COG2

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants

Full Name

component of oligomeric golgi complex 2

Function

Required for normal Golgi morphology and function.

Biological Process

Endoplasmic reticulum to Golgi vesicle-mediated transport Source: Reactome
Golgi organization Source: UniProtKB
Intra-Golgi vesicle-mediated transport Source: UniProtKB
Protein transport Source: UniProtKB-KW

Cellular Location

Golgi apparatus membrane

Involvement in disease

Congenital disorder of glycosylation 2Q (CDG2Q):
A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance.