Gene: CLDN16

Alternate names for this Gene: HOMG3|PCLN1

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q28

Description of this Gene: claudin 16

Type of Gene: protein-coding

rs104893726 in CLDN16 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs104893726 in CLDN16 gene and Nephrolithiasis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs104893721 in CLDN16 gene and Primary hypomagnesemia (disorder) PMID 10878661 2000 Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.

PMID 10390358 1999 Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.

PMID 11518780 2001 Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

PMID 25477417 2015 Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.

PMID 20607983 2010 Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: the first four patients in Serbia.

PMID 16234325 2005 Paracellin-1 and the modulation of ion selectivity of tight junctions.

PMID 15856319 2005 Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.