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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CLDN10
claudin 10
Chromosome 13 Β· 13q32.1
NCBI Gene: 9071Ensembl: ENSG00000134873.11HGNC: HGNC:2033UniProt: P78369
49PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingregulation of monoatomic ion transportplasma membranecalcium-independent cell-cell adhesionhelix rollingAbnormality of the skeletal systemnephrolithiasisalcohol drinking
✦AI Summary

CLDN10 (claudin 10) is a tight junction protein that forms anion-selective paracellular channels in epithelial barriers. In renal proximal tubules, CLDN10 mediates selective chloride over bicarbonate permeability, essential for renal chloride reabsorption and salt homeostasis. 1 Biallelic CLDN10 pathogenic variants cause HELIX syndrome, a rare multiplex epithelium dysfunction characterized by hypohidrosis, electrolyte imbalance, heat intolerance, and reduced tear secretion. 2 Rare coding variants in CLDN10 are associated with altered kidney function traits. 1 Beyond structural functions, CLDN10 exhibits signaling capabilities with context-dependent roles in disease. In clear cell renal cell carcinoma (ccRCC), high CLDN10 expression at the cell surface promotes malignancy through cooperation with LAT1 amino acid transporter, activating mTOR signaling and driving tumor progression. 3 Conversely, downregulated CLDN10 in ccRCC is associated with metastasis and poor prognosis, with reduced expression linked to DNA hypermethylation and diminished immune infiltration. 4 In lung adenocarcinoma, lower CLDN10 expression in invasive lesions correlates with disease progression and unfavorable prognosis. 5 Additionally, CLDN10-AS1 lncRNA transferred via extracellular vesicles aggravates vascular endothelial injury in atherosclerosis. 6 During primate development, CLDN10 marks amnion-epiblast boundary progenitors and promotes amniotic while suppressing primordial germ cell fate. 7

Sources cited
1
CLDN10 frameshift alleles are associated with kidney function traits and disease susceptibility
PMID: 36890159
2
Biallelic CLDN10 pathogenic variants cause HELIX syndrome with hypohidrosis, electrolyte imbalance, heat intolerance, and reduced tear secretion
PMID: 37984702
3
Cell surface CLDN10 cooperates with LAT1 transporter to promote ccRCC progression via mTOR signaling activation and predicts poor outcome
PMID: 39639312
4
Downregulated CLDN10 in ccRCC is associated with metastasis, poor prognosis, DNA hypermethylation, and reduced immune cell infiltration
PMID: 33203244
5
Lower CLDN10 expression in invasive lung adenocarcinoma compared to adenocarcinoma in situ correlates with disease progression and unfavorable prognosis
PMID: 23591077
6
CLDN10-AS1 lncRNA carried by extracellular vesicles aggravates ox-LDL-induced vascular endothelial injury via miR-186/YY1 axis
PMID: 36250558
7
CLDN10 marks amnion-epiblast boundary progenitors and promotes amniotic while suppressing primordial germ cell-like fate in primate development
PMID: 40898353
Disease Associationsβ“˜21
helix rollingOpen Targets
0.71Strong
Abnormality of the skeletal systemOpen Targets
0.39Weak
nephrolithiasisOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.29Weak
urolithiasisOpen Targets
0.27Weak
polyarteritis nodosaOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
bladder calculusOpen Targets
0.17Weak
goutOpen Targets
0.17Weak
HypokalemiaOpen Targets
0.12Weak
HypomagnesemiaOpen Targets
0.12Weak
Lower limb muscle weaknessOpen Targets
0.12Weak
nonpapillary renal cell carcinomaOpen Targets
0.10Suggestive
papillary thyroid carcinomaOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.08Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.06Suggestive
ovarian cancerOpen Targets
0.05Suggestive
melanomaOpen Targets
0.05Suggestive
HELIX syndromeUniProt
Pathogenic Variants7
NM_006984.5(CLDN10):c.653del (p.Pro218fs)Pathogenic
HELIX syndrome
β˜…β˜…β˜†β˜†2021β†’ Residue 218
NM_006984.5(CLDN10):c.497G>A (p.Trp166Ter)Pathogenic
HELIX syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 166
NM_006984.5(CLDN10):c.142A>C (p.Asn48His)Likely pathogenic
HELIX syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 48
NM_006984.5(CLDN10):c.2T>C (p.Met1Thr)Pathogenic
HELIX syndrome
β˜†β˜†β˜†β˜†2018β†’ Residue 1
NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu)Pathogenic
HELIX syndrome
β˜†β˜†β˜†β˜†2018β†’ Residue 131
NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys)Pathogenic
HELIX syndrome
β˜†β˜†β˜†β˜†2017β†’ Residue 48
NM_006984.5(CLDN10):c.138G>A (p.Trp46Ter)Pathogenic
HELIX syndrome
β˜†β˜†β˜†β˜†β†’ Residue 46
View on ClinVar β†—
Related Genes
TJP1Protein interaction98%OCLNProtein interaction96%TJP3Protein interaction87%CLDN25Protein interaction79%CLDN18Protein interaction78%CLDN3Protein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
64%
Liver
10%
Ovary
2%
Lung
2%
Heart
2%
Gene Interaction Network
Click a node to explore
CLDN10TJP1OCLNTJP3CLDN25CLDN18CLDN3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P78369
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.21LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.48–1.21]
RankingsWhere CLDN10 stands among ~20K protein-coding genes
  • #8,926of 20,598
    Most Researched49
  • #3,224of 5,498
    Most Pathogenic Variants7
  • #12,699of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedCLDN10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.
PMID: 36890159
Nat Commun Β· 2023
1.00
2
Extrajunctional CLDN10 cooperates with LAT1 and accelerates clear cell renal cell carcinoma progression.
PMID: 39639312
Cell Commun Signal Β· 2024
0.90
3
Claudins and hepatocellular carcinoma.
PMID: 38185042
Biomed Pharmacother Β· 2024
0.80
4
Clinical and molecular features of four families with CLDN10-related HELIX syndrome.
PMID: 37984702
Eur J Med Genet Β· 2023
0.70
5
CLDN10-driven lineage decision in an amnion and primordial germ cell progenitor at the amnion-epiblast boundary in primates.
PMID: 40898353
Genome Biol Β· 2025
0.60