CLDN3 Gene - Claudin 3
Tight junction protein and potential tumor biomarker
Gene Information Card
| Symbol | CLDN3 |
|---|---|
| Full Name | Claudin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 1365 ncbi.nlm.nih.gov/gene/1365 |
| Ensembl ID | ENSG00000165215 |
| UniProt ID | O15551 |
| OMIM ID | 602910 |
| HGNC ID | 2045 |
| Aliases | CPETR2, C7orf1, HRVP1, RVP1 |
Description
CLDN3 encodes claudin 3, a member of the claudin family of integral membrane proteins that form tight junction strands. Claudin 3 functions as a major component of paracellular barriers, regulating ion and solute transport across epithelial and endothelial sheets. It is also a receptor for Clostridium perfringens enterotoxin (CPE) and is frequently overexpressed in various cancers, particularly ovarian and breast carcinomas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian carcinoma | Overexpression of CLDN3 disrupts tight junctions, contributing to increased cell proliferation and invasion. | PMID: 15930295; NCBI Gene |
| Breast cancer | CLDN3 is upregulated in breast cancer tissues and associated with poor prognosis. | PMID: 17975017; NCBI Gene |
| Clostridium perfringens enterotoxin-induced cytotoxicity | CLDN3 serves as a high-affinity receptor for CPE, leading to cell death upon toxin binding. | PMID: 11389701; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Breast | 7.3 | Medium |
| Ovary | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| OVCAR-3 (ovarian cancer) | 18.7 | High expression |
| HeLa (cervical cancer) | 9.4 | Medium expression |
| HepG2 (liver cancer) | 11.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Reported in COSMIC; functional impact unknown |
| c.331G>A (p.Gly111Arg) | Missense | <0.1% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Gly111Arg may disrupt tight junction assembly, reducing barrier integrity.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as a gain-of-function by promoting invasion.
Dominant Negative (DN)
No dominant-negative mutations reported for CLDN3.
View complete mutation data：
Gene Ontology (GO)
| • tight junction | • cell-cell junction |
| • protein binding | • identical protein binding |
| • calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules |
Pathways
• Tight junction (KEGG: hsa04530)
• Clostridium perfringens enterotoxin pathway
Protein Summary
Claudin 3 is a 220-amino acid transmembrane protein with four hydrophobic domains, two extracellular loops, and intracellular N- and C-termini. It localizes to tight junctions and interacts with other claudins to form paracellular barriers. The second extracellular loop serves as the binding site for Clostridium perfringens enterotoxin. Post-translational modifications include palmitoylation and phosphorylation, which regulate its stability and localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN3 Knockout HEK293 Cell Line | EDJ-KQ12207 | Human | 1365 | Details Get a Quote |
| CLDN34 Knockout HEK293 Cell Line | EDJ-KQ12932 | Human | 100288814 | Details Get a Quote |
| CLDN3 Knockout A-549 Cell Line | EDJ-KQ40941 | Human | 1365 | Details Get a Quote |
| CLDN3 Knockout HCT 116 Cell Line | EDJ-KQ40942 | Human | 1365 | Details Get a Quote |
| CLDN3 Knockout HeLa Cell Line | EDJ-KQ40943 | Human | 1365 | Details Get a Quote |
| CLDN34 Knockout HeLa Cell Line | EDJ-KQ60879 | Human | 100288814 | Details Get a Quote |
| CLDN34 Knockout A-549 Cell Line | EDJ-KQ69352 | Human | 100288814 | Details Get a Quote |
| CLDN34 Knockout HCT 116 Cell Line | EDJ-KQ77706 | Human | 100288814 | Details Get a Quote |
