ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2 (BIG2))

ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2), also known as BIG2, is a large enzyme that activates ARF small GTPases by catalyzing the exchange of GDP for GTP, a process essential for vesicle formation and protein trafficking within cells, especially between the Golgi apparatus, endosomes, and the plasma membrane. The protein contains a Sec7 domain responsible for its exchange activity and sensitivity to the inhibitor brefeldin A. ARFGEF2 is critically involved in neuronal development, facilitating vesicular trafficking required for neuronal migration and formation of adherens junctions at the ventricular surface of the developing brain. Mutations disrupt these processes, leading to cortical malformations such as periventricular nodular heterotopia, often accompanied by microcephaly and sometimes movement disorders. ARFGEF2 is not a major direct therapeutic target, but it is studied for its pivotal role in cell biology and disease[1][2][3][4][5].

Other names

Brefeldin A-inhibited guanine nucleotide-exchange protein 2BIG2ARFGEP2ARF guanine nucleotide exchange factor 2Brefeldin A-inhibited GEP 2PVNH2dJ1164I10.1

Inhibition of guanine nucleotide exchange activity (via brefeldin A; prevents ARF activation on membranes)