ARFGEF2 Antibody – Rabbit

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]

ARFGEF2: Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extend 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. Defects in ARFGEF2 are the cause of autosomal recessive periventricular nodular heterotopia type 2 (PVNH2); also known as periventricular heterotopia with microcephaly autosomal recessive. PVNH is 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.

Protein type: GEFs, ARF; GEFs

Chromosomal Location of Human Ortholog: 20q13.13

Cellular Component: Golgi membrane; asymmetric synapse; recycling endosome; membrane; perinuclear region of cytoplasm; cytoplasmic membrane-bound vesicle; dendritic spine; microtubule organizing center; cytoplasmic vesicle; trans-Golgi network; cell junction; cytosol

Molecular Function: protein binding; myosin binding; guanyl-nucleotide exchange factor activity; GABA receptor binding; ARF guanyl-nucleotide exchange factor activity

Biological Process: vesicle-mediated transport; receptor recycling; Golgi to plasma membrane transport; protein transport; exocytosis; endosome organization and biogenesis; endomembrane organization; regulation of ARF protein signal transduction; positive regulation of tumor necrosis factor production; positive regulation of GTPase activity

Disease: Periventricular Heterotopia With Microcephaly, Autosomal Recessive