CLDN11: Claudin 11 - A Key Tight Junction Protein in Myelination and CNS Function
Comprehensive genomic, transcriptomic, and proteomic analysis of CLDN11, a critical component of central nervous system myelin and blood-brain barrier integrity.
Gene Information Card
| Symbol | CLDN11 |
|---|---|
| Full Name | Claudin 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.2 |
| NCBI Gene ID | 5010 ncbi.nlm.nih.gov/gene/5010 |
| Ensembl ID | ENSG00000132965 |
| UniProt ID | O75508 |
| OMIM ID | 601326 |
| HGNC ID | 2037 |
| Aliases | OSP, OTM |
Description
CLDN11 (Claudin 11) encodes a member of the claudin family of tight junction proteins. This protein is a major component of central nervous system myelin, specifically localized to the tight junctions of oligodendrocytes and Schwann cells. It plays a crucial role in the formation and maintenance of the blood-brain barrier and in the electrical insulation of axons. Mutations in CLDN11 are associated with hypomyelinating leukodystrophy and have been implicated in multiple sclerosis and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy 22 (HLD22) | Loss-of-function mutations in CLDN11 disrupt tight junction formation in oligodendrocytes, leading to impaired myelination and neurological deficits. | ClinVar, OMIM |
| Multiple sclerosis | Reduced CLDN11 expression in CNS lesions correlates with blood-brain barrier breakdown and demyelination. | NCBI Gene, PubMed |
| Schizophrenia | Altered CLDN11 expression in prefrontal cortex has been observed in postmortem studies, suggesting a role in synaptic and myelin integrity. | NCBI Gene, PubMed |
| Glioblastoma | CLDN11 is frequently downregulated in glioblastoma, contributing to increased tumor cell invasion and blood-brain barrier disruption. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 12.3 | Medium |
| Spinal cord | 25.1 | High |
| Lung | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oligodendrocytes | 35.0 | Primary CNS myelin-forming cells |
| Schwann cells | 22.4 | Peripheral nervous system |
| U-87 MG (glioblastoma) | 0.8 | Low expression; loss correlates with invasion |
| SH-SY5Y (neuroblastoma) | 5.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | Rare | Loss of tight junction function; associated with HLD22 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; severe hypomyelination |
| c.448G>A (p.Gly150Arg) | Missense | Rare | Impaired protein trafficking; reduced barrier function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that disrupt protein folding, trafficking, or tight junction assembly, leading to hypomyelination and leukodystrophy.
Gain of Function (GOF)
Not reported for CLDN11.
Dominant Negative (DN)
Not reported for CLDN11.
View complete mutation data：
Gene Ontology (GO)
| • Tight junction | • Cell-cell junction |
| • Myelin sheath | • Blood-brain barrier |
| • Protein homooligomerization | • Calcium-independent cell-cell adhesion |
Pathways
• Tight junction (KEGG hsa04530)
• Cell adhesion molecules (CAMs) (KEGG hsa04514)
• Myelination (Reactome R-HSA-9616222)
Protein Summary
Claudin 11 is a 23.5 kDa transmembrane protein with four transmembrane domains, two extracellular loops, and intracellular N- and C-termini. It forms tight junction strands through homophilic and heterophilic interactions with other claudins. In the CNS, it is essential for the radial component of myelin in oligodendrocytes, contributing to the high-resistance barrier that enables saltatory conduction. The protein is also expressed in testis Sertoli cells, where it contributes to the blood-testis barrier.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN11 Knockout HEK293 Cell Line | EDJ-KQ50497 | Human | 5010 | Details Get a Quote |
| CLDN11 Knockout HeLa Cell Line | EDJ-KQ54062 | Human | 5010 | Details Get a Quote |
| CLDN11 Knockout A-549 Cell Line | EDJ-KQ62550 | Human | 5010 | Details Get a Quote |
| CLDN11 Knockout HCT 116 Cell Line | EDJ-KQ71022 | Human | 5010 | Details Get a Quote |
