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Gene : CLDN4 Homo sapiens

Name  ? claudin 4 Cytological Location  7q11.23
Brief Description  claudin 4
Description  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]
  • synonyms:
  • hCPE-R,
  • NM_001305,
  • AB000712,
  • CLDN4,
  • WBSCR8,
  • OTTHUMG00000023425,
  • Clostridium perfringens enterotoxin receptor 1,
  • CPE-R,
  • Williams-Beuren syndrome chromosomal region 8 protein,
  • WBSCR8,
  • hCPE-R,
  • CPETR,
  • CPETR1,
  • CPETR,
  • uc003tzh.2,
  • CPE-R,
  • CPER,
  • CPETR1,
  • HGNC:2046
  • identifiers:
  • 1364,
  • ENSG00000189143,
  • CLDN4

Genome feature

Region: gene ? Length: 1831  
Location: 7:73830863-73832693 Cyto location: 7q11.23

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

16 Data Sets

16 Homologues

0 Located Features

97 Rna Seq Results