CLDN14

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

Claudin-14 is a protein that in humans is encoded by the CLDN14 gene.{{cite journal | vauthors = Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB | title = Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29 | journal = Cell | volume = 104 | issue = 1 | pages = 165–72 |date=Feb 2001 | pmid = 11163249 | doi =10.1016/S0092-8674(01)00200-8 | s2cid = 6346705 | doi-access = free }}{{cite web | title = Entrez Gene: CLDN14 claudin 14| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23562}} It belongs to a related family of proteins called claudins.

The protein encoded by CLDN14 is an integral membrane protein and a component of tight junctions, one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets. Tight junctions form continuous seals around cells and serve 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 protein strands in the outer surface of the cell membrane, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The CLDN14 protein also binds to WW domain of Yes-associated protein.

Defects in CLDN14 are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. Two transcript variants encoding the same protein have been found for this gene.

There are also suggestions that CLDN14 plays a role in tumour angiogenesis (blood vessel formation),{{cite journal| vauthors=Baker M, Reynolds LE, Robinson SD, Lees DM, Parsons M, Elia G| title=Stromal Claudin14-Heterozygosity, but Not Deletion, Increases Tumour Blood Leakage without Affecting Tumour Growth. | journal=PLOS ONE | year= 2013 | volume= 8 | issue= 5 | pages= e62516 | pmid=23675413 | doi=10.1371/journal.pone.0062516 | pmc=3652830 | bibcode=2013PLoSO...862516B |display-authors=etal| doi-access=free }} as deletion of a single copy of this gene leads to tight junction defects and leaky blood vessels in a mouse model.

Polymorphisms in CLDN14 are [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480968/ associated with kidney stone] risk. It is likely that additional roles for claudins in the pathogenesis of other types of kidney diseases have yet to be uncovered.

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{{UCSC gene info|CLDN14}}

{{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=Chen HI, Sudol M |title=The WW domain of Yes-associated protein binds a proline-rich ligand that differs from the consensus established for Src homology 3-binding modules |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 17 |pages= 7819–23 |year= 1995 |pmid= 7644498 |doi=10.1073/pnas.92.17.7819 | pmc=41237 |bibcode=1995PNAS...92.7819C |doi-access=free }}
{{cite journal | vauthors=Hattori M, Fujiyama A, Taylor TD |title=The DNA sequence of human chromosome 21 |journal=Nature |volume=405 |issue= 6784 |pages= 311–9 |year= 2000 |pmid= 10830953 |doi= 10.1038/35012518 |bibcode=2000Natur.405..311H |display-authors=etal|doi-access=free }}
{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
{{cite journal | vauthors=Uyguner O, Emiroglu M, Uzumcu A |title=Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss |journal=Clin. Genet. |volume=64 |issue= 1 |pages= 65–9 |year= 2004 |pmid= 12791041 |doi=10.1034/j.1399-0004.2003.00101.x |s2cid=29823828 |display-authors=etal}}
{{cite journal | vauthors=Clark HF, Gurney AL, Abaya E |title=The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 |display-authors=etal}}
{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |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 |display-authors=etal}}
{{cite journal | vauthors=Van Itallie CM, Gambling TM, Carson JL, Anderson JM |title=Palmitoylation of claudins is required for efficient tight-junction localization |journal=J. Cell Sci. |volume=118 |issue= Pt 7 |pages= 1427–36 |year= 2005 |pmid= 15769849 |doi= 10.1242/jcs.01735 |doi-access= free }}
{{cite journal | vauthors=Wattenhofer M, Reymond A, Falciola V |title=Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro |journal=Hum. Mutat. |volume=25 |issue= 6 |pages= 543–9 |year= 2006 |pmid= 15880785 |doi= 10.1002/humu.20172 |s2cid=27476200 |display-authors=etal|doi-access=free }}
{{cite journal | vauthors=Hu YH, Warnatz HJ, Vanhecke D |title=Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins |journal=BMC Genomics |volume=7|pages= 155 |year= 2006 |pmid= 16780588 |doi= 10.1186/1471-2164-7-155 | pmc=1526728 |display-authors=etal |doi-access=free }}
{{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 }}

[http://scienceblog.cancerresearchuk.org/2013/06/14/sticky-cells-blood-vessels-and-cancer-the-paradox-of-claudin-14/ Sticky cells, blood vessels and cancer – the paradox of Claudin-14] - Marianne Baker, Cancer Research UK Science Update blog, 14 June 2013

CLDN14

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Further reading