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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

  • CPETR
  • 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 Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (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

  • Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

Gene Wiki entry for CLDN4 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for CLDN4 Gene

Promoters and enhancers for CLDN4 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
GH07J073825 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.3 +30.4 30395 8.4 HDGF PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 CLDN4 METTL27 BUD23 STAG3L3 POM121B POM121 TMEM270 NSUN5P2 DNAJC30 NSUN5
GH07J073799 Enhancer 0.8 ENCODE dbSUPER 650.7 +0.1 97 1.1 ELF3 SOX5 SOX13 ETV5 ZFHX2 JUND IKZF1 ETV4 TCF7 CLDN4 METTL27 GC07P073835
GH07J073736 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.8 -58.8 -58817 7.8 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 ZNF610 GLIS1 ABHD11 GC07P073741 GC07P073742 METTL27 STAG3L3 POM121B ABHD11-AS1 POM121 NSUN5P2 MIR590
GH07J073821 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.4 +23.4 23442 3.1 HDGF PKNOX1 CLOCK ATF1 ARNT NEUROD1 SIN3A GLIS2 CBX5 GATA2 METTL27 VPS37D ABHD11-AS1 CLDN4 CLDN3 GC07P073835
GH07J073791 Enhancer 1.4 Ensembl ENCODE dbSUPER 0.4 -6.4 -6377 3 HDGF PKNOX1 SMAD1 ATF1 FOXA2 ARNT TCF12 ZNF766 CBX5 GATA2 STAG3L3 TBL2 FKBP6 BUD23 POM121B POM121 METTL27 ABHD11 CLDN4 CLDN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLDN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLDN4 gene promoter:

Genomic Locations for CLDN4 Gene

Genomic Locations for CLDN4 Gene
chr7:73,799,542-73,832,693
(GRCh38/hg38)
Size:
33,152 bases
Orientation:
Plus strand
chr7:73,213,872-73,247,015
(GRCh37/hg19)

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:
    O14493-CLD4_HUMAN
    Recommended name:
    Claudin-4
    Protein Accession:
    O14493

    Protein attributes for CLDN4 Gene

    Size:
    209 amino acids
    Molecular mass:
    22077 Da
    Quaternary structure:
    • Directly interacts with TJP1/ZO-1 (PubMed:16236711). Interacts with TJP2/ZO-2 and TJP3/ZO-3 (By similarity). Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions (PubMed:16236711). Interacts with CLDN1 (PubMed:20375010). Interacts with CLDN4 (By similarity).

    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:

No data available for DME Specific Peptides for CLDN4 Gene

Domains & Families for CLDN4 Gene

Gene Families for CLDN4 Gene

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

Protein Domains for CLDN4 Gene

Graphical View of Domain Structure for InterPro Entry

O14493

UniProtKB/Swiss-Prot:

CLD4_HUMAN :
  • Belongs to the claudin family.
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

UniProtKB/Swiss-Prot Function:
Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
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

Phenotypes From GWAS Catalog for CLDN4 Gene

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:0005254 chloride channel activity ISS --
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

CRISPR Products

miRNA for CLDN4 Gene

miRTarBase miRNAs that target CLDN4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN4

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. Note=CLDN4 is required for tight junction localization in the kidney. {ECO:0000250 UniProtKB:O35054}.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IDA 20375010
GO:0005887 integral component of plasma membrane IMP,TAS 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:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IEA --
GO:0007565 female pregnancy IEA --
GO:0007623 circadian rhythm 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

mRNA/cDNA for CLDN4 Gene

Unigene Clusters for CLDN4 Gene

Claudin 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN4

Clone Products

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

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4
SP1: - - -
SP2: -
SP3:

Relevant External Links for CLDN4 Gene

GeneLoc Exon Structure for
CLDN4
ECgene alternative splicing isoforms for
CLDN4

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, MaxQB, and MOPED for CLDN4 Gene



Protein tissue co-expression partners for CLDN4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CLDN4 Gene:

CLDN4

SOURCE GeneReport for Unigene cluster for CLDN4 Gene:

Hs.647036

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(2.3)
genes like me logo Genes that share expression patterns with CLDN4: view

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
chimpanzee
(Pan troglodytes)
Mammalia CLDN4 34 33
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CLDN4 34 33
  • 90.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CLDN4 34 33
  • 88.52 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLDN4 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLDN4 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn4 33
  • 82.93 (n)
mouse
(Mus musculus)
Mammalia Cldn4 16 34 33
  • 82.62 (n)
chicken
(Gallus gallus)
Aves CLDN4 34 33
  • 76.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLDN4 34
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6291 33
zebrafish
(Danio rerio)
Actinopterygii cldnb 34 33
  • 70.16 (n)
OneToMany
cldnd 34
  • 65 (a)
OneToMany
CR847847.1 34
  • 64 (a)
OneToMany
cldna 34
  • 63 (a)
OneToMany
cldne 34
  • 62 (a)
OneToMany
CLDN4 (3 of 7) 34
  • 59 (a)
OneToMany
cldng 34
  • 58 (a)
OneToMany
-- 33
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

ENSEMBL:
Gene Tree for CLDN4 (if available)
TreeFam:
Gene Tree for CLDN4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLDN4: view image

Paralogs for CLDN4 Gene

Paralogs for CLDN4 Gene

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

  • CLD4_HUMAN
  • Q75L80_HUMAN
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 Variation AA Info Type
rs1000673893 -- 73,832,006(+) G/A 3_prime_UTR_variant
rs1002436808 -- 73,829,373(+) G/A upstream_transcript_variant
rs1002774389 -- 73,830,699(+) T/C upstream_transcript_variant
rs1003089438 -- 73,830,453(+) C/A upstream_transcript_variant
rs1005192896 -- 73,830,206(+) C/A upstream_transcript_variant

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)

Additional Variant Information for CLDN4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLDN4

SNP Genotyping and Copy Number Assay Products

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
  • wbs
peritoneal serous papillary adenocarcinoma
  • primary serous papillary carcinoma of peritoneum
gastric adenocarcinoma
  • adenocarcinoma of stomach
peritoneal serous adenocarcinoma
  • primary peritoneal serous adenocarcinoma
ovarian cancer
  • ovarian cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search CLDN4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLD4_HUMAN
  • 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.

Additional Disease Information for CLDN4

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 (The Journal of biological chemistry 1997) 2 3 4 22 58
  2. EphA2 phosphorylates the cytoplasmic tail of Claudin-4 and mediates paracellular permeability. (PMID: 16236711) Tanaka M … Sakai R (The Journal of biological chemistry 2005) 3 4 22 58
  3. Claudin association with CD81 defines hepatitis C virus entry. (PMID: 20375010) Harris HJ … McKeating JA (The Journal of biological chemistry 2010) 3 4 58
  4. 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 58
  5. Interleukin-1 receptor phosphorylation activates Rho kinase to disrupt human gastric tight junctional claudin-4 during Helicobacter pylori infection. (PMID: 20070312) Lapointe TK … Buret AG (Cellular microbiology 2010) 3 22 58

Products for CLDN4 Gene

Sources for CLDN4 Gene

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