Gene: CLDN14

Alternate names for this Gene: DFNB29

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.13

Description of this Gene: claudin 14

Type of Gene: protein-coding

Gene: LOC105369301

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs219778 in CLDN14;LOC105369301 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs143797113 in CLDN14;LOC105369301 gene and DEAFNESS, AUTOSOMAL RECESSIVE 29 PMID 27838790 2017 A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

PMID 23235333 2013 Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.

PMID 22246673 2012 Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

PMID 11163249 2001 Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

rs128494 in CLDN14;LOC105369301 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs128494 in CLDN14;LOC105369301 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs128494 in CLDN14;LOC105369301 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs219778 in CLDN14;LOC105369301 gene and Kidney Calculi PMID 19561606 2009 Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.

rs219779 in CLDN14;LOC105369301 gene and Parathyroid hormone measurement PMID 27927781 2017 The other SNPs associated with serum PTH concentration included rs4074995 within <i>RGS14</i> (<i>P</i>=6.6 × 10<sup>-17</sup>), rs219779 adjacent to <i>CLDN14</i> (<i>P</i>=3.5 × 10<sup>-16</sup>), rs4443100 near <i>RTDR1</i> (<i>P</i>=8.7 × 10<sup>-9</sup>), and rs73186030 near <i>CASR</i> (<i>P</i>=4.8 × 10<sup>-8</sup>).

rs128494 in CLDN14;LOC105369301 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.