CLDN14: Claudin 14 Gene
Tight junction protein implicated in hereditary deafness and kidney function
Gene Information Card
| Symbol | CLDN14 |
|---|---|
| Full Name | Claudin 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.13 |
| NCBI Gene ID | 23562 ncbi.nlm.nih.gov/gene/23562 |
| Ensembl ID | ENSG00000159261 |
| UniProt ID | O95500 |
| OMIM ID | 605608 |
| HGNC ID | 2038 |
| Aliases | DFNB29, claudin-14 |
Description
CLDN14 encodes claudin 14, a member of the claudin family of tight junction proteins. Claudin 14 is essential for maintaining paracellular barriers in inner ear hair cells and renal epithelia. Loss-of-function mutations cause autosomal recessive nonsyndromic hearing loss (DFNB29) and are associated with hypercalciuria and kidney stone formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nonsyndromic hearing loss (DFNB29) | Loss of claudin 14 disrupts tight junctions in cochlear hair cells, impairing ion homeostasis and mechanotransduction. | ClinVar, OMIM |
| Hypercalciuria / kidney stones | CLDN14 variants alter paracellular calcium reabsorption in renal tubules, leading to increased urinary calcium excretion. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Cochlea (inner ear) | High (RNA-seq) | High |
| Liver | 1.2 | Low |
| Lung | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| HepG2 | 1.1 | Low expression |
| Renal proximal tubule cells | 15.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.254T>A (p.Val85Asp) | Missense | Rare | Loss of function; associated with DFNB29 |
| c.488C>T (p.Thr163Ile) | Missense | Rare | Loss of function; hearing loss |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; hearing loss |
| c.397G>A (p.Gly133Arg) | Missense | Rare | Loss of function; kidney stones |
Mutation functional classification
Loss of Function (LOF)
Most CLDN14 mutations are loss-of-function, leading to defective tight junctions in inner ear and kidney.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • bicellular tight junction (GO:0005923) | • structural molecule activity (GO:0005198) |
| • lateral plasma membrane (GO:0016328) | • embryonic limb morphogenesis (GO:0030326) |
| • intestinal absorption (GO:0050892) | • divalent metal ion transport (GO:0070838) |
Pathways
• Tight junction (KEGG: hsa04530)
• Cell junction organization (Reactome: R-HSA-446728)
Protein Summary
Claudin 14 is a 239-amino acid transmembrane protein with four helical domains, two extracellular loops, and intracellular N- and C-termini. It polymerizes into tight junction strands that regulate paracellular ion permeability, particularly for calcium and magnesium. In the inner ear, it is critical for maintaining the endocochlear potential; in the kidney, it modulates calcium reabsorption in the thick ascending limb of Henle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN14 Knockout HEK293 Cell Line | EDJ-KQ8073 | Human | 23562 | Details Get a Quote |
| CLDN14 Knockout HeLa Cell Line | EDJ-KQ55770 | Human | 23562 | Details Get a Quote |
| CLDN14 Knockout A-549 Cell Line | EDJ-KQ64265 | Human | 23562 | Details Get a Quote |
| CLDN14 Knockout HCT 116 Cell Line | EDJ-KQ72712 | Human | 23562 | Details Get a Quote |
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