CLDN16 Chromosome 3
Claudin 16
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What This Gene Does
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Claudins
Locus Type
gene with protein product
Location
3q28
Ensembl
ENSG00000113946
Associated Conditions (7)
Primary hypomagnesemia
Inborn genetic diseases
Clear cell carcinoma of kidney
Renal hypomagnesemia 5 with ocular involvement
HYPERCALCIURIA
CHILDHOOD
SELF-LIMITING
Key Variants
RS104893724
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Primary hypomagnesemia, Primary hypomagnesemia
Health Risk
RS137882210
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Primary hypomagnesemia
Health Risk
RS144731880
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145118503
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Inborn genetic diseases, Primary hypomagnesemia
Health Risk
RS145475632
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149965853
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Primary hypomagnesemia
Health Risk
RS199651054
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Primary hypomagnesemia
Health Risk
RS201367228
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Inborn genetic diseases, Clear cell carcinoma of kidney
Health Risk
RS369250510
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Primary hypomagnesemia
Health Risk
RS528344809
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Primary hypomagnesemia
Health Risk
RS532245223
Conflicting classifications of pathogenicity
Primary hypomagnesemia, Inborn genetic diseases, Primary hypomagnesemia
Health Risk
RS752230428
Conflicting classifications of pathogenicity
Inborn genetic diseases, Primary hypomagnesemia, Inborn genetic diseases
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893724 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Primary hypomagnesemia, Primary hypomagnesemia |
| RS137882210 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Primary hypomagnesemia |
| RS144731880 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145118503 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Inborn genetic diseases, Primary hypomagnesemia |
| RS145475632 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149965853 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Primary hypomagnesemia |
| RS199651054 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Primary hypomagnesemia |
| RS201367228 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Inborn genetic diseases, Clear cell carcinoma of kidney |
| RS369250510 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Primary hypomagnesemia |
| RS528344809 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Primary hypomagnesemia |
| RS532245223 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Inborn genetic diseases, Primary hypomagnesemia |
| RS752230428 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Primary hypomagnesemia, Inborn genetic diseases |
| RS757064470 | Health Risk | Conflicting classifications of pathogenicity | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893728 | Health Risk | Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia, Primary hypomagnesemia |
| RS1270704258 | Health Risk | Likely pathogenic | — |
| RS1293775732 | Health Risk | Likely pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS1577430815 | Health Risk | Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS1577432872 | Health Risk | Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS1718987504 | Health Risk | Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS2108658339 | Health Risk | Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS2108670592 | Health Risk | Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS2473800393 | Health Risk | Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS765256758 | Health Risk | Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS1007522348 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893720 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893721 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893722 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893725 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893727 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893729 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893730 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893731 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893732 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS121908542 | Health Risk | Pathogenic | HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING |
| RS121908543 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS1253995767 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS138308105 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS1553809654 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS1577432849 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS387906880 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS968906940 | Health Risk | Pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893723 | Health Risk | Pathogenic/Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS751959432 | Health Risk | Pathogenic/Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS753901053 | Health Risk | Pathogenic/Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |
| RS772241737 | Health Risk | Pathogenic/Likely pathogenic | Primary hypomagnesemia, Primary hypomagnesemia |