Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CLDN14 Gene

Aliases for CLDN14 Gene

  • Claudin 14 2 3
  • DFNB29 3 6
  • Claudin-14 3

External Ids for CLDN14 Gene

Previous HGNC Symbols for CLDN14 Gene

  • DFNB29

Previous GeneCards Identifiers for CLDN14 Gene

  • GC21M034410
  • GC21M036753
  • GC21M036754
  • GC21M037832
  • GC21M023308

Summaries for CLDN14 Gene

Entrez Gene Summary 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 dfnb29 nonsyndromic hearing loss and deafness. Among its related pathways are Integrin Pathway and Cell junction organization. GO annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN9.

UniProtKB/Swiss-Prot for CLDN14 Gene

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

Gene Wiki entry for CLDN14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLDN14 Gene

Genomics for CLDN14 Gene

Regulatory Elements for CLDN14 Gene

Genomic Location for CLDN14 Gene

36,460,621 bp from pter
36,576,569 bp from pter
115,949 bases
Minus strand

Genomic View for CLDN14 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLDN14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN14 Gene

Proteins for CLDN14 Gene

  • Protein details for CLDN14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:

    Protein attributes for CLDN14 Gene

    239 amino acids
    Molecular mass:
    25699 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CLDN14 Gene

Proteomics data for CLDN14 Gene at MOPED

Post-translational modifications for CLDN14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLDN14 Gene

Antibody Products

No data available for DME Specific Peptides for CLDN14 Gene

Domains for CLDN14 Gene

Gene Families for CLDN14 Gene

Protein Domains for CLDN14 Gene

Suggested Antigen Peptide Sequences for CLDN14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the claudin family.
  • Belongs to the claudin family.
genes like me logo Genes that share domains with CLDN14: view

Function for CLDN14 Gene

Molecular function for CLDN14 Gene

GENATLAS Biochemistry:
claudin 14,clostridium perfringens enterotoxin receptor-like,integral membrane protein,claudin family of major structural components of tight junction (TJ) strands
UniProtKB/Swiss-Prot Function:
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

Gene Ontology (GO) - Molecular Function for CLDN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding --
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with CLDN14: view
genes like me logo Genes that share phenotypes with CLDN14: view

Animal Model Products

miRNA for CLDN14 Gene

miRTarBase miRNAs that target CLDN14

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLDN14

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CLDN14 Gene

Localization for CLDN14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLDN14 Gene

Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for CLDN14 Gene COMPARTMENTS Subcellular localization image for CLDN14 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CLDN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 16780588
GO:0005886 plasma membrane IDA 16780588
GO:0005923 bicellular tight junction ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLDN14: view

Pathways for CLDN14 Gene

genes like me logo Genes that share pathways with CLDN14: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for CLDN14 Gene

Gene Ontology (GO) - Biological Process for CLDN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 7644498
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
GO:0034329 cell junction assembly TAS --
GO:0045216 cell-cell junction organization TAS --
GO:0070830 bicellular tight junction assembly TAS --
genes like me logo Genes that share ontologies with CLDN14: view

Drugs for CLDN14 Gene

(1) HMDB Compounds for CLDN14 Gene

Compound Synonyms Cas Number PubMed IDs
  • Ca
genes like me logo Genes that share compounds with CLDN14: view

Transcripts for CLDN14 Gene

Unigene Clusters for CLDN14 Gene

Claudin 14:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLDN14

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLDN14 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: - - - - - -
SP2: - - - -
SP3: -
SP6: - -

Relevant External Links for CLDN14 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CLDN14 Gene

mRNA expression in normal human tissues for CLDN14 Gene

mRNA differential expression in normal tissues according to GTEx for CLDN14 Gene

This gene is overexpressed in Liver (39.5).

