ARFGEF2

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]

ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2

Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways.

Endomembrane system organization Source: UniProtKB
Endosome organization Source: UniProtKB
Exocytosis Source: ProtInc
Golgi to plasma membrane transport Source: UniProtKB
Intracellular signal transduction Source: MGI
Positive regulation of tumor necrosis factor production Source: UniProtKB
Protein transport Source: UniProtKB-KW
Receptor recycling Source: UniProtKB
Regulation of ARF protein signal transduction Source: InterPro

Cytoplasm; Endosome; Golgi apparatus; Trans-Golgi network; Centrosome; Cytoskeleton; Membrane; Perinuclear region; Dendrite; Cytoplasmic vesicle; Synapse. Translocates from cytoplasm to membranes upon cAMP treatment. Localized in recycling endosomes.

Periventricular nodular heterotopia 2 (PVNH2): A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.

In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.