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CLDN16

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Claudin-16 is a protein that in humans is encoded by the CLDN16 gene.{{cite journal | vauthors = Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP | title = Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption | journal = Science | volume = 285 | issue = 5424 | pages = 103–6 |date=Jul 1999 | pmid = 10390358 | doi =10.1126/science.285.5424.103 }}{{cite web | title = Entrez Gene: CLDN16 claudin 16| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10686}} It belongs to the group of claudins.

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 composed 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 kidney failure.

References

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External links

  • {{UCSC gene info|CLDN16}}

Further reading

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  • {{cite journal | vauthors=Kniesel U, Wolburg H |title=Tight junctions of the blood–brain barrier |journal=Cell. Mol. Neurobiol. |volume=20 |issue= 1 |pages= 57–76 |year= 2000 |pmid= 10690502 |doi=10.1023/A:1006995910836 |s2cid=26473781 |pmc=11537529 }}
  • {{cite journal | vauthors=Heiskala M, Peterson PA, Yang Y |title=The roles of claudin superfamily proteins in paracellular transport |journal=Traffic |volume=2 |issue= 2 |pages= 93–8 |year= 2001 |pmid= 11247307 |doi=10.1034/j.1600-0854.2001.020203.x |s2cid=12132159 |doi-access=free }}
  • {{cite journal | vauthors=Tsukita S, Furuse M, Itoh M |title=Multifunctional strands in tight junctions |journal=Nat. Rev. Mol. Cell Biol. |volume=2 |issue= 4 |pages= 285–93 |year= 2001 |pmid= 11283726 |doi= 10.1038/35067088 |s2cid=36524601 }}
  • {{cite journal | vauthors=Tsukita S, Furuse M |title=Claudin-based barrier in simple and stratified cellular sheets |journal=Curr. Opin. Cell Biol. |volume=14 |issue= 5 |pages= 531–6 |year= 2003 |pmid= 12231346 |doi=10.1016/S0955-0674(02)00362-9 }}
  • {{cite journal | vauthors=González-Mariscal L, Betanzos A, Nava P, Jaramillo BE |title=Tight junction proteins |journal=Prog. Biophys. Mol. Biol. |volume=81 |issue= 1 |pages= 1–44 |year= 2003 |pmid= 12475568 |doi=10.1016/S0079-6107(02)00037-8 |doi-access=free }}
  • {{cite journal | vauthors=Manz F, Schärer K, Janka P, Lombeck J |title=Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings |journal=Eur. J. Pediatr. |volume=128 |issue= 2 |pages= 67–79 |year= 1978 |pmid= 668721 |doi=10.1007/BF00496992 |s2cid=11806270 }}
  • {{cite journal | author=Weber S |title=Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene |journal=Eur. J. Hum. Genet. |volume=8 |issue= 6 |pages= 414–22 |year= 2000 |pmid= 10878661 |doi= 10.1038/sj.ejhg.5200475 |name-list-style=vanc| author2=Hoffmann K | author3=Jeck N | display-authors=3 | last4=Saar | first4=Kathrin | last5=Boeswald | first5=Martin | last6=Kuwertz-Broeking | first6=Eberhard | last7=Meij | first7=Ivan IC | last8=Knoers | first8=Nine VAM | last9=Cochat | first9=Pierre | doi-access=free }}
  • {{cite journal | author=Weber S |title=Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis |journal=J. Am. Soc. Nephrol. |volume=12 |issue= 9 |pages= 1872–81 |year= 2001 |pmid= 11518780 |name-list-style=vanc| author2=Schneider L | author3=Peters M | display-authors=3 | last4=Misselwitz | first4=J | last5=Rönnefarth | first5=G | last6=Böswald | first6=M | last7=Bonzel | first7=KE | last8=Seeman | first8=T | last9=Suláková | first9=T |doi=10.1681/ASN.V1291872 | doi-access=free }}
  • {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal | author=Müller D |title=A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting |journal=Am. J. Hum. Genet. |volume=73 |issue= 6 |pages= 1293–301 |year= 2004 |pmid= 14628289 |doi=10.1086/380418 | pmc=1180395 |name-list-style=vanc| author2=Kausalya PJ | author3=Claverie-Martin F | display-authors=3 | last4=Meij | first4=Iwan C. | last5=Eggert | first5=Paul | last6=Garcia-Nieto | first6=Victor | last7=Hunziker | first7=Walter }}
  • {{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-style=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
  • {{cite journal | vauthors=Hou J, Paul DL, Goodenough DA |title=Paracellin-1 and the modulation of ion selectivity of tight junctions |journal=J. Cell Sci. |volume=118 |issue= Pt 21 |pages= 5109–18 |year= 2005 |pmid= 16234325 |doi= 10.1242/jcs.02631 |doi-access= free }}
  • {{cite journal | author=Kausalya PJ |title=Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16 |journal=J. Clin. Invest. |volume=116 |issue= 4 |pages= 878–91 |year= 2006 |pmid= 16528408 |doi= 10.1172/JCI26323 | pmc=1395478 |name-list-style=vanc| author2=Amasheh S | author3=Günzel D | display-authors=3 | last4=Wurps | first4=H | last5=Müller | first5=D | last6=Fromm | first6=M | last7=Hunziker | first7=W }}
  • {{cite journal | author=Türkmen M |title=Paracellin-1 gene mutation with multiple congenital abnormalities |journal=Pediatr. Nephrol. |volume=21 |issue= 11 |pages= 1776–8 |year= 2007 |pmid= 16924549 |doi= 10.1007/s00467-006-0247-7 |name-list-style=vanc| author2=Kasap B | author3=Soylu A | display-authors=3 | last4=Böber | first4=Ece | last5=Konrad | first5=Martin | last6=Kavukçu | first6=Salih |s2cid=9410376 |url=https://boris.unibe.ch/20922/ }}
  • {{cite journal | vauthors = Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, Beavis RC, Lane L, Duek P, McQuade L, Kelleher NL, Baker MS | title = A systems proteomics view of the endogenous human claudin protein family | journal = J Proteome Res | date= 2015 | volume = 15 | issue = 2 | pages = 339–359 | pmid = 26680015 | doi = 10.1021/acs.jproteome.5b00769 | url = https://archive-ouverte.unige.ch/unige:79118/ATTACHMENT01 | pmc = 4777318 }}

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Category:Genes mutated in mice