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Genetics Home Reference: your guide to understanding genetic conditions
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CLDN14

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CLDN14 gene?

The official name of this gene is “claudin 14.”

CLDN14 is the gene's official symbol. The CLDN14 gene is also known by other names, listed below.

What is the normal function of the CLDN14 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23562):

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]

From UniProt (CLD14_HUMAN) (http://www.uniprot.org/uniprot/O95500):

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

How are changes in the CLDN14 gene related to health conditions?

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the CLDN14 gene.
UniProt (CLD14_HUMAN) (http://www.uniprot.org/uniprot/O95500) provides the following information about the CLDN14 gene's known or predicted involvement in human disease.

Deafness, autosomal recessive, 29 (DFNB29): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23562) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CLDN14 gene.
  • Deafness, autosomal recessive 29
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the CLDN14 gene and its association with health conditions.
OMIM
Number
Title

Where is the CLDN14 gene located?

Cytogenetic Location: 21q22.3

Molecular Location on chromosome 21: base pairs 36,460,621 to 36,580,085

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/23562))

The CLDN14 gene is located on the long (q) arm of chromosome 21 at position 22.3.

The CLDN14 gene is located on the long (q) arm of chromosome 21 at position 22.3.

More precisely, the CLDN14 gene is located from base pair 36,460,621 to base pair 36,580,085 on chromosome 21.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CLDN14?

You and your healthcare professional may find the following resources about CLDN14 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CLDN14 gene or gene products?

  • DFNB29

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CLDN14?

autosomal ; autosomal recessive ; bone mineral density ; calcium ; cell ; cell adhesion ; domain ; epithelial ; gene ; kidney ; kidney stones ; mineral ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; tight junctions ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: February 8, 2016