CLDN24
Claudin 24, a tight junction protein involved in epithelial barrier function
Gene Information Card
| Symbol | CLDN24 |
|---|---|
| Full Name | Claudin 24 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 100507658 ncbi.nlm.nih.gov/gene/100507658 |
| Ensembl ID | ENSG00000205642 |
| UniProt ID | Q8N6P1 |
| OMIM ID | 617856 |
| HGNC ID | 40006 |
| Aliases | CLDN-24, claudin-24 |
Description
CLDN24 (Claudin 24) is a protein-coding gene that belongs to the claudin family of tight junction proteins. Claudins are integral membrane proteins that form the paracellular barrier in epithelial and endothelial cell sheets, controlling the flow of molecules between cells. CLDN24 is specifically expressed in certain epithelial tissues and is involved in maintaining barrier integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary deafness (non-syndromic) | CLDN24 mutations disrupt tight junctions in cochlear epithelial cells, impairing ion homeostasis and auditory function. | OMIM #617856; ClinVar |
| Cancer (various types) | Altered CLDN24 expression may affect epithelial barrier function and cell adhesion, contributing to tumor progression. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
| Testis | 0.3 | Not detected |
| Skin | 0.1 | Not detected |
| Lung | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.1 | Low expression |
| HeLa | 0.2 | Low expression |
| MCF7 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Likely loss of function |
| c.2T>C (p.Met1Thr) | missense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations in CLDN24 are predicted to cause loss of tight junction integrity, leading to barrier dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • bicellular tight junction (GO:0005923) | • lateral plasma membrane (GO:0016328) |
| • structural molecule activity (GO:0005198) | • bicellular tight junction assembly (GO:0070830) |
Pathways
• Tight junction pathway (KEGG: hsa04530)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
Claudin 24 is a 24 kDa transmembrane protein with four transmembrane domains, two extracellular loops, and intracellular N- and C-termini. It localizes to tight junctions and interacts with other claudins and scaffolding proteins to form paracellular barriers. Its expression is restricted to specific epithelial tissues, and mutations are associated with hereditary deafness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN24 Knockout HEK293 Cell Line | EDJ-KQ12930 | Human | 100132463 | Details Get a Quote |
| CLDN24 Knockout HeLa Cell Line | EDJ-KQ60833 | Human | 100132463 | Details Get a Quote |
| CLDN24 Knockout A-549 Cell Line | EDJ-KQ69304 | Human | 100132463 | Details Get a Quote |
| CLDN24 Knockout HCT 116 Cell Line | EDJ-KQ77659 | Human | 100132463 | Details Get a Quote |
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