Gene: STXBP5

Alternate names for this Gene: LGL3|LLGL3|Nbla04300

Gene Summary: Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 6

Location in Chromosome : 6q24.3

Description of this Gene: syntaxin binding protein 5

Type of Gene: protein-coding

rs17076671 in STXBP5 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs556493 in STXBP5 gene and Bronchopulmonary Dysplasia PMID 23897914 2013 A genome-wide association study (GWAS) for bronchopulmonary dysplasia.

rs9390459 in STXBP5 gene and Factor VII measurement PMID 20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.

rs9390460 in STXBP5 gene and Factor VIII measurement PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

rs17076671 in STXBP5 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs9373523 in STXBP5 gene and Tuberculosis PMID 20694014 2010 Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.

rs620715 in STXBP5 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs9390461 in STXBP5 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1221638 in STXBP5 gene and von Willebrand's factor (lab test) PMID 26486471 2016 Genome-wide association studies identify genetic loci for low von Willebrand factor levels.

PMID 20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.

PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.