Homo sapiens Gene: CLDN4
Summary
InnateDB Gene IDBG-20463.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLDN4
Gene Name claudin 4
Synonyms CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8;
Species Homo sapiens
Ensembl Gene ENSG00000189143
Encoded Proteins
claudin 4
claudin 4
claudin 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands 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, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:73799542-73832693
Strand Forward strand
Band q11.23
Transcripts
ENST00000340958 ENSP00000342445
ENST00000435050 ENSP00000409544
ENST00000431918 ENSP00000388639
ENST00000466411
ENST00000476494
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0007165 signal transduction
GO:0007565 female pregnancy
GO:0016338 calcium-independent cell-cell adhesion
GO:0032570 response to progesterone
GO:0061436 establishment of skin barrier
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005923 tight junction
GO:0009925 basal plasma membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016327 apicolateral plasma membrane
GO:0016328 lateral plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Tight junction interactions pathway
Cell-Cell communication pathway
Cell junction organization pathway
Cell-cell junction organization pathway
KEGG
Cell adhesion molecules (CAMs) pathway
Tight junction pathway
Leukocyte transendothelial migration pathway
Hepatitis C pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.647036 Hs.700297 Hs.729359
RefSeq NM_001305
HUGO
OMIM
CCDS CCDS5560
HPRD 04218
IMGT
EMBL
GenPept
RNA Seq Atlas