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GeneE
27 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.
OCLN
occludin
Chromosome 5 Β· 5q13.2
NCBI Gene: 100506658Ensembl: ENSG00000197822.13HGNC: HGNC:8104UniProt: A8K3T2
277PubMed Papers
21Diseases
0Drugs
22Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
bicellular tight junctionnegative regulation of gene expressioncytoplasmic vesiclelysosomal membraneCongenital intrauterine infection-like syndromehypertensionIncreased blood pressureneurodegenerative disease
✦AI Summary

OCLN (occludin) is an integral tight junction protein with critical roles in maintaining epithelial and endothelial barriers. Structurally, occludin contains a MARVEL domain essential for its function 1. Primary functions include regulating paracellular transport and serving as an HCV coreceptor in hepatocytes [UniProt]. Beyond structural barrier roles, occludin regulates apoptosis by enhancing caspase-3 transcription, with inflammation-induced occludin downregulation paradoxically limiting epithelial apoptosis in gastrointestinal disease 2. OCLN expression is downregulated by T helper 2 cytokines (IL-4/IL-13) via STAT6 phosphorylation in atopic dermatitis, impairing skin barrier function 3. During sepsis-induced lung injury, microRNA-193b-5p suppresses occludin expression, reducing endothelial barrier integrity; MSC therapy counteracts this through miR-193b-5p inhibition 4. Pathologically, Streptococcus pneumoniae induces occludin degradation through autophagy via bacterial StkP-mediated BECN1 phosphorylation, compromising the alveolar epithelial barrier 5. OCLN variants cause pseudo-TORCH syndrome 1, characterized by developmental delay, polymicrogyria, and epilepsy 6. In cancer, occludin is typically downregulated and serves as a prognostic biomarker inversely correlating with tumor progression in renal cell carcinoma 7. These findings establish OCLN as a multifunctional protein governing both barrier integrity and immunoregulatory processes.

Sources cited
1
S. pneumoniae induces autophagy-dependent occludin degradation in alveolar epithelial cells via bacterial StkP-mediated BECN1 phosphorylation, causing barrier dysfunction
PMID: 38497494
2
Occludin regulates apoptosis by enhancing caspase-3 transcription; inflammation-induced occludin downregulation limits epithelial apoptosis in gastrointestinal disease
PMID: 31401143
3
IL-4 and IL-13 downregulate occludin expression via STAT6 phosphorylation in keratinocytes, impairing skin barrier function in atopic dermatitis
PMID: 37734479
4
Occludin contains a MARVEL domain essential for HCV entry; OCLN splicing diversity affects tissue tropism and HCV permissiveness
PMID: 20463075
5
MicroRNA-193b-5p suppresses occludin expression during sepsis; MSC therapy attenuates lung injury by inhibiting miR-193b-5p and restoring occludin
PMID: 34112731
6
Homozygous OCLN variants cause pseudo-TORCH syndrome 1 with severe developmental delay, microcephaly, polymicrogyria, and epilepsy
PMID: 34704946
7
Occludin is significantly downregulated in kidney renal clear cell carcinoma; low expression correlates with poor prognosis and reduced immune infiltration
PMID: 37809090
Disease Associationsβ“˜21
Congenital intrauterine infection-like syndromeOpen Targets
0.80Strong
hypertensionOpen Targets
0.41Moderate
Increased blood pressureOpen Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.34Weak
Primary microcephalyOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
Cerebral calcificationOpen Targets
0.26Weak
nephrolithiasisOpen Targets
0.25Weak
cervical carcinomaOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
strokeOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
ulcerative colitisOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
acute lung injuryOpen Targets
0.08Suggestive
allergic rhinitisOpen Targets
0.08Suggestive
