EXOC2
Domain
Interacts with RALA through the TIG domain.
Function
Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
Involvement in disease
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
NEDFACH
An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and abnormalities of the cerebellum observed on brain imaging. Disease severity is variable. Some affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech. Others may achieve more significant developmental milestones. Additional variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SEC5 family.
Tissue Specificity
Widely expressed with highest levels in brain and placenta.
Cellular localization
- Midbody
- Midbody ring
- Recruitment to the midbody does not require RALA, nor RALB (PubMed:18756269). Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214).
Alternative names
SEC5, SEC5L1, EXOC2, Exocyst complex component 2, Exocyst complex component Sec5