CLCN5 (P51795) variants and mutations

CLCN5 (also known as P51795) is a human protein-coding gene encoding a h(+)/Cl(-) exchange transporter 5 protein. It supports endosomal acidification and receptor recycling in renal proximal-tubule cells, enabling efficient reabsorption of filtered proteins and solutes. Loss-of-function variants cause Dent disease type 1, with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, and kidney-stone risk. This analysis covers 976 CLCN5 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes Dent disease type 1, Dent disease, and hypophosphatemic rickets, X-linked recessive. Example CLCN5 variants include M1V, A2T, and A2V.

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 CLCN5 variants

Examples include M1V, A2T, A2V, M3T, M3V, W4*, W4R, W4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.