DISEASES

Disease-gene associations mined from literature

Literature associating ARFGEF2 and West syndrome

ARFGEF2 [ENSP00000360985]

ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited); 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; A-kinase anchoring proteins

Synonyms:  ARFGEF2,  ARFGEF2p,  hARFGEF2,  Q59FR3,  Q9Y6D5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM