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 CLDN3 Gene

Aliases for CLDN3 Gene

  • Claudin 3 2 3 5
  • Clostridium Perfringens Enterotoxin Receptor 2 2 3 4
  • CPE-Receptor 2 2 3 4
  • Claudin-3 2 3 4
  • HRVP1 2 3 4
  • Ventral Prostate.1-Like Protein 2 3
  • CPE-R 2 3 4
  • C7orf1 3 4
  • CPE-R2 2 3
  • CPETR2 3 4
  • RVP1 2 3
  • Rat Ventral Prostate.1 Protein Homolog 4
  • Ventral Prostate.1 Protein Homolog 3
  • CLDN3 5

External Ids for CLDN3 Gene

Previous HGNC Symbols for CLDN3 Gene

  • C7orf1
  • CPETR2

Previous GeneCards Identifiers for CLDN3 Gene

  • GC07M071823
  • GC07M072581
  • GC07M072595
  • GC07M072627
  • GC07M072821
  • GC07M073183
  • GC07M069065

Summaries for CLDN3 Gene

Entrez Gene Summary for CLDN3 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 intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008]

GeneCards Summary for CLDN3 Gene

CLDN3 (Claudin 3) is a Protein Coding gene. Diseases associated with CLDN3 include Papillary Carcinoma and Williams-Beuren Syndrome. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Cell junction organization. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN4.

UniProtKB/Swiss-Prot Summary for CLDN3 Gene

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

Gene Wiki entry for CLDN3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLDN3 Gene

Genomics for CLDN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLDN3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLDN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLDN3

Top Transcription factor binding sites by QIAGEN in the CLDN3 gene promoter:
  • ATF
  • GR
  • GR-beta
  • NRSF form 1
  • NRSF form 2
  • Sp1

Genomic Locations for CLDN3 Gene

Latest Assembly
chr7:73,768,997-73,770,270
(GRCh38/hg38)
Size:
1,274 bases
Orientation:
Minus strand

Previous Assembly
chr7:73,183,327-73,184,600
(GRCh37/hg19 by Entrez Gene)
Size:
1,274 bases
Orientation:
Minus strand

chr7:73,183,328-73,184,600
(GRCh37/hg19 by Ensembl)
Size:
1,273 bases
Orientation:
Minus strand

Genomic View for CLDN3 Gene

Genes around CLDN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLDN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLDN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN3 Gene

Proteins for CLDN3 Gene

  • Protein details for CLDN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15551-CLD3_HUMAN
    Recommended name:
    Claudin-3
    Protein Accession:
    O15551

    Protein attributes for CLDN3 Gene

    Size:
    220 amino acids
    Molecular mass:
    23319 Da
    Quaternary structure:
    • Can form homo- and heteropolymers with other CLDN. Homopolymers interact with CLDN1 and CLDN2 homopolymers. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 (By similarity).

neXtProt entry for CLDN3 Gene

Post-translational modifications for CLDN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLDN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for CLDN3 Gene

Domains & Families for CLDN3 Gene

Gene Families for CLDN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for CLDN3 Gene

InterPro:
Blocks:
  • Claudin family signature
  • Claudin-3 signature

Suggested Antigen Peptide Sequences for CLDN3 Gene

GenScript: Design optimal peptide antigens:
  • Rat ventral prostate.1 protein homolog (CLD3_HUMAN)
  • cDNA, FLJ93788, Homo sapiens claudin 3 (CLDN3), mRNA (Q75L79_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15551

UniProtKB/Swiss-Prot:

CLD3_HUMAN :
  • Belongs to the claudin family.
Family:
  • Belongs to the claudin family.
genes like me logo Genes that share domains with CLDN3: view

Function for CLDN3 Gene

Molecular function for CLDN3 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 3,clostridium perfringens enterotoxin receptor 2,low affinity,integral membrane protein,claudin family of major structural components of tight junction (TJ) strands,mainly expressed in lung and liver,also in kidney and testis

Phenotypes From GWAS Catalog for CLDN3 Gene

Gene Ontology (GO) - Molecular Function for CLDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 9334247
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 25849148
GO:0042802 identical protein binding IEA,IPI 25849148
genes like me logo Genes that share ontologies with CLDN3: view
genes like me logo Genes that share phenotypes with CLDN3: view

Animal Models for CLDN3 Gene

MGI Knock Outs for CLDN3:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CLDN3 Gene

Localization for CLDN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLDN3 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 CLDN3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0005887 integral component of plasma membrane TAS 9334247
GO:0005911 cell-cell junction IEA,IDA 18774778
GO:0005923 bicellular tight junction IBA,ISS --
genes like me logo Genes that share ontologies with CLDN3: view

Pathways & Interactions for CLDN3 Gene

genes like me logo Genes that share pathways with CLDN3: view

Pathways by source for CLDN3 Gene

2 GeneGo (Thomson Reuters) pathways for CLDN3 Gene
  • Cell adhesion Tight junctions
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms

SIGNOR curated interactions for CLDN3 Gene

Other effect:

Gene Ontology (GO) - Biological Process for CLDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEP 15174142
GO:0001934 positive regulation of protein phosphorylation IMP 27593915
GO:0003382 epithelial cell morphogenesis IEA,ISS --
GO:0007155 cell adhesion IBA 21873635
GO:0008285 negative regulation of cell proliferation IMP 27593915
genes like me logo Genes that share ontologies with CLDN3: view

Drugs & Compounds for CLDN3 Gene

(3) Drugs for CLDN3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959

(2) Additional Compounds for CLDN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLDN3: view

Transcripts for CLDN3 Gene

mRNA/cDNA for CLDN3 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN3

Alternative Splicing Database (ASD) splice patterns (SP) for CLDN3 Gene

No ASD Table

Relevant External Links for CLDN3 Gene

GeneLoc Exon Structure for
CLDN3

Expression for CLDN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLDN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLDN3 Gene

This gene is overexpressed in Colon - Transverse (x19.7), Small Intestine - Terminal Ileum (x6.9), and Pancreas (x4.7).

Protein differential expression in normal tissues from HIPED for CLDN3 Gene

This gene is overexpressed in Nasal epithelium (43.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLDN3 Gene



Protein tissue co-expression partners for CLDN3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLDN3

SOURCE GeneReport for Unigene cluster for CLDN3 Gene:

Hs.647023

Evidence on tissue expression from TISSUES for CLDN3 Gene

  • Intestine(5)
  • Liver(4.5)
  • Pancreas(4.2)
  • Kidney(3.1)
  • Blood(2.4)
  • Lung(2.2)
  • Thyroid gland(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with CLDN3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLDN3 Gene

Orthologs for CLDN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CLDN3 29 30
  • 99.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CLDN3 29 30
  • 92.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLDN3 29 30
  • 91.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cldn3 29 16 30
  • 87.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cldn3 29
  • 86 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CLDN3 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CLDN3 29 30
  • 80.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CLDN3 30
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cldn3 29
  • 67.61 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC792492 29
  • 68.22 (n)
cldnh 30
  • 64 (a)
OneToMany
cldnc 30
  • 60 (a)
OneToMany
cldne 29
Species where no ortholog for CLDN3 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)
  • Oppossum (Monodelphis domestica)
  • 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 CLDN3 Gene

ENSEMBL:
Gene Tree for CLDN3 (if available)
TreeFam:
Gene Tree for CLDN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLDN3: view image
Alliance of Genome Resources:
Additional Orthologs for CLDN3

Paralogs for CLDN3 Gene

(19) SIMAP similar genes for CLDN3 Gene using alignment to 2 proteins:

  • CLD3_HUMAN
  • Q75L79_HUMAN
genes like me logo Genes that share paralogs with CLDN3: view

Variants for CLDN3 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CLDN3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CLDN3 Gene

Variant ID Type Subtype PubMed ID
esv2761337 CNV loss 21179565
nsv469841 CNV loss 16826518
nsv5791 CNV insertion 18451855
nsv831028 CNV loss 17160897
nsv831029 CNV loss 17160897

Variation tolerance for CLDN3 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLDN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLDN3
Leiden Open Variation Database (LOVD)
CLDN3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLDN3 Gene

Disorders for CLDN3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CLDN3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
papillary carcinoma
  • carcinoma papillary
williams-beuren syndrome
  • wbs
prostate transitional cell carcinoma
  • transitional cell carcinoma of prostate
endometrial cancer
  • endometrial cancer, familial
ovarian cancer
  • ovarian cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search CLDN3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLD3_HUMAN
  • Note=CLDN3 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Additional Disease Information for CLDN3

genes like me logo Genes that share disorders with CLDN3: view

No data available for Genatlas for CLDN3 Gene

Publications for CLDN3 Gene

  1. Analysis of a human gene homologous to rat ventral prostate.1 protein. (PMID: 9441748) Peacock RE … Inglehearn CF (Genomics 1997) 2 3 4 22
  2. Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo. (PMID: 9334247) Katahira J … Sugimoto N (The Journal of biological chemistry 1997) 3 4 22
  3. Derepression of CLDN3 and CLDN4 during ovarian tumorigenesis is associated with loss of repressive histone modifications. (PMID: 20053926) Kwon MJ … Shin YK (Carcinogenesis 2010) 3 22
  4. Claudin expression profiles in Epstein-Barr virus-associated nasopharyngeal carcinoma. (PMID: 20204275) Kojima F … Okabe H (Oncology reports 2010) 3 22
  5. Urine-based detection of intestinal tight junction loss. (PMID: 19525861) Thuijls G … Buurman WA (Journal of clinical gastroenterology 2010) 3 22

Products for CLDN3 Gene

Sources for CLDN3 Gene