CLDN14

CLDN14
Identifiers
AliasesCLDN14, DFNB29, claudin 14
External IDsMGI: 1860425 HomoloGene: 8115 GeneCards: CLDN14
Gene location (Human)
Chr.Chromosome 21 (human)[1]
Band21q22.13Start36,460,621 bp[1]
End36,576,569 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

23562

56173

Ensembl

ENSG00000159261

ENSMUSG00000047109

UniProt

O95500

Q9Z0S3

RefSeq (mRNA)

NM_001146077
NM_001146078
NM_001146079
NM_012130
NM_144492

NM_001165925
NM_001165926
NM_019500

RefSeq (protein)

NP_001139549
NP_001139550
NP_001139551
NP_036262
NP_652763

NP_001159397
NP_001159398
NP_062373

Location (UCSC)Chr 21: 36.46 – 36.58 MbChr 16: 93.92 – 94.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Claudin-14 is a protein that in humans is encoded by the CLDN14 gene.[5][6] 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 particular part of a protein called Yes-associated protein, known as its WW domain.

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.[6]

There are also suggestions that CLDN14 plays a role in tumour angiogenesis (blood vessel formation),[7] as deletion of a single copy of this gene leads to tight junction defects and leaky blood vessels in a mouse model.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000159261 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047109 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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 (Feb 2001). "Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29". Cell. 104 (1): 165–72. doi:10.1016/S0092-8674(01)00200-8. PMID 11163249.
  6. 1 2 "Entrez Gene: CLDN14 claudin 14".
  7. ↑ Baker M, Reynolds LE, Robinson SD, Lees DM, Parsons M, Elia G, et al. (2013). "Stromal Claudin14-Heterozygosity, but Not Deletion, Increases Tumour Blood Leakage without Affecting Tumour Growth". PLoS ONE. 8 (5): e62516. doi:10.1371/journal.pone.0062516. PMC 3652830. PMID 23675413.

Further reading

  • Kniesel U, Wolburg H (2000). "Tight junctions of the blood–brain barrier". Cell. Mol. Neurobiol. 20 (1): 57–76. doi:10.1023/A:1006995910836. PMID 10690502.
  • Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport". Traffic. 2 (2): 93–8. doi:10.1034/j.1600-0854.2001.020203.x. 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. doi:10.1016/S0955-0674(02)00362-9. PMID 12231346.
  • González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins". Prog. Biophys. Mol. Biol. 81 (1): 1–44. doi:10.1016/S0079-6107(02)00037-8. 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. doi:10.1073/pnas.92.17.7819. PMC 41237. 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.
  • 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. PMC 139241. 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. doi:10.1034/j.1399-0004.2003.00101.x. 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. PMC 403697. 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. PMC 528928. 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. PMC 1526728. PMID 16780588.
  • Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, Beavis RC, Lane L, Duek P, McQuade L, Kelleher NL, Baker MS (2015). "A systems proteomics view of the endogenous human claudin protein family". J Proteome Res. doi:10.1021/acs.jproteome.5b00769. PMID 26680015.


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