory effect on triggered secretion. ..
  37. Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. J Biol Chem. 2002;277:7540-5 pubmed
    ..Co-immunoprecipitation, immunolocalization, and in vitro binding experiments demonstrate that Gemin6 is a component of the SMN complex that localizes to gems and interacts with several Sm proteins of the spliceosomal snRNPs. ..
  38. Al Hawas R, Ren Q, Ye S, Karim Z, Filipovich A, Whiteheart S. Munc18b/STXBP2 is required for platelet secretion. Blood. 2012;120:2493-500 pubmed
    ..Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) is caused by defects in the Munc18b/STXBP2 gene. We confirm a previous report showing that platelets from FHL5 patients have defective secretion...
  39. Pagel J, Beutel K, Lehmberg K, Koch F, Maul Pavicic A, Rohlfs A, et al. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood. 2012;119:6016-24 pubmed publisher
    ..b>STXBP2 mutations have recently been associated with FHL5...
  40. Yeung M, Houzet L, Yedavalli V, Jeang K. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. J Biol Chem. 2009;284:19463-73 pubmed publisher
    ..Five mRNAs, NRF1, STXBP2, NCOA3, PRDM2, and EXOSC5, were studied for their effect on steps of the HIV-1 life cycle...
  41. Rae W, Ward D, Mattocks C, Gao Y, Pengelly R, Patel S, et al. Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort. Clin Transl Immunology. 2017;6:e155 pubmed publisher
    ..well as previously reported pathogenic variants in STAT3, PIK3CD, STAT1, NFKB2 and STXBP2. AI/I manifestations were frequently encountered in PIDs, including at presentation...
  42. Peng R, Guetg C, Abellan E, Fussenegger M. Munc18b regulates core SNARE complex assembly and constitutive exocytosis by interacting with the N-peptide and the closed-conformation C-terminus of syntaxin 3. Biochem J. 2010;431:353-61 pubmed publisher
  43. Bin N, Jung C, Piggott C, Sugita S. Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation. Proc Natl Acad Sci U S A. 2013;110:4610-5 pubmed publisher
    ..We also suggest that the functional importance of this region is significantly different between neuronal and immune cell exocytosis. ..
  44. Hata Y, Sudhof T. A novel ubiquitous form of Munc-18 interacts with multiple syntaxins. Use of the yeast two-hybrid system to study interactions between proteins involved in membrane traffic. J Biol Chem. 1995;270:13022-8 pubmed
    ..The lack of specificity of the interactions between syntaxins and Munc-18s indicates that specificity of membrane trafficking reactions is not dependent on this interaction. ..
  45. Kauppi M, Wohlfahrt G, Olkkonen V. Analysis of the Munc18b-syntaxin binding interface. Use of a mutant Munc18b to dissect the functions of syntaxins 2 and 3. J Biol Chem. 2002;277:43973-9 pubmed
    ..This suggests that, although syntaxin 3 is the main target SNARE operating in exocytic transport to the apical plasma membrane in certain epithelial cell types, syntaxin 2 may play an important role in this trafficking route in others. ..
  46. Martin Verdeaux S, Pombo I, Iannascoli B, Roa M, Varin Blank N, Rivera J, et al. Evidence of a role for Munc18-2 and microtubules in mast cell granule exocytosis. J Cell Sci. 2003;116:325-34 pubmed
    ..These findings suggest a role for Munc18-2 and the microtubule network in the regulation of secretory granule dynamics in mast cells. ..
  47. Meeths M, Entesarian M, Al Herz W, Chiang S, Wood S, Al Ateeqi W, et al. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. Blood. 2010;116:2635-43 pubmed publisher
    ..clinical presentation, and functional analysis of natural killer (NK) cells in patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial HLH type 5...
  48. Saltzman R, Monaco Shawver L, Zhang K, Sullivan K, Filipovich A, Orange J. Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity. J Allergy Clin Immunol. 2012;129:1666-8 pubmed publisher
  49. Nagai K, Yamamoto K, Fujiwara H, An J, Ochi T, Suemori K, et al. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. PLoS ONE. 2010;5:e14173 pubmed publisher
    ..Mutations of the newly identified causative gene for FHL5, STXBP2, and the cytotoxicity and degranulation activity of CTLs in FHL patients, were analyzed...
  50. Yamada Y, Sakuma J, Takeuchi I, Yasukochi Y, Kato K, Oguri M, et al. Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study. Oncotarget. 2017;8:33527-33535 pubmed publisher
    ..01) to myocardial infarction. Among these nine polymorphisms, rs188212047 [G/T (L212F)] of STXBP2 was significantly (dominant model; P = 4.84 × 10-8; odds ratio, 2.94) associated with myocardial infarction...
