rs2073006

This variant is located in the EXOC2 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

glaucoma

Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)
Allele T
OR 0.17
p 5.0e-12
N 68,390
Meta-analysisMajor Consortium StudyLarge GWAS
European
MacGregor S et al. “Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.” Nature Genetics 50(8):1067-1071 (2018)
Allele T
OR 1.14
p 1.0e-9
N 137,086
Large GWAS
European

open-angle glaucoma

Choquet H et al. “A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.” Nature Communications 9(1):2278 (2018)
Allele T
OR 1.16
p 3.0e-10
N 176,890
Large GWAS
multi-ancestry

Antiglaucoma preparations and miotics use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.18
p 8.0e-10
N 100,868
Major Consortium StudyLarge GWAS
European

About EXOC2

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. [provided by RefSeq, Jul 2012]

View all EXOC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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