Product Information
Protein NameBrefeldin A-inhibited guanine nucleotide-exchange protein 2
Human Gene Id10564
Human Swiss Prot NoQ9Y6D5
Mouse Gene Id99371
Mouse Swiss Prot NoA2A5R2
Rat Gene Id296380
Rat Swiss Prot NoQ7TSU1
SpecificityBIG2 Polyclonal Antibody detects endogenous levels of BIG2 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameARFGEF2; ARFGEP2; BIG2; Brefeldin A-inhibited guanine nucleotide-exchange protein 2; Brefeldin A-inhibited GEP 2; ADP-ribosylation factor guanine nucleotide-exchange factor 2
Molecular Weight202038DaObserved Band:210KD
Functiondisease:Defects in ARFGEF2 are the cause of autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097]; also called periventricular heterotopia with microcephaly autosomal recessive. 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.,enzyme regulation:Inhibited by brefeldin A.,function:Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 SEC7 domain.,tissue specificity:Expressed in placenta, lung, heart, brain, kidney and pancreas.,
Subcellular LocationCytoplasm. Membrane. Golgi apparatus. Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network . Endosome . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, dendrite . Cytoplasmic vesicle . Cell junction, synapse . Cytoplasm, cytoskeleton . Translocates from cytoplasm to membranes upon cAMP treatment. Localized in recycling endosomes.
ExpressionExpressed in placenta, lung, heart, brain, kidney and pancreas.