CLDN14

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CLDN14
Identifiers
Aliases CLDN14, DFNB29, claudin 14
External IDs MGI: 1860425 HomoloGene: 8115 GeneCards: CLDN14
Genetically Related Diseases
nephrolithiasis[1]
RNA expression pattern
PBB GE CLDN14 210689 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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

Location (UCSC) Chr 21: 36.46 – 36.58 Mb Chr 16: 93.92 – 94.01 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Claudin-14 is a protein that in humans is encoded by the CLDN14 gene.[4][5] 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.[5]

There are also suggestions that CLDN14 plays a role in tumour angiogenesis (blood vessel formation),[6] 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. ^ "Diseases that are genetically associated with CLDN14 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: CLDN14 claudin 14". 
  6. ^ 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 3652830Freely accessible. PMID 23675413. 

External links[edit]

Further reading[edit]