CLDN16

Claudin 16
Identifiers
Symbols	CLDN16 ; PCLN1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4799
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Claudin 16, also known as CLDN16, is a human gene.

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.

Further reading

• Kniesel U, Wolburg H (2000). "Tight junctions of the blood-brain barrier". Cell. Mol. Neurobiol. 20 (1): 57–76. PMID 10690502.
• Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport". Traffic. 2 (2): 93–8. PMID 11247307.CS1 maint: Multiple names: authors list (link)
• Tsukita S, Furuse M, Itoh M (2001). "Multifunctional strands in tight junctions". Nat. Rev. Mol. Cell Biol. 2 (4): 285–93. doi:10.1038/35067088. PMID 11283726.CS1 maint: Multiple names: authors list (link)
• Tsukita S, Furuse M (2003). "Claudin-based barrier in simple and stratified cellular sheets". Curr. Opin. Cell Biol. 14 (5): 531–6. PMID 12231346.
• González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins". Prog. Biophys. Mol. Biol. 81 (1): 1–44. PMID 12475568.CS1 maint: Multiple names: authors list (link)
• Manz F, Schärer K, Janka P, Lombeck J (1978). "Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings". Eur. J. Pediatr. 128 (2): 67–79. PMID 668721.CS1 maint: Multiple names: authors list (link)
• Simon DB, Lu Y, Choate KA; et al. (1999). "Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption". Science. 285 (5424): 103–6. PMID 10390358.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Weber S, Hoffmann K, Jeck N; et al. (2000). "Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene". Eur. J. Hum. Genet. 8 (6): 414–22. doi:10.1038/sj.ejhg.5200475. PMID 10878661.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Weber S, Schneider L, Peters M; et al. (2001). "Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis". J. Am. Soc. Nephrol. 12 (9): 1872–81. PMID 11518780.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Müller D, Kausalya PJ, Claverie-Martin F; et al. (2004). "A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting". Am. J. Hum. Genet. 73 (6): 1293–301. PMID 14628289.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hou J, Paul DL, Goodenough DA (2005). "Paracellin-1 and the modulation of ion selectivity of tight junctions". J. Cell. Sci. 118 (Pt 21): 5109–18. doi:10.1242/jcs.02631. PMID 16234325.CS1 maint: Multiple names: authors list (link)
• Kausalya PJ, Amasheh S, Günzel D; et al. (2006). "Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16". J. Clin. Invest. 116 (4): 878–91. doi:10.1172/JCI26323. PMID 16528408.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Türkmen M, Kasap B, Soylu A; et al. (2007). "Paracellin-1 gene mutation with multiple congenital abnormalities". Pediatr. Nephrol. 21 (11): 1776–8. doi:10.1007/s00467-006-0247-7. PMID 16924549.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)