Gene: BSN

Alternate names for this Gene: ZNF231

Gene Summary: Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: bassoon presynaptic cytomatrix protein

Type of Gene: protein-coding

rs35999162 in BSN gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs116046827 in BSN gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs369849874 in BSN gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs11130206 in BSN gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs116046827 in BSN gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs116046827 in BSN gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 17804789 2007 Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

PMID 18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

PMID 17554300 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

PMID 17554261 2007 Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

rs115548824 in BSN gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9836291 in BSN gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs13096480 in BSN gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs34762726 in BSN gene and Primary sclerosing cholangitis PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

rs116046827 in BSN gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs56116382 in BSN gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs116046827 in BSN gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 19915572 2009 Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

rs11917431 in BSN gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.