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Aliases for CLDN4 Gene

Aliases for CLDN4 Gene

  • Claudin 4 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 8 Protein 2 3 4
  • Clostridium Perfringens Enterotoxin Receptor 1 2 3
  • CPE-Receptor 3 4
  • CPETR1 3 4
  • WBSCR8 3 4
  • CPE-R 3 4
  • CPER 3 4
  • Clostridium Perfringens Enterotoxin Receptor 4
  • Claudin-4 3
  • HCPE-R 3
  • CPETR 3

External Ids for CLDN4 Gene

Previous HGNC Symbols for CLDN4 Gene

  • CPETR1

Previous GeneCards Identifiers for CLDN4 Gene

  • GC07P071885
  • GC07P072643
  • GC07P072657
  • GC07P072654
  • GC07P072686
  • GC07P072880
  • GC07P073213
  • GC07P069128

Summaries for CLDN4 Gene

Entrez Gene Summary for CLDN4 Gene

  • The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013]

GeneCards Summary for CLDN4 Gene

CLDN4 (Claudin 4) is a Protein Coding gene. Diseases associated with CLDN4 include Williams-Beuren Syndrome and Peritoneal Serous Papillary Adenocarcinoma. Among its related pathways are Circadian rythm related genes and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. GO annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN3.

UniProtKB/Swiss-Prot for CLDN4 Gene

  • Plays a major role in tight junction-specific obliteration of the intercellular space.

Gene Wiki entry for CLDN4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLDN4 Gene

Genomics for CLDN4 Gene

Regulatory Elements for CLDN4 Gene

Enhancers for CLDN4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G073736 2.1 FANTOM5 Ensembl ENCODE dbSUPER 3.7 -58.8 -58818 7.8 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 METTL27 ABHD11-AS1 MIR590 ABHD11 CLDN4 STX1A MLXIPL CLDN3 TBL2 BAZ1B
GH07G073821 1.9 FANTOM5 Ensembl ENCODE dbSUPER 3.4 +23.4 23442 3.1 HDGF PKNOX1 ATF1 ARNT SIN3A GLIS2 CBX5 GATA2 ELK1 FOS METTL27 VPS37D ABHD11-AS1 CLDN4 CLDN3 GC07P073835
GH07G073799 0.9 ENCODE dbSUPER 0.7 +0.1 97 1.1 ELF3 SOX5 SOX13 MTA2 NR2F1 ZFHX2 JUND IKZF1 ETV4 NBN METTL27 CLDN4 GC07P073835
GH07G073791 1.5 Ensembl ENCODE dbSUPER 0.4 -6.4 -6378 3.0 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 CBX5 ELK1 GATA2 FOS METTL27 ABHD11 CLDN4 CLDN3
GH07G073825 1.6 Ensembl ENCODE dbSUPER 0.3 +30.4 30395 8.4 HDGF PKNOX1 FOXA2 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B METTL27 TMEM270 BUD23 DNAJC30 VPS37D ABHD11-AS1 ABHD11 GC07P073835 CLDN4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CLDN4 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLDN4 Gene

73,799,542 bp from pter
73,832,693 bp from pter
33,152 bases
Plus strand

Genomic View for CLDN4 Gene

Genes around CLDN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLDN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLDN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN4 Gene

Proteins for CLDN4 Gene

  • Protein details for CLDN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:

    Protein attributes for CLDN4 Gene

    209 amino acids
    Molecular mass:
    22077 Da
    Quaternary structure:
    • Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions.

    Three dimensional structures from OCA and Proteopedia for CLDN4 Gene

neXtProt entry for CLDN4 Gene

Post-translational modifications for CLDN4 Gene

  • Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLDN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CLDN4 Gene

Domains & Families for CLDN4 Gene

Gene Families for CLDN4 Gene

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 CLDN4: view

Function for CLDN4 Gene

Molecular function for CLDN4 Gene

GENATLAS Biochemistry:
claudin 4,clostridium perfringens enterotoxin receptor 4,situated in the Williams-Beuren critical region,high affinity,claudin family of major structural components of tight junction (TJ) strands,expressed in lung,intestine and kidney
UniProtKB/Swiss-Prot Function:
Plays a major role in tight junction-specific obliteration of the intercellular space.

Gene Ontology (GO) - Molecular Function for CLDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 9334247
GO:0005198 structural molecule activity IEA --
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with CLDN4: view
genes like me logo Genes that share phenotypes with CLDN4: view

Animal Models for CLDN4 Gene

MGI Knock Outs for CLDN4:

Animal Model Products

miRNA for CLDN4 Gene

miRTarBase miRNAs that target CLDN4

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLDN4 Gene

Localization for CLDN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLDN4 Gene

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

Subcellular locations from

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 CLDN4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CLDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 20375010
GO:0005887 integral component of plasma membrane IMP 23407391
GO:0005923 bicellular tight junction ISS --
GO:0009925 basal plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CLDN4: view

Pathways & Interactions for CLDN4 Gene

genes like me logo Genes that share pathways with CLDN4: view

Gene Ontology (GO) - Biological Process for CLDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007565 female pregnancy IEA --
GO:0007623 circadian rhythm IEA --
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
GO:0032570 response to progesterone IEA --
genes like me logo Genes that share ontologies with CLDN4: view

No data available for SIGNOR curated interactions for CLDN4 Gene

Drugs & Compounds for CLDN4 Gene

(8) Drugs for CLDN4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CLDN4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLDN4: view

Transcripts for CLDN4 Gene

Unigene Clusters for CLDN4 Gene

Claudin 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLDN4 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4
SP1: - - -
SP2: -

Relevant External Links for CLDN4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CLDN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLDN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLDN4 Gene

This gene is overexpressed in Colon - Transverse (x8.3), Minor Salivary Gland (x7.0), and Esophagus - Mucosa (x6.5).

