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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CLDN2
claudin 2
Chromosome X · Xq22.3
NCBI Gene: 9075Ensembl: ENSG00000165376.13HGNC: HGNC:2041UniProt: P57739
125PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell junctiontight junctionidentical protein bindingparacellular tight junction channel activityazoospermia, obstructive, with nephrolithiasismale infertilitycolorectal cancerulcerative colitis
✦AI Summary

CLDN2 (claudin-2) is a tight junction protein that forms paracellular cation- and water-selective channels in epithelial barriers 1. In the intestine, CLDN2 regulates sodium and water flux to control nutrient absorption and immune homeostasis 1. CLDN2 expression is tightly regulated through autophagy-mediated degradation via clathrin-dependent endocytosis and AP2M1-LC3 interactions; autophagy-induced CLDN2 degradation enhances barrier function by reducing paracellular permeability 1. Dysregulated CLDN2 has significant pathological consequences. Elevated CLDN2 expression in sepsis increases intestinal permeability, promotes pathogenic dysbiosis, enhances immune activation, and increases mortality, while CLDN2 knockout dramatically improves survival 2. Conversely, in inflammatory bowel disease, CLDN2 upregulation promotes mucosal healing downstream of EGFR signaling and protects against colitis-associated cancer through Survivin regulation 3. CLDN2 variants (rs7057398) are genetically associated with acute pancreatitis susceptibility in Caucasians 4, and CLDN2 mutations contribute to hereditary pancreatitis pathogenesis 5. These findings indicate CLDN2's context-dependent role: while promoting recovery in IBD, elevated CLDN2 worsens sepsis outcomes, suggesting therapeutic potential as a target in septic patients.

Sources cited
1
CLDN2 forms paracellular cation and water channels; autophagy-mediated degradation via AP2M1-LC3 interactions reduces intestinal permeability
PMID: 34964704
2
CLDN2 upregulation in sepsis increases permeability, dysbiosis, and mortality; CLDN2 knockout prevents these effects and enhances survival
PMID: 38412124
3
CLDN2 promotes mucosal healing downstream of EGFR signaling and protects against colitis-associated cancer through Survivin regulation in IBD
PMID: 37815870
4
CLDN2 rs7057398 polymorphism is significantly associated with acute pancreatitis susceptibility in Caucasians
PMID: 31163246
5
CLDN2 mutations associate with hereditary pancreatitis pathogenesis
PMID: 34798985
Disease Associationsⓘ21
azoospermia, obstructive, with nephrolithiasisOpen Targets
0.40Weak
male infertilityOpen Targets
0.33Weak
colorectal cancerOpen Targets
0.11Weak
ulcerative colitisOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
colitisOpen Targets
0.11Weak
necrotizing enterocolitisOpen Targets
0.10Suggestive
SepsisOpen Targets
0.09Suggestive
esophageal adenocarcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
focal segmental glomerulosclerosisOpen Targets
0.08Suggestive
osteoarthritis, kneeOpen Targets
0.08Suggestive
Salmonella InfectionsOpen Targets
0.08Suggestive
nephrotic syndromeOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
Azoospermia, obstructive, with nephrolithiasisUniProt
Pathogenic Variants1
NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg)Pathogenic
Azoospermia, obstructive, with nephrolithiasis|Male infertility
☆☆☆☆2025→ Residue 161
View on ClinVar ↗
Related Genes
OCLNProtein interaction96%MARVELD2Protein interaction89%TJP3Protein interaction87%TJP2Protein interaction85%CLDN3Protein interaction81%CLDN11Protein interaction81%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Bone Marrow
0%
Lung
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CLDN2OCLNMARVELD2TJP3TJP2CLDN3CLDN11
PROTEIN STRUCTURE
Preparing viewer…
PDB4YYX · 1.79 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.90Intermediate
Observed/Expected LoF0.12 [0.04–0.58]
RankingsWhere CLDN2 stands among ~20K protein-coding genes
  • #3,758of 20,598
    Most Researched125 · top quartile
  • #4,820of 5,498
    Most Pathogenic Variants1
  • #3,892of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedCLDN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
PMID: 31286804
Autophagy · 2020
1.00
2
Claudin-2 protects against colitis-associated cancer by promoting colitis-associated mucosal healing.
PMID: 37815870
J Clin Invest · 2023
0.90
3
AP2M1 mediates autophagy-induced CLDN2 (claudin 2) degradation through endocytosis and interaction with LC3 and reduces intestinal epithelial tight junction permeability.
PMID: 34964704
Autophagy · 2022
0.80
4
Multidirectional characterization of cellular composition and spatial architecture in human multiple primary lung cancers.
PMID: 37488117
Cell Death Dis · 2023
0.70
5
PMID: 24624459
0.60