Gene Gene information from NCBI Gene database.
Entrez ID 1364
Gene name Claudin 4
Gene symbol CLDN4
Synonyms (NCBI Gene)
CPE-RCPERCPETRCPETR1WBSCR8hCPE-R
Chromosome 7
Chromosome location 7q11.23
Summary 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.
275
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
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 IEA
GO:0005515 Function Protein binding IPI 27647526, 32296183
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602909 2046 ENSG00000189143
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, DUCTAL, BREAST CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 27466164
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 16287068, 17647191, 19390931, 21102412, 23385421, 30354850, 31390089
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17418912
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25935651, 30329165
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 17291259
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15693851, 21102412
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 15753385
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 30899365
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma Pubtator 31473941 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 21837532, 28099249, 28842811, 30171177
★☆☆☆☆
Found in Text Mining only