CLDN10 Gene: Claudin 10
Tight junction protein involved in paracellular ion transport and associated with HELIX syndrome and hypomagnesemia
Gene Information Card
| Symbol | CLDN10 |
|---|---|
| Full Name | Claudin 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q32.1 |
| NCBI Gene ID | 9071 ncbi.nlm.nih.gov/gene/9071 |
| Ensembl ID | ENSG00000134873 |
| UniProt ID | P78369 |
| OMIM ID | 617579 |
| HGNC ID | 2035 |
| Aliases | CPETR2, HELIX, OSP-L, claudin-10 |
Description
CLDN10 encodes claudin 10, a member of the claudin family of tight junction proteins. Claudin 10 is essential for paracellular ion selectivity, particularly in the kidney and inner ear. It forms paracellular channels that regulate sodium and magnesium reabsorption. Mutations in CLDN10 cause HELIX syndrome (hypohidrosis, electrolyte imbalance, lacrimal dysfunction, ichthyosis, xerostomia) and familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HELIX syndrome | Loss-of-function mutations disrupt tight junction integrity in sweat glands, lacrimal glands, salivary glands, and kidney, leading to hypohidrosis, electrolyte imbalance, and xerostomia. | OMIM #617579; ClinVar |
| Hypomagnesemia 2, renal | Impaired paracellular magnesium reabsorption in the thick ascending limb of Henle due to defective claudin-10 channels. | OMIM #617579; NCBI Gene |
| Nephrocalcinosis | Dysregulated calcium and magnesium handling in the kidney leads to calcium deposition. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Salivary gland | 38.1 | High |
| Lacrimal gland | 35.7 | High |
| Sweat gland | 30.5 | High |
| Liver | 12.3 | Medium |
| Pancreas | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | High expression in transfected cells |
| HK-2 (kidney proximal tubule) | 18.7 | Endogenous expression |
| HaCaT (keratinocyte) | 15.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53*) | Nonsense | Rare | Loss of function; associated with HELIX syndrome |
| c.200G>A (p.Gly67Asp) | Missense | Rare | Impaired trafficking to tight junctions |
| c.487C>T (p.Arg163Trp) | Missense | Rare | Disrupted ion selectivity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair protein expression or localization, leading to defective paracellular ion transport.
Gain of Function (GOF)
Not reported for CLDN10.
Dominant Negative (DN)
Some missense variants may interfere with wild-type claudin-10 assembly, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • bicellular tight junction (GO:0005923) | • lateral plasma membrane (GO:0016328) |
| • chloride channel activity (GO:0005254) | • lung development (GO:0030324) |
| • divalent metal ion transport (GO:0070838) |
Pathways
• Tight junction pathway (KEGG: hsa04530)
• Paracellular ion transport
Protein Summary
Claudin 10 is a 228-amino acid transmembrane protein with four transmembrane domains, two extracellular loops, and intracellular N- and C-termini. It localizes to tight junctions and forms paracellular channels selective for cations, particularly sodium and magnesium. Alternative splicing produces isoforms with distinct ion selectivity. The protein is highly expressed in kidney, salivary glands, lacrimal glands, and sweat glands, consistent with its role in fluid and electrolyte homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN10 Knockout HEK293 Cell Line | EDJ-KQ6453 | Human | 9071 | Details Get a Quote |
| CLDN10 Knockout HeLa Cell Line | EDJ-KQ55071 | Human | 9071 | Details Get a Quote |
| CLDN10 Knockout A-549 Cell Line | EDJ-KQ63552 | Human | 9071 | Details Get a Quote |
| CLDN10 Knockout HCT 116 Cell Line | EDJ-KQ72020 | Human | 9071 | Details Get a Quote |
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