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Gene : CLDN14 Homo sapiens

Name  ? claudin 14 Cytological Location  21q22.13
Brief Description  claudin 14
Description  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]
  • synonyms:
  • CLDN14,
  • DFNB29,
  • DFNB29,
  • HGNC:2035,
  • AJ132445,
  • NM_144492,
  • uc002yvo.2,
  • OTTHUMG00000086638
  • identifiers:
  • 23562,
  • ENSG00000159261,
  • CLDN14

Genome feature

Region: gene ? Length: 115949  
Location: 21:36460621-36576569 reverse strand Cyto location: 21q22.13


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Proteins

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SNPs

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Disease

1 Diseases

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Expression

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Other

204 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results