CLDN14
Claudin 14 | |||||||||||
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Identifiers | |||||||||||
Symbols | CLDN14 ; DFNB29 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 8115 | ||||||||||
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RNA expression pattern | |||||||||||
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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 14, also known as CLDN14, is a human gene.[1]
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. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene 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.[1]
References
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.
- 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.
- 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.
- Chen HI, Sudol M (1995). "The WW domain of Yes-associated protein binds a proline-rich ligand that differs from the consensus established for Src homology 3-binding modules". Proc. Natl. Acad. Sci. U.S.A. 92 (17): 7819–23. PMID 7644498.
- Hattori M, Fujiyama A, Taylor TD; et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
- Wilcox ER, Burton QL, Naz S; et al. (2001). "Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29". Cell. 104 (1): 165–72. PMID 11163249.
- 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.
- Uyguner O, Emiroglu M, Uzumcu A; et al. (2004). "Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss". Clin. Genet. 64 (1): 65–9. PMID 12791041.
- Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.
- 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.
- Van Itallie CM, Gambling TM, Carson JL, Anderson JM (2005). "Palmitoylation of claudins is required for efficient tight-junction localization". J. Cell. Sci. 118 (Pt 7): 1427–36. doi:10.1242/jcs.01735. PMID 15769849.
- Wattenhofer M, Reymond A, Falciola V; et al. (2006). "Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro". Hum. Mutat. 25 (6): 543–9. doi:10.1002/humu.20172. PMID 15880785.
- Hu YH, Warnatz HJ, Vanhecke D; et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi:10.1186/1471-2164-7-155. PMID 16780588.
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