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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. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
CLDN5 (Claudin 5) is a Protein Coding gene. Diseases associated with CLDN5 include Velocardiofacial Syndrome and Brain Edema. 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 CLDN6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25323998 |
GO:0042802 | identical protein binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA,IDA | 23137377 |
GO:0005911 | cell-cell junction | IMP | 25753039 |
GO:0005923 | bicellular tight junction | IEA,ISS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA,TAS | 9192844 |
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:0003151 | outflow tract morphogenesis | TAS | 9192844 |
GO:0007043 | cell-cell junction assembly | IMP | 23288152 |
GO:0007155 | cell adhesion | IBA | 21873635 |
GO:0007179 | transforming growth factor beta receptor signaling pathway | IDA | 21168935 |
GO:0007612 | learning | TAS | 9192844 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLDN5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLDN5 30 |
|
||
Cow (Bos Taurus) |
Mammalia | CLDN5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cldn5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cldn5 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CLDN5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CLDN5 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cldn5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cldn5a 30 31 |
|
OneToMany | |
cldn5b 31 |
|
OneToMany | |||
cldnk 31 |
|
OneToMany | |||
FP102191.1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
984617 | Uncertain Significance: Neurodevelopmental abnormality | 19,524,092(-) |
A/G NM_003277.4(CLDN5):c.419T>C (p.Val140Ala) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4478n100 | CNV | loss | 25217958 |
esv2751940 | CNV | gain | 17911159 |
esv3575418 | CNV | gain | 25503493 |
esv3893434 | CNV | gain | 25118596 |
nsv588216 | CNV | gain | 21841781 |
nsv834127 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
velocardiofacial syndrome |
|
|
brain edema |
|
|
lymphocytic colitis |
|
|
meningoencephalitis |
|
|
demyelinating polyneuropathy |
|
|