Protein differential expression in normal tissues from HIPED for CLDN4 Gene

This gene is overexpressed in Pancreatic juice (35.9) and Lung (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CLDN4 Gene

Protein tissue co-expression partners for CLDN4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CLDN4 Gene:


SOURCE GeneReport for Unigene cluster for CLDN4 Gene:


Evidence on tissue expression from TISSUES for CLDN4 Gene

  • Intestine(5)
  • Stomach(4.6)
  • Nervous system(4)
  • Lung(3.9)
  • Pancreas(3.6)
  • Kidney(3.4)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with CLDN4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLDN4 Gene

Orthologs for CLDN4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CLDN4 34 35
  • 99.2 (n)
(Canis familiaris)
Mammalia CLDN4 34 35
  • 90.69 (n)
(Bos Taurus)
Mammalia CLDN4 34 35
  • 88.52 (n)
(Monodelphis domestica)
Mammalia CLDN4 35
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia CLDN4 35
  • 86 (a)
(Rattus norvegicus)
Mammalia Cldn4 34
  • 82.93 (n)
(Mus musculus)
Mammalia Cldn4 34 16 35
  • 82.62 (n)
(Gallus gallus)
Aves CLDN4 34 35
  • 76.24 (n)
(Anolis carolinensis)
Reptilia CLDN4 35
  • 72 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6291 34
(Danio rerio)
Actinopterygii cldnb 34 35
  • 70.16 (n)
cldnd 35
  • 65 (a)
CR847847.1 35
  • 64 (a)
cldna 35
  • 63 (a)
cldne 35
  • 62 (a)
CLDN4 (3 of 7) 35
  • 59 (a)
cldng 35
  • 58 (a)
-- 34
Species where no ortholog for CLDN4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLDN4 Gene

Gene Tree for CLDN4 (if available)
Gene Tree for CLDN4 (if available)

Paralogs for CLDN4 Gene

(18) SIMAP similar genes for CLDN4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CLDN4: view

Variants for CLDN4 Gene

Sequence variations from dbSNP and Humsavar for CLDN4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000673893 -- 73,832,006(+) CACTC(A/G)GACAA utr-variant-3-prime
rs1002436808 -- 73,829,373(+) GAACT(A/G)GACAC upstream-variant-2KB
rs1002774389 -- 73,830,699(+) CTGGC(C/T)GGGTC upstream-variant-2KB
rs1003089438 -- 73,830,453(+) CAATG(A/C)CGCAA upstream-variant-2KB
rs1005192896 -- 73,830,206(+) CTGGC(A/C)CCACC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CLDN4 Gene

Variant ID Type Subtype PubMed ID
nsv831029 CNV loss 17160897

Variation tolerance for CLDN4 Gene

Residual Variation Intolerance Score: 50.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLDN4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLDN4 Gene

Disorders for CLDN4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CLDN4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
peritoneal serous papillary adenocarcinoma
  • primary serous papillary carcinoma of peritoneum
gastric adenocarcinoma
  • adenocarcinoma of stomach
peritoneal serous adenocarcinoma
  • primary peritoneal serous adenocarcinoma
pancreatic cancer
  • pancreatic carcinoma, somatic
- elite association - COSMIC cancer census association via MalaCards
Search CLDN4 in MalaCards View complete list of genes associated with diseases


  • Note=CLDN4 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.

Relevant External Links for CLDN4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CLDN4: view

No data available for Genatlas for CLDN4 Gene

Publications for CLDN4 Gene

  1. Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo. (PMID: 9334247) Katahira J. … Sugimoto N. (J. Biol. Chem. 1997) 2 3 4 22 64
  2. EphA2 phosphorylates the cytoplasmic tail of Claudin-4 and mediates paracellular permeability. (PMID: 16236711) Tanaka M. … Sakai R. (J. Biol. Chem. 2005) 3 4 22 64
  3. Derepression of CLDN3 and CLDN4 during ovarian tumorigenesis is associated with loss of repressive histone modifications. (PMID: 20053926) Kwon M.J. … Shin Y.K. (Carcinogenesis 2010) 3 22 64
  4. Improvement of malignant serous effusions diagnosis by quantitative analysis of molecular claudin 4 expression. (PMID: 20175704) Mohamed F. … Genin C. (Biomarkers 2010) 3 22 64
  5. Interleukin-1 receptor phosphorylation activates Rho kinase to disrupt human gastric tight junctional claudin-4 during Helicobacter pylori infection. (PMID: 20070312) Lapointe T.K. … Buret A.G. (Cell. Microbiol. 2010) 3 22 64

Products for CLDN4 Gene

Sources for CLDN4 Gene

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