RUN And FYVE Domain Containing Protein 2 (RUFY2)

The RUFY2 gene maps to a region of chromosome 10q that has been linked to both late-onset Alzheimer disease (AD6) and elevated plasma levels of pathogenic beta-amyloid. The deduced 606-amino acid protein has an N-terminal RUN domain, 2 central coiled-coil domains, and a C-terminal FYVE domain containing 2 zinc-binding sites and an SH3 domain recognition motif (PxxPxP). Northern blot analysis detected RUFY2 expression in brain, lung, and testis only. RT-PCR ELISA detected variable expression in all adult and fetal tissues examined. Highest expression was in ovary, whole adult brain, and testis, and lowest expression was in pancreas, spleen, fetal liver, and fetal whole brain. RUFY2 was expressed in all specific adult brain regions examined, with highest expression in amygdala.