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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
  • 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. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. 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 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLDN4 Gene

Genomics for CLDN4 Gene

Regulatory Elements for CLDN4 Gene

Genomic Location for CLDN4 Gene

Chromosome:
7
Start:
73,799,542 bp from pter
End:
73,832,693 bp from pter
Size:
33,152 bases
Orientation:
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:
    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, TJP2/ZO-2 and TJP3/ZO-3. Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions.

neXtProt entry for CLDN4 Gene

Proteomics data for CLDN4 Gene at MOPED

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

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

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.
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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for CLDN4 Gene COMPARTMENTS Subcellular localization image for CLDN4 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CLDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS 9334247
GO:0009925 basal plasma membrane IEA --
GO:0016021 integral component of 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

Interacting Proteins for CLDN4 Gene

Selected Interacting proteins: O14493-CLD4_HUMAN for CLDN4 Gene via I2D

Gene Ontology (GO) - Biological Process for CLDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007565 female pregnancy 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

(7) Drugs for CLDN4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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

Flow Cytometry 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 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, MOPED, and MaxQB for CLDN4 Gene



SOURCE GeneReport for Unigene cluster for CLDN4 Gene Hs.647036

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

Protein tissue co-expression partners for CLDN4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.2 (n)
  • 100 (a)
CLDN4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLDN4 36
  • 88 (a)
OneToOne
CLDN4 35
  • 88.52 (n)
  • 88.04 (a)
dog
(Canis familiaris)
Mammalia CLDN4 35
  • 90.69 (n)
  • 91.37 (a)
CLDN4 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cldn4 36
  • 83 (a)
OneToOne
Cldn4 16
Cldn4 35
  • 82.62 (n)
  • 83.73 (a)
oppossum
(Monodelphis domestica)
Mammalia CLDN4 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLDN4 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn4 35
  • 82.93 (n)
  • 83.73 (a)
chicken
(Gallus gallus)
Aves CLDN4 36
  • 73 (a)
OneToOne
CLDN4 35
  • 76.24 (n)
  • 72.73 (a)
lizard
(Anolis carolinensis)
Reptilia CLDN4 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6291 35
zebrafish
(Danio rerio)
Actinopterygii CLDN4 (3 of 7) 36
  • 59 (a)
OneToMany
cldna 36
  • 63 (a)
OneToMany
cldnb 36
  • 65 (a)
OneToMany
cldnd 36
  • 65 (a)
OneToMany
cldne 36
  • 62 (a)
OneToMany
cldng 36
  • 58 (a)
OneToMany
CR847847.1 36
  • 64 (a)
OneToMany
-- 35
cldnb 35
  • 70.16 (n)
  • 67.54 (a)
Species with no ortholog for CLDN4:
  • 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)

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
rs8629 -- 73,831,189(+) TCCCG(C/T)GGACG utr-variant-5-prime
rs11316 -- 73,832,225(+) CTGTT(C/G)CGGGT utr-variant-3-prime
rs1127156 -- 73,832,166(+) ATCGG(C/T)GTTGG utr-variant-3-prime
rs1127193 -- 73,832,446(+) GGACT(C/T)TCTGC utr-variant-3-prime
rs1127195 -- 73,832,448(+) ACTCT(C/T)TGCCT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv831029 CNV Loss 17160897
nsv888372 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
CLDN4

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

Disorders for CLDN4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CLDN4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- 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.

Relevant External Links for CLDN4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 1997) 2 3 4 23 67
  2. 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 23
  3. 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 23
  4. Improvement of malignant serous effusions diagnosis by quantitative analysis of molecular claudin 4 expression. (PMID: 20175704) Mohamed F. … Genin C. (Biomarkers 2010) 3 23
  5. Altered expression of claudin-3 and claudin-4 in ectopic endometrium of women with endometriosis. (PMID: 18384777) Pan X.Y. … Wang B. (Fertil. Steril. 2009) 3 23

Products for CLDN4 Gene

Sources for CLDN4 Gene

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