EXOC2 Chromosome 6
Exocyst complex component 2
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What This Gene Does
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]
Gene Info
Gene Group
"Exocyst complex|IPT domain containing"
Locus Type
gene with protein product
Location
6p25.3
Ensembl
ENSG00000112685
Associated Conditions (1)
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2127584790 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia |