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Aliases for CLDN4 Gene

Aliases for CLDN4 Gene

  • Claudin 4 2 3
  • Williams-Beuren Syndrome Chromosomal Region 8 Protein 2 3 4
  • CPETR1 3 4 6
  • CPER 3 4 6
  • Clostridium Perfringens Enterotoxin Receptor 1 2 3
  • CPE-Receptor 3 4
  • WBSCR8 3 4
  • CPE-R 3 4
  • Clostridium Perfringens Enterotoxin Receptor 4
  • Claudin-4 3
  • HCPE-R 3
  • CPETR 3

External Ids for CLDN4 Gene

Previous Symbols for CLDN4 Gene

  • CPETR
  • CPETR1

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 ovarian cystadenoma and williams-beuren syndrome. Among its related pathways are Integrin Pathway and Cell junction organization. GO annotations related to this gene include identical protein binding and transmembrane signaling receptor 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

Genomic Location for CLDN4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLDN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN4 Gene

Regulatory Elements 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
    Secondary Accessions:

    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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CLDN4 Gene

Domains for CLDN4 Gene

Gene Families for CLDN4 Gene

HGNC:

Protein Domains for CLDN4 Gene

UniProtKB/Swiss-Prot:

CLD4_HUMAN
Family:
  • Belongs to the claudin family.:
    • O14493
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:0005515 protein binding --
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with CLDN4: view

Phenotypes for CLDN4 Gene

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

Animal Models for CLDN4 Gene

MGI Knock Outs for CLDN4:

miRNA for CLDN4 Gene

miRTarBase miRNAs that target CLDN4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 5
cytoskeleton 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CLDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS 9334247
GO:0005887 integral component of plasma membrane IMP 23407391
GO:0005923 bicellular tight junction ISS --
GO:0009925 basal plasma membrane IEA --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with CLDN4: view

Pathways 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:0007165 signal transduction TAS 9334247
GO:0007565 female pregnancy IEA --
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
GO:0032570 response to progesterone IEA --
GO:0061436 establishment of skin barrier IMP 23407391
genes like me logo Genes that share ontologies with CLDN4: view

Compounds for CLDN4 Gene

(10) Novoseek inferred chemical compound relationships for CLDN4 Gene

Compound -log(P) Hits PubMed IDs
enterotoxin 72.7 15
dextran 46.8 2
ochratoxin a 27.7 2
dexamethasone 1.28 1
sodium 0 1
genes like me logo Genes that share compounds with CLDN4: view

Transcripts for CLDN4 Gene

Unigene Clusters for CLDN4 Gene

Claudin 4:
Representative Sequences:

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 (8.3), Minor Salivary Gland (7.0), and Esophagus - Mucosa (6.5).

Integrated Proteomics: protein expression 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 expressions with CLDN4: view

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 36
  • 99.2 (n)
  • 100 (a)
CLDN4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLDN4 36
  • 88.52 (n)
  • 88.04 (a)
CLDN4 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLDN4 36
  • 90.69 (n)
  • 91.37 (a)
CLDN4 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cldn4 36
  • 82.62 (n)
  • 83.73 (a)
Cldn4 16
Cldn4 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLDN4 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLDN4 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn4 36
  • 82.93 (n)
  • 83.73 (a)
chicken
(Gallus gallus)
Aves CLDN4 36
  • 76.24 (n)
  • 72.73 (a)
CLDN4 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLDN4 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6291 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
CLDN4 (3 of 7) 37
  • 59 (a)
OneToMany
cldna 37
  • 63 (a)
OneToMany
cldnb 36
  • 70.16 (n)
  • 67.54 (a)
cldnb 37
  • 65 (a)
OneToMany
cldnd 37
  • 65 (a)
OneToMany
cldne 37
  • 62 (a)
OneToMany
cldng 37
  • 58 (a)
OneToMany
CR847847.1 37
  • 64 (a)
OneToMany
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

Selected 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 MAF
rs8629 -- 73,831,189(+) TCCCG(C/T)GGACG utr-variant-5-prime
rs11316 -- 73,832,225(+) CTGTT(C/G)CGGGT utr-variant-3-prime
rs1127155 -- 73,832,131(+) AGGAT(A/G)GCTTA 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

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

Relevant External Links for CLDN4 Gene

HapMap Linkage Disequilibrium report
CLDN4

Disorders for CLDN4 Gene

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.

(2) University of Copenhagen DISEASES for CLDN4 Gene

(25) Novoseek inferred disease relationships for CLDN4 Gene

Disease -log(P) Hits PubMed IDs
ovarian cystadenoma 63.6 1
ovarian cancer 50 20
carcinoma papillary 46.2 2
adenocarcinoma 44.6 12
ovarian carcinoma 43.1 7
genes like me logo Genes that share disorders with CLDN4: view

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
  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 23
  3. Loss of the tight junction protein claudin 4 correlates with histological growth-pattern and differentiation in advanced gastric adenocarcinoma. (PMID: 15643498) Lee S.K. … Kang J.K. (Oncol. Rep. 2005) 3 23
  4. Claudin-1, -3 and -4 proteins and mRNA expression in benign and malignant breast lesions: a research study. (PMID: 15743508) TokAcs A.M. … Schaff Z. (Breast Cancer Res. 2005) 3 23
  5. Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. (PMID: 9878248) Paperna T. … Francke U. (Genomics 1998) 3 23

Products for CLDN4 Gene

Sources for CLDN4 Gene

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