CLDN16 encodes claudin 16 (235 aa). Forms paracellular channels: coassembles with CLDN19 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability. Highest expression in Kidney Medulla (13.3 TPM) and Kidney Cortex (4.2 TPM).

Renal hypomagnesemia 3 is caused by mutations in the CLDN16 gene on chromosome 3.

CLDN16 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for CLDN16 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for renal hypomagnesemia 3 has been reported in the published literature.

Phenotype severity distribution: 15 always present features, 9 very common features, 15 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for renal hypomagnesemia 3.

64 publications have been identified in PubMed for renal hypomagnesemia 3. Research spans Case Report / Case Series (47%), Epidemiology / Natural History (16%), and Review / Meta-Analysis (13%).

Recent Publications

• Sheng QQ (2026). [PMID: 41845298](https://pubmed.ncbi.nlm.nih.gov/41845298/). *BMC Nephrol*. [Case Report / Case Series]

• Wang C (2026). [PMID: 41896308](https://pubmed.ncbi.nlm.nih.gov/41896308/). *Sci Rep*. [Case Report / Case Series]

• Li Y (2026). [PMID: 41958666](https://pubmed.ncbi.nlm.nih.gov/41958666/). *Front Immunol*. [Case Report / Case Series]

• Zhao PH (2026). [PMID: 42164366](https://pubmed.ncbi.nlm.nih.gov/42164366/). *Transl Androl Urol*. [Epidemiology / Natural History]

• Nakata K (2026). [PMID: 41452545](https://pubmed.ncbi.nlm.nih.gov/41452545/). *Clinical and experimental nephrology*. [Clinical Trial Publication]

• Yang Y (2026). [PMID: 41924323](https://pubmed.ncbi.nlm.nih.gov/41924323/). *Clin Nephrol Case Stud*. [Case Report / Case Series]

• Bragança R (2026). [PMID: 41700263](https://pubmed.ncbi.nlm.nih.gov/41700263/). *Cureus*. [Case Report / Case Series]

• Kaba A (2026). [PMID: 42095997](https://pubmed.ncbi.nlm.nih.gov/42095997/). *CEN Case Rep*. [Case Report / Case Series]

• Sassi A (2026). [PMID: 41934123](https://pubmed.ncbi.nlm.nih.gov/41934123/). *Curr Opin Nephrol Hypertens*. [Review / Meta-Analysis]

• Rogalidou M (2026). [PMID: 41736231](https://pubmed.ncbi.nlm.nih.gov/41736231/). *Clinical and experimental pediatrics*. [Gene Therapy / Novel Therapeutics]