HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CLDN1
claudin 1
Chromosome 3 Β· 3q28
NCBI Gene: 9076Ensembl: ENSG00000163347.6HGNC: HGNC:2032UniProt: A5JSJ9
287PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complexbasolateral plasma membranecell-cell junction organizationbicellular tight junction assemblyneonatal ichthyosis-sclerosing cholangitis syndromedengue diseaseneurodegenerative diseaseAbruptio Placentae
✦AI Summary

CLDN1 (claudin 1) is a tight junction protein with dual roles in barrier function and disease pathology. Primarily, CLDN1 localizes to cell-cell junctions and regulates paracellular permeability in epithelial and endothelial tissues 1. CLDN1 serves as a co-receptor for hepatitis C virus entry, functioning through a complex with CD81 2, and acts as a receptor for dengue virus 3. In disease contexts, CLDN1 dysregulation drives pathogenic mechanisms across multiple conditions. In colorectal cancer, CLDN1 interacts with EPHA2 tyrosine kinase to promote cancer stemness and chemoresistance through enhanced AKT signaling and CD44 expression 4. LIN28B-mediated upregulation of CLDN1 enhances collective invasion and metastatic liver tumor formation via NOTCH3 activation 5. In primary sclerosing cholangitis, elevated CLDN1 expression correlates with disease progression and pro-inflammatory/pro-fibrotic signaling; CLDN1-specific monoclonal antibodies reduce hepatobiliary fibrosis and cholestasis in mouse models 6. CLDN1 dysregulation also disrupts coronary microvascular integrity, increasing permeability and causing inflammation and fibrosis that impairs cardiac function 7. Clinically, CLDN1 emerges as a therapeutic target. Combined CLDN1, KRT19, and TIMP1 expression analysis shows 85.4% accuracy for thyroid cancer diagnosis 8, while monoclonal antibody targeting shows promise for PSC treatment.

Sources cited
1
CLDN1 acts as HCV co-receptor, associates with CD81, and CLDN1-CD81 complex is essential for HCV entry
PMID: 20375010
2
CLDN1 acts as a receptor for dengue virus
PMID: 24074594
3
CLDN1 promotes cancer stemness and chemoresistance in colorectal cancer through interaction with EPHA2 tyrosine kinase
PMID: 37924938
4
LIN28B-mediated CLDN1 expression enhances collective invasion and liver metastasis via NOTCH3 signaling
PMID: 37318881
5
CLDN1 is upregulated in primary sclerosing cholangitis, correlates with disease progression, and CLDN1-specific monoclonal antibodies reduce fibrosis and cholestasis in mouse models
PMID: 40846184
6
CLDN1 dysregulation disrupts coronary microvascular barrier integrity, increasing permeability, inflammation, and fibrosis with impaired cardiac function
PMID: 40068507
7
CLDN1 dysregulation is associated with thyroid cancer and can serve as a biomarker panel component for diagnosis
PMID: 35679711
8
Claudins regulate paracellular permeability of epithelia and localize to tight junctions
PMID: 18480174
Disease Associationsβ“˜21
neonatal ichthyosis-sclerosing cholangitis syndromeOpen Targets
0.76Strong
dengue diseaseOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
colorectal carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
Chronic Obstructive AsthmaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
triple-negative breast cancerOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
cancerOpen Targets
0.10Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
psoriasisOpen Targets
0.09Suggestive
papillary thyroid carcinomaOpen Targets
0.09Suggestive
infectionOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.09Suggestive
cervical cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
cervical adenocarcinomaOpen Targets
0.08Suggestive
Ichthyosis-sclerosing cholangitis neonatal syndromeUniProt
Pathogenic Variants8
NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2018β†’ Residue 64
NM_021101.5(CLDN1):c.453_460dup (p.Pro154delinsLeuTer)Likely pathogenic
Neonatal ichthyosis-sclerosing cholangitis syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 154
NM_021101.5(CLDN1):c.53G>A (p.Trp18Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 18
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter)Pathogenic
Neonatal ichthyosis-sclerosing cholangitis syndrome
β˜…β˜†β˜†β˜†2019β†’ Residue 47
NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter)Likely pathogenic
Neonatal ichthyosis-sclerosing cholangitis syndrome
β˜…β˜†β˜†β˜†β†’ Residue 7
NM_021101.5(CLDN1):c.89G>A (p.Trp30Ter)Pathogenic
Neonatal ichthyosis-sclerosing cholangitis syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 30
NM_021101.5(CLDN1):c.358del (p.Val120fs)Pathogenic
Neonatal ichthyosis-sclerosing cholangitis syndrome
β˜†β˜†β˜†β˜†2006β†’ Residue 120
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer)Pathogenic
Neonatal ichthyosis-sclerosing cholangitis syndrome
β˜†β˜†β˜†β˜†2004β†’ Residue 66
View on ClinVar β†—
Related Genes
CTNNB1Protein interaction100%MARVELD2Protein interaction99%SCARB1Protein interaction93%CD81Protein interaction93%EPHA2Protein interaction93%F11RProtein interaction92%
Tissue Expression6 tissues
Liver
100%
Ovary
3%
Lung
2%
Bone Marrow
1%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
CLDN1CTNNB1MARVELD2SCARB1CD81EPHA2F11R
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95832
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.52 [0.33–0.84]
RankingsWhere CLDN1 stands among ~20K protein-coding genes
  • #1,245of 20,598
    Most Researched287 Β· top 10%
  • #3,021of 5,498
    Most Pathogenic Variants8
  • #7,184of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedCLDN1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Claudin-1 interacts with EPHA2 to promote cancer stemness and chemoresistance in colorectal cancer.
PMID: 37924938
Cancer Lett Β· 2023
1.00
2
Piezo1 regulates intestinal epithelial function by affecting the tight junction protein claudin-1 via the ROCK pathway.
PMID: 33636174
Life Sci Β· 2021
0.90
3
Claudin-1 is a mediator and therapeutic target in primary sclerosing cholangitis.
PMID: 40846184
J Hepatol Β· 2025
0.80
4
Association between BRAFV600E mutation and gene expression of CLDN1, TIMP1, and KRT19 in papillary thyroid cancer.
PMID: 40669608
Mol Cell Endocrinol Β· 2025
0.72
5
Dysregulation of KRT19, TIMP1, and CLDN1 gene expression is associated with thyroid cancer.
PMID: 35679711
Biochem Biophys Res Commun Β· 2022
0.70