COPB2

COPB2 (Coatomer Protein Complex Subunit Beta 2) is a Protein Coding gene. Diseases associated with COPB2 include Microcephaly 19, Primary, Autosomal Recessive. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include structural molecule activity.

Full Name

Coatomer Protein Complex Subunit Beta 2

Function

The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).

This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (By similarity).

Biological Process

Endoplasmic reticulum to Golgi vesicle-mediated transport Source: GO_Central
Intracellular protein transport Source: GO_Central
Intra-Golgi vesicle-mediated transport Source: UniProtKB
Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum Source: GO_Central
Toxin transport Source: Ensembl

Cellular Location

Cytosol; Golgi apparatus membrane; COPI-coated vesicle membrane. The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Shows only a slight preference for the cis-Golgi apparatus, compared with the trans-Golgi.

Involvement in disease

Microcephaly 19, primary, autosomal recessive (MCPH19):
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination.