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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CLDN25
claudin 25
Chromosome 11 Β· 11q23.2
NCBI Gene: 644672Ensembl: ENSG00000228607.3HGNC: HGNC:37218UniProt: C9JDP6
7PubMed Papers
13Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
tight junctionplasma membranebicellular tight junctionmembraneagingAbruptio Placentaeatrial fibrillationrisk-taking behaviour
✦AI Summary

CLDN25 (claudin 25) is a tight junction protein that contributes to the regulation of intercellular barrier function through calcium-independent cell-adhesion activity [UniProt]. Unlike canonical claudins, CLDN25 does not contain the conserved C-terminal ZO-1 binding motif but requires its C-terminal region for proper junctional localization in a ZO-1-independent manner 1. At the blood-brain barrier, CLDN25 is highly expressed in vivo alongside other claudins but functions distinctly: rather than tightening the paracellular barrier, it contributes to proper tight junction strand morphology 2. Intriguingly, cellular knockout of CLDN25 increases tight junction integrity while paradoxically driving increased solute movement between cells, suggesting a "decoy claudin" mechanism that modulates dynamic changes in cell-cell adhesion capacity 1. Clinical significance: A de novo heterozygous missense variant (c.745G>C, p.A249P) in CLDN25 was identified in a patient with Pelizaeus-Merzbacher-like leukodystrophy presenting with delayed motor development, seizures, and dystonia 1. This mutation prevents proper junctional localization and likely causes haploinsufficiency. Additionally, CLDN25 variants have been associated with diabetic retinopathy risk in machine learning prediction models 3, suggesting broader relevance to vascular barrier dysfunction.

Sources cited
1
CLDN25 mutation causes Pelizaeus-Merzbacher-like leukodystrophy; C-terminal region required for junctional localization independent of ZO-1; cellular knockout increases TJ integrity while increasing solute movement; suggests decoy claudin mechanism
PMID: 38493358
2
CLDN25 is highly expressed at blood-brain barrier in vivo; contributes to proper TJ strand morphology but does not tighten paracellular barrier
PMID: 30734065
3
CLDN25 variant (rs201922794) identified in whole-exome sequencing of diabetic retinopathy pedigree; associated with DR risk prediction
PMID: 39924156
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜13
agingOpen Targets
0.07Suggestive
Abruptio PlacentaeOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
risk-taking behaviourOpen Targets
0.05Suggestive
neuropathyOpen Targets
0.05Suggestive
liver diseaseOpen Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.02Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
dermatomycosisOpen Targets
0.02Suggestive
dermatophytosisOpen Targets
0.02Suggestive
Duane retraction syndromeOpen Targets
0.00Suggestive
leukodystrophyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TJP1Protein interaction98%OCLNProtein interaction96%CLDN15Protein interaction81%CLDN20Protein interaction81%CLDN11Protein interaction79%CLDN10Protein interaction79%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CLDN25TJP1OCLNCLDN15CLDN20CLDN11CLDN10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt C9JDP6
View on AlphaFold β†—
RankingsWhere CLDN25 stands among ~20K protein-coding genes
  • #17,803of 20,598
    Most Researched7
Genes detectedCLDN25
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.
PMID: 38493358
Hum Mol Genet Β· 2024
1.00
2
Tight junction proteins at the blood-brain barrier: far more than claudin-5.
PMID: 30734065
Cell Mol Life Sci Β· 2019
0.75
3
Predicting Diabetic Retinopathy Using a Machine Learning Approach Informed by Whole-Exome Sequencing Studies.
PMID: 39924156
Biomed Environ Sci Β· 2025
0.50
4
Claudin-1 Binder Enhances Epidermal Permeability in a Human Keratinocyte Model.
PMID: 26139628
J Pharmacol Exp Ther Β· 2015
0.25