CLDN14 Gene (Protein Coding)

Claudin 14

GC21M036460
GIFtS:
44
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 comp... See more...

Aliases for CLDN14 Gene

Aliases for CLDN14 Gene

  • Claudin 14 2 3 5
  • Claudin-14 3 4
  • DFNB29 3
  • CLDN14 5

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 Perrault Syndrome. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CLDN14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLDN14 Gene

Genomics for CLDN14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CLDN14 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH21J036477 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 616.4 +98.2 98168 4.4 GATAD2A CTCF ZBTB33 REST TFE3 SOX13 NFKBIZ RCOR2 RXRB IRF2 CLDN14 ENSG00000233818 ENSG00000279365 lnc-CHAF1B-4 ENSG00000230479 LOC105369301 CHAF1B
GH21J036487 Promoter/Enhancer 0.9 EPDnew Ensembl 600.2 +88.6 88560 1.6 ZNF7 SP1 SCRT2 CEBPB ATF3 CTCF RAD21 ZNF366 HNF4A RXRA PSMD4P1 CLDN14 ENSG00000233818 ENSG00000279365 lnc-HLCS-3 LOC105369301 CHAF1B
GH21J036466 Promoter 0.4 EPDnew 600.1 +110.1 110082 0.1 POLR2A CLDN14 lnc-CHAF1B-4 ENSG00000279365 ENSG00000233818 ENSG00000230479 LOC105369301 CHAF1B
GH21J036500 Enhancer 0.9 Ensembl ENCODE 10.7 +76.5 76469 1.4 CREB1 REST ZNF629 ZNF692 FOXA1 ZIC2 PATZ1 SP1 ZNF341 ZNF561 MORC3 CLDN14 ENSG00000242553 DYRK1A RPL23AP3 PSMD4P1 lnc-HLCS-3 ENSG00000233818 CHAF1B
GH21J036646 Enhancer 0.9 Ensembl ENCODE 10.6 -70.8 -70758 2.1 RXRB IRF2 GABPA SOX13 ZNF316 FOXA2 MAFF USF1 MAX MAFK ENSG00000242553 RIMKLBP1 MORC3 CLDN14 SETD4 ENSG00000231324 ENSG00000224269 LOC105369308 SIM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLDN14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLDN14

Top Transcription factor binding sites by QIAGEN in the CLDN14 gene promoter:
  • AML1a
  • c-Ets-1
  • Chx10
  • FOXO1
  • FOXO1a
  • GR
  • GR-alpha
  • ZID

Genomic Locations for CLDN14 Gene

Genomic Locations for CLDN14 Gene
chr21:36,460,621-36,576,569
(GRCh38/hg38)
Size:
115,949 bases
Orientation:
Minus strand
chr21:37,832,919-37,948,867
(GRCh37/hg19)
Size:
115,949 bases
Orientation:
Minus strand

Genomic View for CLDN14 Gene

Genes around CLDN14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLDN14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLDN14 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CLDN14 Gene

Proteins for CLDN14 Gene

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  • 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

Protein Expression for CLDN14 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CLDN14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLDN14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLDN14 Gene

Domains & Families for CLDN14 Gene

Gene Families for CLDN14 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for CLDN14 Gene

InterPro:
Blocks:
  • Claudin-14 signature
  • Claudin family signature
ProtoNet:

Suggested Antigen Peptide Sequences for CLDN14 Gene

GenScript: Design optimal peptide antigens:
  • Claudin-14 (CLD14_HUMAN)

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

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  2. CRISPR
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Molecular function for CLDN14 Gene

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

Phenotypes From GWAS Catalog for CLDN14 Gene

Gene Ontology (GO) - Molecular Function for CLDN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
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

Human Phenotype Ontology for CLDN14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLDN14 Gene

MGI Knock Outs for CLDN14:

Animal Model Products

  • Taconic Biosciences Mouse Models for CLDN14

CRISPR Products

miRNA for CLDN14 Gene

miRTarBase miRNAs that target CLDN14

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN14

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLDN14 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLDN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum HDA 16780588
GO:0005886 plasma membrane IEA,IBA 21873635
GO:0005923 bicellular tight junction ISS --
GO:0016020 membrane IEA --
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

Pathways by source for CLDN14 Gene

2 GeneGo (Thomson Reuters) pathways for CLDN14 Gene
  • Cell adhesion Tight junctions
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms
3 Qiagen pathways for CLDN14 Gene
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics
  • Transendothelial Migration of Leukocytes

