CLDN14

Protein-coding gene in the species Homo sapiens
CLDN14
Identifiers
AliasesCLDN14, DFNB29, claudin 14
External IDsOMIM: 605608; MGI: 1860425; HomoloGene: 8115; GeneCards: CLDN14; OMA:CLDN14 - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for CLDN14
Genomic location for CLDN14
Band21q22.13Start36,460,621 bp[1]
End36,576,569 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for CLDN14
Genomic location for CLDN14
Band16|16 C4Start93,715,919 bp[2]
End93,809,696 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
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: 93.72 – 93.81 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 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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159261 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.

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. 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


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