CLDN19
Chr 1ARclaudin 19
Also known as: HOMG5
CLDN19 encodes claudin-19, a tight junction protein that forms paracellular channels with claudin-16 to facilitate magnesium and calcium reabsorption in the kidney and maintains barrier function in retinal pigment epithelium and Schwann cells. Mutations cause hypomagnesemia 5, renal, with ocular involvement (HOMGO), a progressive disease characterized by renal magnesium wasting, hypercalciuria, nephrocalcinosis, and severe ocular abnormalities including chorioretinal scars, macular colobomata, myopia, and nystagmus. This condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CLDN19 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools