Claudin 14

Alternative Names

  • CLDN14
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OMIM Number

605608

NCBI Gene ID

23562

Uniprot ID

O95500

Length

115,949 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Claudin-14

Molecular Mass

25699 Da

Amino Acid Count

239

Genomic Location

chr21:36,460,621-36,576,569

Gene Map Locus
21q22.13

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]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001146079.2:c.278T>GUnited Arab EmiratesNC_000021.9:g.36461418A>CLikely PathogenicDeafness, Autosomal Recessive 29NG_011777.1:g.120152T>G; NM_001146079.2:c.278T>G; NP_001139551.1:p.Ile93Arg
NM_001146079.2:c.414G>AYemenNC_000021.9:g.36461282C>TLikely PathogenicLikely PathogenicDeafness, Autosomal Recessive 29NG_011777.1:g.120288G>A; NM_001146079.2:c.414G>A; NP_001139551.1:p.Trp138Ter1424963061810013
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