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Gene : CLDN16 Homo sapiens

Name  ? claudin 16 Cytological Location  3q28
Brief Description  claudin 16
Description  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]
  • synonyms:
  • AF152101,
  • hypomagnesemia 3, with hypercalciuria and nephrocalcinosis,
  • HOMG3,
  • PCLN1,
  • OTTHUMG00000156215,
  • HOMG3,
  • PCLN1,
  • HGNC:2037,
  • NM_006580,
  • paracellin-1,
  • CLDN16,
  • uc003fsi.3
  • identifiers:
  • 10686,
  • ENSG00000113946,
  • CLDN16

Genome feature

Region: gene ? Length: 121778  
Location: 3:190290361-190412138 Cyto location: 3q28


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results