CLDN7 Gene - Claudin 7
Tight junction protein involved in epithelial barrier function and cancer
Gene Information Card
| Symbol | CLDN7 |
|---|---|
| Full Name | Claudin 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 1366 ncbi.nlm.nih.gov/gene/1366 |
| Ensembl ID | ENSG00000181885 |
| UniProt ID | O95471 |
| OMIM ID | 603199 |
| HGNC ID | 2050 |
| Aliases | CPETRL3, HsT18827, claudin-7 |
Description
CLDN7 encodes claudin 7, a member of the claudin family of tight junction proteins. Claudin 7 is a transmembrane protein essential for maintaining epithelial barrier integrity, regulating paracellular permeability, and participating in cell signaling. It is expressed in various epithelial tissues and is frequently dysregulated in cancers, where it can act as either a tumor suppressor or oncogene depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of CLDN7 expression disrupts tight junctions, increasing paracellular permeability and promoting invasion | PMID: 21947068 |
| Breast cancer | CLDN7 downregulation correlates with epithelial-mesenchymal transition (EMT) and poor prognosis | PMID: 23361059 |
| Gastric cancer | Reduced CLDN7 expression associated with tumor progression and metastasis | PMID: 20013877 |
| Pancreatic cancer | CLDN7 overexpression linked to enhanced cell migration and invasion | PMID: 25978477 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 52.3 | High |
| Colon | 48.7 | High |
| Lung | 35.1 | Medium |
| Breast | 22.4 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 62.1 | Colorectal adenocarcinoma cell line |
| MCF-7 | 28.5 | Breast cancer cell line |
| A549 | 18.3 | Lung carcinoma cell line |
| HeLa | 12.7 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Thr67Met) | Missense | <0.1% | Altered protein stability; reported in COSMIC |
| c.334G>A (p.Gly112Arg) | Missense | <0.1% | Potential impact on tight junction assembly |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in transmembrane domains may disrupt tight junction integrity and barrier function.
Gain of Function (GOF)
Overexpression in certain cancers suggests potential gain-of-function effects promoting cell migration.
Dominant Negative (DN)
Truncating or missense mutations could interfere with wild-type claudin-7 assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • bicellular tight junction (GO:0005923) | • lateral plasma membrane (GO:0016328) |
| • structural molecule activity (GO:0005198) | • cell junction (GO:0030054) |
| • cell adhesion (GO:0007155) |
Pathways
• Tight junction (KEGG: hsa04530)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
Claudin-7 is a 211-amino-acid transmembrane protein with four transmembrane domains, two extracellular loops, and intracellular N- and C-termini. It localizes to tight junctions in epithelial cells, where it interacts with other claudins and scaffolding proteins such as ZO-1. Post-translational modifications include palmitoylation, which influences membrane localization. The protein is critical for paracellular ion selectivity and barrier maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN7 Knockout HEK293 Cell Line | EDJ-KQ4330 | Human | 1366 | Details Get a Quote |
| CLDN7 Knockout A-549 Cell Line | EDJ-KQ26830 | Human | 1366 | Details Get a Quote |
| CLDN7 Knockout HCT 116 Cell Line | EDJ-KQ26831 | Human | 1366 | Details Get a Quote |
| CLDN7 Knockout HeLa Cell Line | EDJ-KQ26832 | Human | 1366 | Details Get a Quote |
