Aliases for ARFGEF2 Gene
External Ids for ARFGEF2 Gene
Previous GeneCards Identifiers for ARFGEF2 Gene
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]
GeneCards Summary for ARFGEF2 Gene
ARFGEF2 (ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 (Brefeldin A-Inhibited)) is a Protein Coding gene. Diseases associated with ARFGEF2 include periventricular heterotopia with microcephaly and x-linked periventricular heterotopia. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Protein folding. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000268465.
UniProtKB/Swiss-Prot for ARFGEF2 Gene
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.