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This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]
CLDN11 (Claudin 11) is a Protein Coding gene. Diseases associated with CLDN11 include Lyme Disease and Deafness, Autosomal Recessive 29. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is ENSG00000285218.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005515 | protein binding | IPI | 20375010 |
GO:0042802 | identical protein binding | IMP,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005811 | lipid droplet | IDA | -- |
GO:0005883 | neurofilament | IDA | 30734065 |
GO:0005886 | plasma membrane | IBA,IDA | 20375010 |
GO:0005923 | bicellular tight junction | IBA,ISS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways | ||
2 | Cell junction organization | ||
3 | Blood-Brain Barrier Pathway: Anatomy | ||
4 | Sertoli-Sertoli Cell Junction Dynamics |
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
5 | Cell adhesion molecules |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA,IBA | 21873635 |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0008366 | axon ensheathment | IEA | -- |
GO:0016338 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules | ISS | -- |
GO:0070830 | bicellular tight junction assembly | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6876 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLDN11 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLDN11 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CLDN11 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CLDN11 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cldn11 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cldn11 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CLDN11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CLDN11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cldn11 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cldn11a 30 31 |
|
OneToMany | |
cldn11b 31 |
|
OneToMany | |||
Dr.12486 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1577466242 | Uncertain Significance: Marfanoid habitus and intellectual disability | 170,419,158(+) |
TGGTGACCTGCGG/T NM_005602.6(CLDN11):c.93_104del (p.Val32_Gly35del) |
INFRAME_DELETION |
Disorder | Aliases | PubMed IDs |
---|---|---|
lyme disease |
|
|
deafness, autosomal recessive 29 |
|
|
pyriform sinus cancer |
|
|
microcystic adenoma |
|
|
orchitis |
|
|