Gene: STX1B

Alternate names for this Gene: GEFSP9|STX1B1|STX1B2

Gene Summary: The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: syntaxin 1B

Type of Gene: protein-coding

rs12716979 in STX1B gene and Body mass index PMID 31453325 2019 Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8060857 in STX1B gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs55908605 in STX1B gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8062719 in STX1B gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs724159974 in STX1B gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 PMID 25362483 2014 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

rs4889606 in STX1B gene and Hip circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

rs1555494259 in STX1B gene and Movement Disorders PMID 27781031 2016 Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

PMID 8105537 1993 Characterization of a presynaptic glutamate receptor.

PMID 25362483 2014 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

rs1555494259 in STX1B gene and Muscle hypotonia PMID 25362483 2014 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

PMID 27781031 2016 Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

PMID 8105537 1993 Characterization of a presynaptic glutamate receptor.

rs12445568 in STX1B gene and Psoriasis PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

rs12445568 in STX1B gene and Psoriasis vulgaris PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.

rs2199036 in STX1B gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2199036 in STX1B 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.