Gene: EXOC2

Alternate names for this Gene: SEC5|SEC5L1|Sec5p

Gene Summary: The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the 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. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p25.3

Description of this Gene: exocyst complex component 2

Type of Gene: protein-coding

rs11242982 in EXOC2 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs9504361 in EXOC2 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4960175 in EXOC2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6938671 in EXOC2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs113985657 in EXOC2 gene and Glaucoma PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs2073006 in EXOC2 gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs13192740 in EXOC2 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

PMID 18483556 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

rs2476847 in EXOC2 gene and Psoriasis PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

rs71550013 in EXOC2 gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

rs113985657 in EXOC2 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.