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STXBP2 gene

Known as: Hunc18b, MUNC18-2, syntaxin binding protein 2 
This gene is involved in intracellular vesicle trafficking.
National Institutes of Health

Related topics

Related topics

6 relations
ExocytosisHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5Homo sapiensLigand Binding

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity
The presence of mutations in PRF1, UNC13D, STX11 and STXBP2 genes in homozygosis or compound heterozygosis results in immune… 
2019
2019
Faculty Opinions recommendation of MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
2018
2018
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding
Abstract Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion… 
2018
2018
Langerhans cell histiocytosis and primary hemophagocytic lymphohistiocytosis with persistent clonal T-large granular lymphocyte proliferation
2018
2018
Author response for "Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1 , UNC13D , STX11 , STXBP2 , SH2D1A , and XIAP "
2017
2017
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma
Certain patients with lymphoma may harbor mutations in perforin 1 (PRF1), unc-13 homolog D (UNC13D), syntaxin 11 (STX11), STXBP2… 
2016
2016
Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism
Study Purpose Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease of severe hyperinflammation caused by… 
2016
2016
噬血细胞性淋巴组织细胞增生症患儿及其家系穿孔素和颗粒酶B的表达
目的 了解穿孔素1(PRF1）基因突变型的噬血细胞性淋巴组织细胞增生症（HLH）患儿穿孔素和颗粒酶B的表达水平，初步探讨PRF1基因突变与患儿免疫细胞功能和临床表现的关系。 方法 将8例（例1~8）治疗后HLH患儿、5例（例1~5… 
2012
2012
Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.
2011
2011
[The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis].
OBJECTIVE To study the type and corresponding clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH… 
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