Gene Ontology (GO) - Biological Process for CLDN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA 21873635
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
GO:0065003 protein-containing complex assembly TAS 7644498
GO:0070830 bicellular tight junction assembly IBA 21873635
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

Products:

  1. Drug

(1) Drugs for CLDN14 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with CLDN14: view

Transcripts for CLDN14 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CLDN14 Gene

5 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN14

Clone 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

Expression for CLDN14 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLDN14 Gene

mRNA expression in normal human tissues for CLDN14 Gene
mRNA expression by BioGPS for CLDN14 GenemRNA expression by GTEx for CLDN14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

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 and MOPED for CLDN14 Gene



Protein tissue co-expression partners for CLDN14 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLDN14

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.

Evidence on tissue expression from TISSUES for CLDN14 Gene

  • Liver(4.5)
  • Skin(4.3)
  • Kidney(2.4)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLDN14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CLDN14: view

Orthologs for CLDN14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CLDN14 30 31
  • 99.16 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CLDN14 30 31
  • 88.19 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cldn14 30 17 31
  • 86.47 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cldn14 30
  • 86.33 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CLDN14 31
  • 84 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CLDN14 30 31
  • 82.98 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CLDN14 31
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CLDN14 30 31
  • 70.98 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CLDN14 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cldn14 30
  • 64.8 (n)
Zebrafish
(Danio rerio)
 Actinopterygii cldn2 30
  • 59 (n)
Species where no ortholog for CLDN14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CLDN14: view image

Paralogs for CLDN14 Gene

Paralogs for CLDN14 Gene

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

  • CLD14_HUMAN
genes like me logo Genes that share paralogs with CLDN14: view

Variants for CLDN14 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLDN14 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
684204 Likely Benign: not provided 36,461,171(-) G/A SYNONYMOUS_VARIANT
748472 Likely Benign: not provided 36,461,105(-) C/T SYNONYMOUS_VARIANT
754785 Likely Benign: not provided 36,461,090(-) C/G SYNONYMOUS_VARIANT
894859 Uncertain Significance: Deafness, autosomal recessive 29 36,461,771(-) G/A FIVE_PRIME_UTR_VARIANT
894860 Uncertain Significance: Deafness, autosomal recessive 29 36,477,451(-) T/G FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CLDN14 Gene

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

Variant ID Type Subtype PubMed ID
esv1979371 CNV deletion 18987734
esv2582352 CNV deletion 19546169
esv2663397 CNV deletion 23128226
esv2667105 CNV deletion 23128226
esv2723394 CNV deletion 23290073
esv28981 CNV gain 19812545
esv33286 CNV gain+loss 17666407
esv3384461 CNV duplication 20981092
esv3557683 CNV deletion 23714750
esv3557684 CNV deletion 23714750
esv3557685 CNV deletion 23714750
esv3646972 CNV loss 21293372
esv3646973 CNV gain 21293372
esv7482 CNV loss 19470904
nsv1064290 CNV loss 25217958
nsv1072176 CNV deletion 25765185
nsv1114290 CNV deletion 24896259
nsv1116920 CNV deletion 24896259
nsv1126608 CNV deletion 24896259
nsv3506 CNV insertion 18451855
nsv512637 CNV loss 21212237
nsv587470 CNV loss 21841781
nsv834090 CNV loss 17160897
nsv962676 CNV duplication 23825009

Variation tolerance for CLDN14 Gene

Residual Variation Intolerance Score: 35.5% 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)

Additional Variant Information for CLDN14 Gene

Human Gene Mutation Database (HGMD)
CLDN14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLDN14

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

Disorders for CLDN14 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CLDN14 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 29
  • dfnb29
perrault syndrome
  • gonadal dysgenesis, xx type
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal dominant 51
  • dfna51
deafness, autosomal recessive 49
  • dfnb49
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for CLDN14

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

No data available for 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 (Clinical genetics 2003) 3 4 23
  2. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. (PMID: 11163249) Wilcox ER … Friedman TB (Cell 2001) 2 3 4
  3. Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. (PMID: 23235333) Bashir ZE … Riazuddin S (Journal of human genetics 2013) 3 4
  4. Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss. (PMID: 23590985) Charif M … Barakat A (Gene 2013) 3 4
  5. Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. (PMID: 22246673) Lee K … Leal SM (American journal of medical genetics. Part A 2012) 3 4

ExternalLinks

View latest publications for CLDN14 gene in Mastermind

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