Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1365
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CLDN3   Gene   UCSC   Ensembl
Aliases C7orf1, CPE-R2, CPETR2, HRVP1, RVP1
Gene name claudin 3
Alternate names claudin-3, CPE-R 2, CPE-receptor 2, Clostridium perfringens enterotoxin receptor 2, ventral prostate.1 protein homolog, ventral prostate.1-like protein,
Gene location 7q11.23 (73770269: 73768996)     Exons: 1     NC_000007.14
Gene summary(Entrez) Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008]
OMIM 602910

Protein Summary

Protein general information O15551  

Name: Claudin 3 (Clostridium perfringens enterotoxin receptor 2) (CPE R 2) (CPE receptor 2) (Rat ventral prostate.1 protein homolog) (hRVP1)

Length: 220  Mass: 23,319

Sequence MSMGLEITGTALAVLGWLGTIVCCALPMWRVSAFIGSNIITSQNIWEGLWMNCVVQSTGQMQCKVYDSLLALPQD
LQAARALIVVAILLAAFGLLVALVGAQCTNCVQDDTAKAKITIVAGVLFLLAALLTLVPVSWSANTIIRDFYNPV
VPEAQKREMGAGLYVGWAAAALQLLGGALLCCSCPPREKKYTATKVVYSAPRSTGPGASLGTGYDRKDYV
Structural information
Interpro:  IPR006187 IPR003549 IPR017974 IPR004031
Prosite:   PS01346

Pfam:  
PF00822

DIP:  
61079
MINT:   5003820
STRING:   ENSP00000378577;
Other Databases GeneCards:  CLDN3;  Malacards:  CLDN3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001666 response to hypoxia
IEP biological_process
GO:0003382 epithelial cell morphogen
esis
ISS biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005198 structural molecule activ
ity
IEA molecular_function
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:0007165 signal transduction
IEA biological_process
GO:0016021 integral component of mem
brane
TAS 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
IEA biological_process
GO:0042802 identical protein binding
IEA molecular_function
GO:0051260 protein homooligomerizati
on
IMP biological_process
GO:0051291 protein heterooligomeriza
tion
IGI biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070830 bicellular tight junction
assembly
IMP biological_process
GO:0001666 response to hypoxia
IEP biological_process
GO:0003382 epithelial cell morphogen
esis
IEA biological_process
GO:0003382 epithelial cell morphogen
esis
ISS 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: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: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:0016021 integral component of mem
brane
TAS 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
IEA biological_process
GO:0030054 cell junction
IEA cellular_component
GO:0042802 identical protein binding
IEA molecular_function
GO:0051260 protein homooligomerizati
on
IMP biological_process
GO:0051291 protein heterooligomeriza
tion
IGI biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070830 bicellular tight junction
assembly
IMP biological_process
GO:0001666 response to hypoxia
IEP biological_process
GO:0003382 epithelial cell morphogen
esis
ISS biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
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:0016021 integral component of mem
brane
TAS cellular_component
GO:0051260 protein homooligomerizati
on
IMP biological_process
GO:0051291 protein heterooligomeriza
tion
IGI biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070830 bicellular tight junction
assembly
IMP biological_process

KEGG pathways

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

Diseases

Associated diseases References
Endometriosis PMID: 18850381
Endometriosis INFBASE18384777

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes 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