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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
Related
brefeldin A
General
guanine nucleotide exchange factor (GDP/GTP dissociation stimulator, guanine nucleotide-releasing factor/protein, GNEF, GNDS, GDS)
phosphoprotein
Properties
SIZE: entity length = 1785 aa
MW = 202 kD
MOTIF: Ser phosphorylation site {S218}
Ser phosphorylation site {S227}
Ser phosphorylation site {S240}
Thr phosphorylation site {T244}
Ser phosphorylation site {S276}
Ser phosphorylation site {S277}
Ser phosphorylation site {S614}
Thr phosphorylation site {T616}
Thr phosphorylation site {T621}
sec7 domain
SITE: 654-785
MOTIF: Ser phosphorylation site {S690}
Thr phosphorylation site {T691}
Ser phosphorylation site {S1511}
Ser phosphorylation site {S1513}
Ser phosphorylation site {S1514}
Ser phosphorylation site {S1525}
Ser phosphorylation site {S1528}
Ser phosphorylation site {S1782}
Database Correlations
OMIM correlations
MORBIDMAP 605371
UniProt Q9Y6D5
PFAM correlations
Entrez Gene 10564
Kegg hsa:10564
References
UniProt :accession Q9Y6D5