CLDN4 (Claudin-4)
2005-10-01 Stefanie Ripka , Thomas M Gress AffiliationAbteilung Innere Medizin I, Universitâtsklinikum Ulm, Robert Koch Str.8, 89081 Ulm, Germany
Identity
HGNC
LOCATION
7q11.23
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
CPE-R,CPER,CPETR,CPETR1,WBSCR8,hCPE-R
FUSION GENES
DNA/RNA
Description
intronless; one exon spanning 1.68 kb
Transcription
one transcript of 1.68kb with 630 bp of coding sequence
Proteins
Description
The CLDN4 protein contains 209 amino acids and has a molecular weight of 22.1 kDa with four putative transmembrane segments. It directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3.
Expression
Claudin-4 is expressed in many fetal and adult tissues, predominantly in lung, intestine and kidney. Overexpressed in pancreatic, breast, ovarian, and prostate cancer.
Localisation
Integral membrane protein. Tight junction component.
Function
CLDN4 plays a major role in tight junction-specific obliteration of the intercellular space.
Homology
Belongs to the claudin family.
Implicated in
Entity name
Williams-Beuren syndrom
Disease
Williams-Beuren syndrom (WBS) includes supravalvular aortic stenosis (SVAS), multiple peripheral pulmonary arterial stenoses, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia. It is associated with an autosomal dominant contiguous gene deletion involving genes from chromosome band 7q11.23, including CLDN4, elastin and LIM-kinase1. Haploinsufficiency for CLDN4 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the context of this disease.
Entity name
Gastric cancer
Oncogenesis
Downregulated in gastric cancer. Absence of CLDN4 may play a role in the disruption of cell-to-cell adhesion in diffuse type gastric cancer and in a loss of differentiation.
Entity name
pancreatic cancer
Disease
.
Oncogenesis
Overexpressed in pancreatic cancer. Overexpression is predominantly observed in well-differentiated tumors with decreased metastatic potential
Entity name
Breast cancer
Oncogenesis
Overexpressed in breast cancer and Pagets disease. Significance unclear.
Entity name
Ovarian cancer
Oncogenesis
CLDN4 is upregulated in ovarian tumors and cell lines and may represent a novel marker for this disease.
Entity name
Squamous cell carcinoma and Bowens disease
Oncogenesis
Expression of claudin-4 is associated with keratinization in SCC and BD.
Entity name
Prostate cancer
Oncogenesis
Overexpressed in prostate cancer ephitelium. Significance unclear
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15643498 | 2005 | Loss of the tight junction protein claudin 4 correlates with histological growth-pattern and differentiation in advanced gastric adenocarcinoma. | Lee SK et al |
| 11691807 | 2001 | Expression of Clostridium perfringens enterotoxin receptors claudin-3 and claudin-4 in prostate cancer epithelium. | Long H et al |
| 14559813 | 2003 | Claudin-4 expression decreases invasiveness and metastatic potential of pancreatic cancer. | Michl P et al |
| 9892664 | 1999 | Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands. | Morita K et al |
| 15327539 | 2004 | Tight junction-associated proteins (occludin, ZO-1, claudin-1, claudin-4) in squamous cell carcinoma and Bowen's disease. | Morita K et al |
| 14983936 | 2004 | Claudin 4 protein expression in primary and metastatic pancreatic cancer: support for use as a therapeutic target. | Nichols LS et al |
| 9878248 | 1998 | Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. | Paperna T et al |
| 15619213 | 2004 | Claudins 2, 3, 4, and 5 in Paget's disease and breast carcinoma. | Soini Y et al |
| 15743508 | 2005 | Claudin-1, -3 and -4 proteins and mRNA expression in benign and malignant breast lesions: a research study. | Tokés AM et al |
Other Information
Locus ID:
NCBI: 1364
MIM: 602909
HGNC: 2046
Ensembl: ENSG00000189143
Variants:
dbSNP: 1364
ClinVar: 1364
TCGA: ENSG00000189143
COSMIC: CLDN4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38415551 | 2024 | Immunohistochemical Expression of Claudin-1 and Claudin-4 in Urothelial Carcinoma of the Urinary Bladder. | 0 |
| 38415551 | 2024 | Immunohistochemical Expression of Claudin-1 and Claudin-4 in Urothelial Carcinoma of the Urinary Bladder. | 0 |
| 35512220 | 2023 | BAP1 and Claudin-4, But Not MTAP, Reliably Distinguish Borderline and Low-grade Serous Ovarian Tumors From Peritoneal Mesothelioma. | 2 |
| 37057131 | 2023 | CLDN4 as a Novel Diagnostic and Prognostic Biomarker and Its Association with Immune Infiltrates in Ovarian Cancer. | 2 |
| 37153991 | 2023 | [Effects of Fusobacterium nucleus derived outer membrane vesicles on claudin-4 expression in oral epithelial cells]. | 0 |
| 37331346 | 2023 | Diagnostic Utility of Claudin4 and Comparison with BerEp4 as a Marker for Metastatic Adenocarcinoma in Serous Effusions. | 0 |
| 38384059 | 2023 | Expression of Claudin-4 and D2-40 and their significance in prostatic adenocarcinoma. | 0 |
| 35512220 | 2023 | BAP1 and Claudin-4, But Not MTAP, Reliably Distinguish Borderline and Low-grade Serous Ovarian Tumors From Peritoneal Mesothelioma. | 2 |
| 37057131 | 2023 | CLDN4 as a Novel Diagnostic and Prognostic Biomarker and Its Association with Immune Infiltrates in Ovarian Cancer. | 2 |
| 37153991 | 2023 | [Effects of Fusobacterium nucleus derived outer membrane vesicles on claudin-4 expression in oral epithelial cells]. | 0 |
| 37331346 | 2023 | Diagnostic Utility of Claudin4 and Comparison with BerEp4 as a Marker for Metastatic Adenocarcinoma in Serous Effusions. | 0 |
| 38384059 | 2023 | Expression of Claudin-4 and D2-40 and their significance in prostatic adenocarcinoma. | 0 |
| 35418179 | 2022 | TGF-β induces GBM mesenchymal transition through upregulation of CLDN4 and nuclear translocation to activate TNF-α/NF-κB signal pathway. | 24 |
| 35760010 | 2022 | CLDN4 promotes growth of acute myeloid leukemia cells via regulating AKT and ERK1/2 signaling. | 3 |
| 35811406 | 2022 | Computational study of ion permeation through claudin-4 paracellular channels. | 8 |
Citation
Stefanie Ripka ; Thomas M Gress
CLDN4 (Claudin-4)
Atlas Genet Cytogenet Oncol Haematol. 2005-10-01
Online version: http://atlasgeneticsoncology.org/gene/42975/cldn4