  51. Riento K, Galli T, Jansson S, Ehnholm C, Lehtonen E, Olkkonen V. Interaction of Munc-18-2 with syntaxin 3 controls the association of apical SNAREs in epithelial cells. J Cell Sci. 1998;111 ( Pt 17):2681-8 pubmed
    ..These results define a novel functional complex of Munc-18-2 and syntaxin 3 involved in the regulation of apical membrane transport. ..
  52. Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G. Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex. J Biol Chem. 2002;277:31957-62 pubmed
    ..With the identification of Gemin7, the inventory of the core components of the SMN complex appears essentially complete. ..
  53. Rohr J, Beutel K, Maul Pavicic A, Vraetz T, Thiel J, Warnatz K, et al. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica. 2010;95:2080-7 pubmed publisher
    ..T cells in 8 patients with atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2. All but one patient with atypical familial hemophagocytic lymphohistiocytosis carried at least one splice-site ..
  54. Vogel G, Klee K, Janecke A, Müller T, Hess M, Huber L. Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3. J Cell Biol. 2015;211:587-604 pubmed publisher
    ..Hence, our work demonstrates how Myo5B, Stx3, Slp4a, Vamp7, Munc18-2, and Rab8/11 cooperate during selective apical cargo trafficking and exocytosis in epithelial cells and thereby provides further insight into MVID pathophysiology. ..
  55. Yang X, Miyawaki T, Kanegane H. SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. Pediatr Int. 2012;54:447-54 pubmed publisher
    ..HLH has been divided into two subgroups: primary HLH and secondary HLH. Primary HLH includes PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, SH2D1A and XIAP gene mutations; and secondary HLH is associated with infections, malignancies and ..
  56. Machaczka M, Klimkowska M, Chiang S, Meeths M, Müller M, Gustafsson B, et al. Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations. Haematologica. 2013;98:760-4 pubmed publisher
    ..describe an Epstein-Barr virus-positive classical Hodgkin's lymphoma in a patient harboring biallelic mutations in STXBP2, a gene required for exocytosis of perforin-containing lytic granules and associated with familial hemophagocytic ..
  57. Yang L, Tang Y, Xiao F, Xiong J, Shen K, Liu Y, et al. Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism. PLoS ONE. 2016;11:e0159454 pubmed publisher
    ..Then SNP rs2303116 of STXBP2 genotyping was performed by Sanger sequencing method on samples from 24 patients with HLH and 182 normal controls...
  58. Cohen J, Niemela J, Stoddard J, Pittaluga S, Heslop H, Jaffe E, et al. Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1). J Clin Immunol. 2015;35:445-8 pubmed publisher
    ..a patient with prolonged severe CAEBV who underwent bone marrow transplant for his disease and subsequently was found to have compound heterozygous mutations in STXBP2 (MUNC18-2) as well as a heterozygous mutation in PRF1 (perforin 1).
  59. Kostova E, Beuger B, Veldthuis M, van der Werff ten Bosch J, Kühnle I, van den Akker E, et al. Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling. Exp Hematol. 2015;43:1072-1076.e2 pubmed publisher
    Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is a rare genetic disorder caused by mutations in STXBP2/Munc18-2. Munc18-2 plays a role in the degranulation machinery of natural killer cells and cytotoxic T lymphocytes...
  60. Cetica V, Santoro A, Gilmour K, Sieni E, Beutel K, Pende D, et al. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. J Med Genet. 2010;47:595-600 pubmed publisher
    ..A fourth gene, STXBP2, has been identified very recently as responsible for a defect in Munc18-2 in FHL-5...
  61. Qin T, Liang T, Zhu D, Kang Y, Xie L, Dolai S, et al. Munc18b Increases Insulin Granule Fusion, Restoring Deficient Insulin Secretion in Type-2 Diabetes Human and Goto-Kakizaki Rat Islets with Improvement in Glucose Homeostasis. EBioMedicine. 2017;16:262-274 pubmed publisher
    ..However, Munc18b overexpression in normal islets increased only newcomer SG fusion. Therefore, Munc18b could potentially be deployed in human T2D to rescue the deficient GSIS. ..
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    ..Mutations in HLH-related genes were found in 27.9% (24/86) patients who underwent genetic testing. PRF1, UNC13D, STXBP2 and LYST were the predominant genes involved. Sixteen patients (66...