PKD2 (Polycystin-2) variants and mutations

PKD2 (also known as Polycystin-2) is a human protein-coding gene encoding a polycystin-2 protein. It provides calcium-permeable polycystin channel activity and forms signaling complexes with polycystin-1 in renal epithelial cells. Loss-of-function variants cause autosomal dominant polycystic kidney disease, generally with a milder average course than PKD1-associated disease. This analysis covers 1,679 PKD2 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes polycystic kidney disease 2, autosomal dominant polycystic kidney disease, and cystic kidney disease. Example PKD2 variants include M1K, V2M, and V2L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable PKD2 variants

Examples include M1K, V2M, V2L, V2A, V2E, V2V, N3D, N3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.