Gene: EXOC3

Alternate names for this Gene: SEC6|SEC6L1|Sec6p

Gene Summary: The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: exocyst complex component 3

Type of Gene: protein-coding

rs11749327 in EXOC3 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11749327 in EXOC3 gene and Hypospadias PMID 25108383 2014 Genome-wide association analyses identify variants in developmental genes associated with hypospadias.

rs72717436 in EXOC3 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.