CLDN14

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Claudin 14
Identifiers
Symbols CLDN14 ; DFNB29
External IDs OMIM605608 MGI1860425 HomoloGene8115 GeneCards: CLDN14 Gene
RNA expression pattern
PBB GE CLDN14 210689 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23562 56173
Ensembl ENSG00000159261 ENSMUSG00000047109
UniProt O95500 Q9Z0S3
RefSeq (mRNA) NM_001146077 NM_001165925
RefSeq (protein) NP_001139549 NP_001159397
Location (UCSC) Chr 21:
37.83 – 37.95 Mb
Chr 16:
93.92 – 94.01 Mb
PubMed search [1] [2]

Claudin-14 is a protein that in humans is encoded by the CLDN14 gene.[1][2] 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.[2]

There are also suggestions that CLDN14 plays a role in tumour angiogenesis (blood vessel formation),[3] as deletion of a single copy of this gene leads to tight junction defects and leaky blood vessels in a mouse model.

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: CLDN14 claudin 14". 
  3. ^ 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[edit]