PH domain containing endocytic trafficking adaptor 2 (PHETA2)

PHETA2 (PH domain containing endocytic trafficking adaptor 2) is a ubiquitously expressed protein that serves as an adaptor in endocytic trafficking, facilitating receptor recycling and lysosomal hydrolase transport. It contains a pleckstrin homology (PH) domain enabling its recruitment to specific cellular compartments. PHETA2 interacts with OCRL, whose mutations cause Lowe syndrome, suggesting a critical role in endosome and lysosome biology. Functional studies—predominantly in zebrafish—reveal essential roles in renal tissue endocytosis, ciliogenesis, and craniofacial development. Deficiency of PHETA2 leads to dysregulation of proteases such as cathepsin K, contributing to abnormal cartilage development and extracellular matrix alteration. While PHETA2 is not a therapeutic drug target or receptor, its dysfunction is implicated in disease pathways related to lysosomal storage disorders and developmental abnormalities

Other names

Sesquipedalian-2FAM109BSes2IPIP27BDKFZp686J07229SES227 kDa inositol polyphosphate phosphatase interacting protein Binositol polyphosphate phosphatase-interacting protein Bfamily with sequence similarity 109 member BLOC687232C920005C14Rik

Drugs such as cathepsin K inhibitors act indirectly by correcting effects of protease dysregulation resulting from PHETA2 deficiency; there are no drugs that directly target PHETA2