Gene: EXOC6

Alternate names for this Gene: EXOC6A|SEC15|SEC15L|SEC15L1|SEC15L3|Sec15p

Gene Summary: The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.33

Description of this Gene: exocyst complex component 6

Type of Gene: protein-coding

rs835278 in EXOC6 gene and Bilirubin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs34773007 in EXOC6 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 26818947 2016 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

rs856534 in EXOC6 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs7895716 in EXOC6 gene and High density lipoprotein measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12413181 in EXOC6 gene and Tonometry PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.