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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. This gene is expressed in the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and claudin 2 are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, Sep 2011]
CLDN12 (Claudin 12) is a Protein Coding gene. Diseases associated with CLDN12 include Deafness, Autosomal Recessive 29. Among its related pathways are Cell junction organization and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 20375010 |
GO:0042802 | identical protein binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA,IDA | 20375010 |
GO:0005923 | bicellular tight junction | ISS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016328 | lateral plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling | ||
2 | Cell junction organization | ||
3 | Blood-Brain Barrier: Anatomy | ||
4 | Sertoli-Sertoli Cell Junction Dynamics |
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
5 | Integrin Pathway |
Transendothelial Migration of Leukocytes
.38
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016338 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules | ISS | -- |
GO:0035633 | maintenance of permeability of blood-brain barrier | NAS | 30280653 |
GO:0120192 | NOT tight junction assembly | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||
SP8: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLDN12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLDN12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CLDN12 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CLDN12 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cldn12 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cldn12 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CLDN12 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CLDN12 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cldn12 30 |
|
||
Str.7430 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | cldn12 30 31 |
|
OneToOne |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 29 |
|
|