Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1364
Gene name Gene Name - the full gene name approved by the HGNC.
Claudin 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLDN4
Synonyms (NCBI Gene) Gene synonyms aliases
CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017395 hsa-miR-335-5p Microarray 18185580
MIRT051675 hsa-let-7e-5p CLASH 23622248
MIRT895415 hsa-miR-124 CLIP-seq
MIRT895416 hsa-miR-1252 CLIP-seq
MIRT895417 hsa-miR-1254 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity TAS 9334247
GO:0005198 Function Structural molecule activity IEA
GO:0005254 Function Chloride channel activity ISS
GO:0005515 Function Protein binding IPI 27647526, 32296183
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602909 2046 ENSG00000189143
Protein
UniProt ID O14493
Protein name Claudin-4 (Clostridium perfringens enterotoxin receptor) (CPE-R) (CPE-receptor) (Williams-Beuren syndrome chromosomal region 8 protein)
Protein function Can associate with other claudins to regulate tight junction structural and functional strand dynamics (PubMed:35773259, PubMed:36008380). May coassemble with CLDN8 into tight junction strands containing anion-selective channels that convey para
PDB 5B2G , 7KP4 , 7TDM , 7TDN , 8U4V , 8U5B , 9CMH , 9CMI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 4 181 PMP-22/EMP/MP20/Claudin family Family
Sequence
Sequence length 209
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
19142967
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
19142967
Marfan syndrome Mammary Ductal Carcinoma, Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
19142967
Associations from Text Mining
Disease Name Relationship Type References
Acute Disease Stimulate 18711353
Adenocarcinoma Inhibit 17585317
Adenocarcinoma Associate 21102412, 27687058, 36037134, 38384059
Ameloblastoma Associate 31473941
Ascites Associate 21541062
Bile Duct Neoplasms Associate 18854598
Biliary Tract Neoplasms Associate 16439986, 18854598
Bloom Syndrome Inhibit 36293204
Breast Carcinoma In Situ Associate 18954444
Breast Neoplasms Associate 15743508, 18752049, 20086175, 21883696, 22464177, 25417118, 25871476, 26919310, 36412441, 36412442, 36691073, 37059993, 37465316