InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-20465

claudin 4

IDBP-377874

claudin 4

IDBP-377877

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

ENSMUSG00000047501

View Gene Order

ENSBTAG00000026278

Not yet available

Pathways

NETPATH

REACTOME

REACT_19373

Tight junction interactions pathway

REACT_111155

Cell-Cell communication pathway

REACT_20676

Cell junction organization pathway

REACT_19331

Cell-cell junction organization pathway

KEGG

hsa04514

Cell adhesion molecules (CAMs) pathway

hsa04670

Leukocyte transendothelial migration pathway

hsa04530

Tight junction pathway

hsa05160

Hepatitis C pathway

INOH

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