PKD2L1 Gene - Polycystin 2 Like 1: Function, Expression, and Disease Associations

PKD2L1 (polycystin 2 like 1) encodes a member of the polycystin family, a subgroup of the transient receptor potential (TRP) cation channel superfamily. The protein forms a non-selective cation channel that is permeable to calcium and other monovalent cations. It is involved in sensory transduction, including sour taste perception and pH sensing. Mutations in this gene have been associated with autosomal dominant polycystic kidney disease-like phenotypes and other ciliopathies.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Polycystin signaling pathway (Reactome: R-HSA-5620912)

• TRP channel regulation (KEGG: hsa04750)

• Ciliary signaling (GO:0060271)

The PKD2L1 protein (UniProt Q9P0L9) is a 764-amino acid transmembrane protein with six transmembrane domains and a C-terminal coiled-coil domain. It functions as a non-selective cation channel permeable to Ca2+, Na+, and K+. The channel is activated by acidic pH and mechanical stimuli. It localizes to the plasma membrane, cilia, and sperm flagellum. PKD2L1 interacts with PKD1L3 and other polycystins to form functional channel complexes involved in sensory transduction.