CLDN17
Claudin 17: A Tight Junction Protein with Potential Roles in Barrier Function and Cancer
Gene Information Card
| Symbol | CLDN17 |
|---|---|
| Full Name | Claudin 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.12 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000160223 |
| UniProt ID | P56750 |
| OMIM ID | 605351 |
| HGNC ID | 2040 |
| Aliases | FLJ20032 |
Description
CLDN17 (claudin 17) is a protein-coding gene located on chromosome 21q22.12. It encodes claudin 17, a member of the claudin family of tight junction proteins. Claudins are integral membrane proteins that form the paracellular barrier and regulate ion selectivity in epithelial and endothelial cell sheets. CLDN17 is specifically expressed in certain tissues and has been implicated in barrier function and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered CLDN17 expression may disrupt tight junctions, contributing to tumor progression and metastasis. | PubMed: 25792728 |
| Colorectal cancer | Downregulation of CLDN17 is associated with poor prognosis and may promote epithelial-mesenchymal transition. | PubMed: 28411376 |
| Breast cancer | CLDN17 expression changes correlate with invasive potential and patient survival. | PubMed: 29367639 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Liver | 8.7 | Low |
| Lung | 6.2 | Low |
| Colon | 4.5 | Low |
| Breast | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 10.5 | Hepatocellular carcinoma cell line |
| Caco-2 (colorectal) | 7.8 | Colorectal adenocarcinoma cell line |
| MCF7 (breast cancer) | 2.3 | Breast adenocarcinoma cell line |
| A549 (lung cancer) | 5.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.341G>A (p.Arg114Gln) | Missense | <0.1% | Reported in COSMIC; potential loss of function |
| c.424_425insA | Frameshift | <0.1% | Predicted loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in CLDN17 are predicted to result in loss of protein function, potentially disrupting tight junction integrity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CLDN17.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CLDN17.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Tight junction (KEGG: hsa04530)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
Claudin 17 is a 224-amino acid transmembrane protein with four transmembrane domains, two extracellular loops, and intracellular N- and C-termini. It localizes to tight junctions and contributes to paracellular barrier function. The protein is expressed in kidney, liver, and other epithelial tissues. Its expression is altered in several cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN17 Knockout HEK293 Cell Line | EDJ-KQ8504 | Human | 26285 | Details Get a Quote |
| CLDN17 Knockout HeLa Cell Line | EDJ-KQ55922 | Human | 26285 | Details Get a Quote |
| CLDN17 Knockout A-549 Cell Line | EDJ-KQ64412 | Human | 26285 | Details Get a Quote |
| CLDN17 Knockout HCT 116 Cell Line | EDJ-KQ72864 | Human | 26285 | Details Get a Quote |
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