rs138470165
This variant is located in the EXOC2 gene.
▶ClinVar annotation
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
View on ClinVar →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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