Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1364
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CLDN4   Gene   UCSC   Ensembl
Aliases CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R
Gene name claudin 4
Alternate names claudin-4, CPE-receptor, Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein,
Gene location 7q11.23 (73830862: 73832692)     Exons: 1     NC_000007.14
Gene summary(Entrez) 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]
OMIM 602909

Protein Summary

Protein general information O14493  

Name: Claudin 4 (Clostridium perfringens enterotoxin receptor) (CPE R) (CPE receptor) (Williams Beuren syndrome chromosomal region 8 protein)

Length: 209  Mass: 22,077

Sequence MASMGLQVMGIALAVLGWLAVMLCCALPMWRVTAFIGSNIVTSQTIWEGLWMNCVVQSTGQMQCKVYDSLLALPQ
DLQAARALVIISIIVAALGVLLSVVGGKCTNCLEDESAKAKTMIVAGVVFLLAGLMVIVPVSWTAHNIIQDFYNP
LVASGQKREMGASLYVGWAASGLLLLGGGLLCCNCPPRTDKPYSAKYSAARSAAASNYV
Structural information
Interpro:  IPR006187 IPR003550 IPR017974 IPR004031
Prosite:   PS01346

Pfam:  
PF00822

PDB:  
5B2G
PDBsum:   5B2G
Other Databases GeneCards:  CLDN4;  Malacards:  CLDN4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005198 structural molecule activ
ity
IEA molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IMP cellular_component
GO:0005923 bicellular tight junction
ISS cellular_component
GO:0005923 bicellular tight junction
IDA cellular_component
GO:0007165 signal transduction
IEA biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0007623 circadian rhythm
IEA biological_process
GO:0009925 basal plasma membrane
IEA cellular_component
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0016327 apicolateral plasma membr
ane
IEA cellular_component
GO:0016328 lateral plasma membrane
IEA cellular_component
GO:0016338 calcium-independent cell-
cell adhesion via plasma
membrane cell-adhesion mo
lecules
ISS biological_process
GO:0032570 response to progesterone
IEA biological_process
GO:0042802 identical protein binding
ISS molecular_function
GO:0061436 establishment of skin bar
rier
IMP biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005198 structural molecule activ
ity
IEA molecular_function
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IMP cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005923 bicellular tight junction
IEA cellular_component
GO:0005923 bicellular tight junction
IEA cellular_component
GO:0005923 bicellular tight junction
ISS cellular_component
GO:0005923 bicellular tight junction
IEA cellular_component
GO:0005923 bicellular tight junction
IEA cellular_component
GO:0005923 bicellular tight junction
IDA cellular_component
GO:0007165 signal transduction
IEA biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0007623 circadian rhythm
IEA biological_process
GO:0009925 basal plasma membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0016327 apicolateral plasma membr
ane
IEA cellular_component
GO:0016328 lateral plasma membrane
IEA cellular_component
GO:0016338 calcium-independent cell-
cell adhesion via plasma
membrane cell-adhesion mo
lecules
ISS biological_process
GO:0030054 cell junction
IEA cellular_component
GO:0032570 response to progesterone
IEA biological_process
GO:0042802 identical protein binding
ISS molecular_function
GO:0061436 establishment of skin bar
rier
IMP biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IMP cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005923 bicellular tight junction
ISS cellular_component
GO:0005923 bicellular tight junction
IDA cellular_component
GO:0016338 calcium-independent cell-
cell adhesion via plasma
membrane cell-adhesion mo
lecules
ISS biological_process
GO:0042802 identical protein binding
ISS molecular_function
GO:0061436 establishment of skin bar
rier
IMP biological_process

KEGG pathways

hsa04514  Cell adhesion molecules
hsa05160  Hepatitis C
hsa04670  Leukocyte transendothelial migration
hsa04530  Tight junction

Diseases

Associated diseases References
Endometrial cancer PMID: 26043767
Endometriosis PMID: 26148093
Endometriosis INFBASE18850381
Endometriosis INFBASE18384777
Williams-Beuren syndrome KEGG: H01439

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19035134 Endometrio
sis

70 (35 women wi
th endometriosi
s, 35 controls)
claudin-4
Show abstract
18850381 Endometrio
sis


claudin-3
claudin-4
claudin-7
claudin-5
Show abstract
18384777 Endometrio
sis

70 (35 patients
with endometri
osis, 35 health
y women who wer
e free of endom
etriosis)
claudin-3
claudin-4
Show abstract
23668053 Endometrio
sis

86 (36 women wi
th idiopathic i
nfertility, 24
with minimal en
dometriosis, 26
controls)
Female infertility
Show abstract