CLDN14

CLDN14
Identifiers
Aliases	CLDN14 , DFNB29, claudin 14
External IDs	OMIM: 605608; MGI: 1860425; HomoloGene: 8115; GeneCards: CLDN14; OMA:CLDN14 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.13 Start 36,460,621 bp [1] End 36,576,569 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 C4 Start 93,715,919 bp [2] End 93,809,696 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver testicle buccal mucosa cell human kidney kidney tubule cartilage tissue body of pancreas renal medulla gallbladder lower lobe of lung Top expressed in lumbar subsegment of spinal cord hepatobiliary system liver left lobe of liver embryo hair follicle parasympathetic nervous system thyroid gland secondary oocyte sciatic nerve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural molecule activity identical protein binding Cellular component integral component of membrane cell junction plasma membrane endoplasmic reticulum membrane bicellular tight junction Biological process calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules protein-containing complex assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 16: 93.72 – 93.81 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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 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. ^[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.

Polymorphisms in CLDN14 are 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.

See also

• Nonsyndromic deafness (DFNB29)

References

1. GRCh38: Ensembl release 89: ENSG00000159261 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047109 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. S2CID   6346705.
6. "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. Bibcode:2013PLoSO...862516B. doi: 10.1371/journal.pone.0062516 . PMC   3652830 . PMID   23675413.

External links

• Human CLDN14 genome location and CLDN14 gene details page in the UCSC Genome Browser .

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. PMC   11537529 . PMID   10690502. S2CID   26473781.
• 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. S2CID   12132159.
• 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. S2CID   36524601.
• 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. Bibcode:1995PNAS...92.7819C. 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. Bibcode:2000Natur.405..311H. 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. Bibcode:2002PNAS...9916899M. 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. S2CID   29823828.
• 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. S2CID   27476200.
• 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. 15 (2): 339–359. doi:10.1021/acs.jproteome.5b00769. PMC   4777318 . PMID   26680015.

• Sticky cells, blood vessels and cancer – the paradox of Claudin-14 - Marianne Baker, Cancer Research UK Science Update blog, 14 June 2013