Protein differential expression in normal tissues for CLDN14 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CLDN14 Gene

SOURCE GeneReport for Unigene cluster for CLDN14 Gene Hs.660278

mRNA Expression by UniProt/SwissProt for CLDN14 Gene

Tissue specificity: Liver, kidney. Also found in ear
genes like me logo Genes that share expressions with CLDN14: view

Expression partners for CLDN14 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CLDN14 Gene

Orthologs for CLDN14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN14 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CLDN14 35
  • 82.98 (n)
  • 83.12 (a)
CLDN14 36
  • 84 (a)
(Canis familiaris)
Mammalia CLDN14 35
  • 88.19 (n)
  • 88.61 (a)
CLDN14 36
  • 90 (a)
(Mus musculus)
Mammalia Cldn14 35
  • 86.47 (n)
  • 93.31 (a)
Cldn14 16
Cldn14 36
  • 93 (a)
(Pan troglodytes)
Mammalia CLDN14 35
  • 99.16 (n)
  • 100 (a)
CLDN14 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Cldn14 35
  • 86.33 (n)
  • 93.31 (a)
(Monodelphis domestica)
Mammalia CLDN14 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia CLDN14 36
  • 76 (a)
(Gallus gallus)
Aves CLDN14 35
  • 70.98 (n)
  • 71.98 (a)
CLDN14 36
  • 72 (a)
(Anolis carolinensis)
Reptilia CLDN14 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cldn14 35
  • 64.8 (n)
  • 62.07 (a)
(Danio rerio)
Actinopterygii cldn2 35
  • 59 (n)
  • 49.77 (a)
Species with no ortholog for CLDN14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLDN14 Gene

Gene Tree for CLDN14 (if available)
Gene Tree for CLDN14 (if available)

Paralogs for CLDN14 Gene

Paralogs for CLDN14 Gene

(18) SIMAP similar genes for CLDN14 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CLDN14: view

Variants for CLDN14 Gene

Sequence variations from dbSNP and Humsavar for CLDN14 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs97959 -- 36,550,301(+) AGACA(C/T)GCAGC intron-variant
rs128494 -- 36,461,960(+) GAAGG(C/T)GGGAT intron-variant
rs170182 -- 36,485,725(-) CTGTC(A/T)CTTCA intron-variant
rs170183 -- 36,476,036(-) TATGA(C/T)TCTCT intron-variant
rs178150 -- 36,469,058(-) CTGAg(G/T)ccggg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLDN14 Gene

Variant ID Type Subtype PubMed ID
nsv834090 CNV Loss 17160897
esv33286 CNV Gain+Loss 17666407
esv2663397 CNV Deletion 23128226
esv1979371 CNV Deletion 18987734
esv2723394 CNV Deletion 23290073
esv2667105 CNV Deletion 23128226
esv7482 CNV Loss 19470904
nsv512637 CNV Loss 21212237
nsv3506 CNV Insertion 18451855
esv2582352 CNV Deletion 19546169
esv28981 CNV Gain 19812545

Relevant External Links for CLDN14 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLDN14 Gene

Disorders for CLDN14 Gene

(1) OMIM Diseases for CLDN14 Gene (605608)


  • Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]: 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. {ECO:0000269 PubMed:11163249, ECO:0000269 PubMed:22246673, ECO:0000269 PubMed:23235333}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CLDN14 Gene

Relevant External Links for CLDN14

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CLDN14: view

No data available for Novoseek inferred disease relationships and Genatlas for CLDN14 Gene

Publications for CLDN14 Gene

  1. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. (PMID: 12791041) Uyguner O. … Wollnik B. (Clin. Genet. 2003) 3 4 23
  2. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. (PMID: 11163249) Wilcox E.R. … Friedman T.B. (Cell 2001) 2 3 4
  3. Mutation in gap and tight junctions in patients with non-syndromic hearing loss. (PMID: 19254696) Belguith H. … Masmoudi S. (Biochem. Biophys. Res. Commun. 2009) 3 48
  4. Palmitoylation of claudins is required for efficient tight-junction localization. (PMID: 15769849) Van Itallie C.M. … Anderson J.M. (J. Cell. Sci. 2005) 3 23
  5. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. (PMID: 15880785) Wattenhofer M. … Antonarakis S.E. (Hum. Mutat. 2005) 3 23

Products for CLDN14 Gene

Sources for CLDN14 Gene

Back to Top