gestational diabetesOpen Targets
0.08Suggestive
cardiovascular diseaseOpen Targets
0.07Suggestive
bladder transitional cell carcinomaOpen Targets
0.07Suggestive
CDH1-related diffuse gastric and lobular breast cancer syndromeOpen Targets
0.07Suggestive
Pseudo-TORCH syndrome 1UniProt
Pathogenic Variants22
NM_001205254.2(OCLN):c.1037+1G>APathogenic
Pseudo-TORCH syndrome 1
β˜…β˜…β˜†β˜†2025
NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)Pathogenic
Pseudo-TORCH syndrome 1|OCLN-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 36
NM_001205254.2(OCLN):c.981del (p.Asn328fs)Likely pathogenic
Pseudo-TORCH syndrome 1
β˜…β˜†β˜†β˜†2024β†’ Residue 328
NM_001205254.2(OCLN):c.35dup (p.Tyr12Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 12
NM_001205254.2(OCLN):c.630_645del (p.Gln211fs)Likely pathogenic
Pseudo-TORCH syndrome 1
β˜…β˜†β˜†β˜†2023β†’ Residue 211
NM_001205254.2(OCLN):c.1254-1G>ALikely pathogenic
Pseudo-TORCH syndrome 1
β˜…β˜†β˜†β˜†2023
NM_001205254.2(OCLN):c.138_139del (p.Phe46fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 46
NM_001205254.2(OCLN):c.1324G>T (p.Glu442Ter)Pathogenic
Pseudo-TORCH syndrome 1
β˜…β˜†β˜†β˜†2022β†’ Residue 442
NM_001205254.2(OCLN):c.1054C>T (p.Gln352Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 352
NM_001205254.2(OCLN):c.513C>A (p.Tyr171Ter)Pathogenic
Pseudo-TORCH syndrome 1
β˜…β˜†β˜†β˜†2020β†’ Residue 171
NM_001205254.2(OCLN):c.50+2T>CLikely pathogenic
Pseudo-TORCH syndrome 1
β˜…β˜†β˜†β˜†2019
NM_001205254.2(OCLN):c.724C>T (p.Gln242Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 242
NM_001205254.2(OCLN):c.23del (p.Ser8fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 8
NM_001205254.2(OCLN):c.1016_1017del (p.Glu339fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 339
NM_001205254.2(OCLN):c.1037+5G>APathogenic
Pseudo-TORCH syndrome 1
β˜…β˜†β˜†β˜†2015
NM_001205254.2(OCLN):c.1542del (p.Gly515fs)Likely pathogenic
Pseudo-TORCH syndrome 1
β˜…β˜†β˜†β˜†β†’ Residue 515
NM_001205254.2(OCLN):c.546G>C (p.Leu182=)Likely pathogenic
Pseudo-TORCH syndrome 1
β˜†β˜†β˜†β˜†2019β†’ Residue 182
NM_001205254.2(OCLN):c.252del (p.Ser85fs)Likely pathogenic
Pseudo-TORCH syndrome 1
β˜†β˜†β˜†β˜†2015β†’ Residue 85
NM_001205254.2(OCLN):c.656T>C (p.Phe219Ser)Pathogenic
Pseudo-TORCH syndrome 1
β˜†β˜†β˜†β˜†2010β†’ Residue 219
NM_001205254.2(OCLN):c.512dup (p.Tyr171Ter)Pathogenic
Pseudo-TORCH syndrome 1
β˜†β˜†β˜†β˜†2010β†’ Residue 171
View on ClinVar β†—
Related Genes
JAM2Protein interaction100%CTNNB1Protein interaction100%PPP2R1AProtein interaction100%PPP2R1BProtein interaction100%CDH1Protein interaction99%F11RProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Lung
48%
Ovary
17%
Brain
13%
Bone Marrow
7%
Heart
2%
Gene Interaction Network
Click a node to explore
OCLNJAM2CTNNB1PPP2R1APPP2R1BCDH1F11R
PROTEIN STRUCTURE
Preparing viewer…
PDB1XAW Β· 1.45 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.73LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.49 [0.33–0.73]
RankingsWhere OCLN stands among ~20K protein-coding genes
  • #1,312of 20,598
    Most Researched277 Β· top 10%
  • #2,088of 5,498
    Most Pathogenic Variants22
  • #5,653of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedOCLN
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
PMID: 38497494
Autophagy Β· 2024
1.00
2
Inflammation-induced Occludin Downregulation Limits Epithelial Apoptosis by Suppressing Caspase-3 Expression.
PMID: 31401143
Gastroenterology Β· 2019
0.90
3
Benvitimod Inhibits IL-4- and IL-13-Induced Tight Junction Impairment by Activating AHR/ARNT Pathway and Inhibiting STAT6 Phosphorylation in Human Keratinocytes.
PMID: 37734479
J Invest Dermatol Β· 2024
0.80
4
Downregulation of OCLN and GAS1 in clear cell renal cell carcinoma.
PMID: 28184927
Oncol Rep Β· 2017
0.76
5
A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction.
PMID: 32240828
Eur J Med Genet Β· 2020
0.72