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Aliases for CLDN14 Gene

Aliases for CLDN14 Gene

  • Claudin 14 2 3
  • DFNB29 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

Chromosome:
21
Start:
36,460,621 bp from pter
End:
36,580,085 bp from pter
Size:
119,465 bases
Orientation:
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:
    O95500-CLD14_HUMAN
    Recommended name:
    Claudin-14
    Protein Accession:
    O95500

    Protein attributes for CLDN14 Gene

    Size:
    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

Antibody Products

No data available for DME Specific Peptides for CLDN14 Gene

Domains & Families 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

O95500

UniProtKB/Swiss-Prot:

CLD14_HUMAN :
  • Belongs to the claudin family.
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

COMPARTMENTS
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 & Interactions 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

No data available for SIGNOR curated interactions for CLDN14 Gene

Drugs & Compounds for CLDN14 Gene

(1) Drugs for CLDN14 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
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: -
SP4:
SP5:
SP6: - -

Relevant External Links for CLDN14 Gene

GeneLoc Exon Structure for
CLDN14
ECgene alternative splicing isoforms for
CLDN14

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 (x39.5).

Protein differential expression in normal tissues from HIPED for CLDN14 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

O95500-CLD14_HUMAN
Tissue specificity: Liver, kidney. Also found in ear
genes like me logo Genes that share expression patterns with CLDN14: view

Protein tissue co-expression partners for CLDN14 Gene

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
cow
(Bos Taurus)
Mammalia CLDN14 35
  • 82.98 (n)
  • 83.12 (a)
CLDN14 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLDN14 35
  • 88.19 (n)
  • 88.61 (a)
CLDN14 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cldn14 35
  • 86.47 (n)
  • 93.31 (a)
Cldn14 16
Cldn14 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLDN14 35
  • 99.16 (n)
  • 100 (a)
CLDN14 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn14 35
  • 86.33 (n)
  • 93.31 (a)
oppossum
(Monodelphis domestica)
Mammalia CLDN14 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLDN14 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLDN14 35
  • 70.98 (n)
  • 71.98 (a)
CLDN14 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLDN14 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cldn14 35
  • 64.8 (n)
  • 62.07 (a)
zebrafish
(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

ENSEMBL:
Gene Tree for CLDN14 (if available)
TreeFam:
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
VAR_010738 Deafness, autosomal recessive, 29 (DFNB29)
VAR_017227 -
VAR_069979 Deafness, autosomal recessive, 29 (DFNB29)
VAR_069980 -
VAR_069981 Deafness, autosomal recessive, 29 (DFNB29)

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

Variation tolerance for CLDN14 Gene

Residual Variation Intolerance Score: 35.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLDN14 Gene

HapMap Linkage Disequilibrium report
CLDN14
Human Gene Mutation Database (HGMD)
CLDN14

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

Disorders for CLDN14 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CLDN14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 29
  • deafness, autosomal recessive, 29
dfnb29 nonsyndromic hearing loss and deafness
  • dfnb 29 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
auditory system disease
  • ear disorder nos
- elite association

UniProtKB/Swiss-Prot

CLD14_HUMAN
  • 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.

Relevant External Links for CLDN14

Genetic Association Database (GAD)
CLDN14
Human Genome Epidemiology (HuGE) Navigator
CLDN14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLDN14
genes like me logo Genes that share disorders with CLDN14: view

No data available for Genatlas for CLDN14 Gene

Publications for CLDN14 Gene

  1. Connexin 26 expression prevents down-regulation of barrier and fence functions of tight junctions by Na+/K+-ATPase inhibitor ouabain in human airway epithelial cell line Calu-3. (PMID: 16982053) Go M. … Sawada N. (Exp. Cell Res. 2006) 23 67
  2. Distinct subdomain organization and molecular composition of a tight junction with adherens junction features. (PMID: 17130295) Nunes F.D. … Kachar B. (J. Cell. Sci. 2006) 23 67
  3. Palmitoylation of claudins is required for efficient tight-junction localization. (PMID: 15769849) Van Itallie C.M. … Anderson J.M. (J. Cell. Sci. 2005) 23 67
  4. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. (PMID: 15880785) Wattenhofer M. … Antonarakis S.E. (Hum. Mutat. 2005) 23 67
  5. Expression and function of tight junctions in the crypt epithelium of human palatine tonsils. (PMID: 15557217) Go M. … Sawada N. (J. Histochem. Cytochem. 2004) 23 67

Products for CLDN14 Gene

Sources for CLDN14 Gene

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