brefeldin A-inhibited guanine nucleotide-exchange protein 2; brefeldin A-inhibited GEP 2 (ARFGEF2, ARFGEP2, BIG2)

Function

• promotes guanine-nucleotide exchange on ARF1, ARF5 & ARF6
• promotes activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP
• inhibited by brefeldin A
• phosphorylated upon DNA damage, probably by ATM or ATR

Structure

contains 1 SEC7 domain

Expression

• expressed in placenta, lung, heart, brain, kidney & pancreas

Pathology

• defects in ARFGEF2 are the cause of autosomal recessive periventricular nodular heterotopia type 2

More general terms

• guanine nucleotide exchange factor
• phosphoprotein

Additional terms

• brefeldin A

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10564
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:10564
• OMIM: https://mirror.omim.org/entry/605371
• OMIM: https://mirror.omim.org/entry/608097
• UniProt: http://www.uniprot.org/uniprot/Q9Y6D5.html