CLDN22
Claudin-22: A Tight Junction Protein with Emerging Roles in Cancer and Barrier Function
Gene Information Card
| Symbol | CLDN22 |
|---|---|
| Full Name | claudin 22 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 53842 ncbi.nlm.nih.gov/gene/53842 |
| Ensembl ID | ENSG00000174738 |
| UniProt ID | Q8N7P3 |
| OMIM ID | 616584 |
| HGNC ID | 20377 |
| Aliases | CLDN22, claudin-22 |
Description
CLDN22 encodes claudin-22, 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. CLDN22 is expressed in various tissues and has been implicated in cancer progression and barrier dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may disrupt tight junctions, promoting invasion and metastasis. | NCBI Gene, COSMIC |
| Hereditary spastic paraplegia (potential) | Mutations in claudin genes can affect CNS barrier function. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 0.3 | Low |
| Liver | 0.2 | Low |
| Testis | 0.1 | Low |
| Brain | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| HeLa | 0.3 | Low expression |
| MCF7 | 0.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown |
| c.100C>T | missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of barrier integrity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Tight junction (KEGG: hsa04530)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
Claudin-22 is a 220-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. Expression is generally low in normal tissues but may be altered in disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN22 Knockout HEK293 Cell Line | EDJ-KQ51356 | Human | 53842 | Details Get a Quote |
| CLDN22 Knockout HeLa Cell Line | EDJ-KQ56387 | Human | 53842 | Details Get a Quote |
| CLDN22 Knockout A-549 Cell Line | EDJ-KQ64878 | Human | 53842 | Details Get a Quote |
| CLDN22 Knockout HCT 116 Cell Line | EDJ-KQ73322 | Human | 53842 | Details Get a Quote |
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