External Ids for CLDN14 Gene
Previous HGNC Symbols for CLDN14 Gene
Previous GeneCards Identifiers for CLDN14 Gene
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]
GeneCards Summary for CLDN14 Gene
CLDN14 (Claudin 14) is a Protein Coding gene. Diseases associated with CLDN14 include Deafness, Autosomal Recessive 29 and Perrault Syndrome. Among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN2.
UniProtKB/Swiss-Prot Summary for CLDN14 Gene
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.