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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. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
CLDN7 (Claudin 7) is a Protein Coding gene. Diseases associated with CLDN7 include Ductal Carcinoma In Situ and Oncocytoma. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005515 | protein binding | IPI | 16054130 |
GO:0019904 | protein domain specific binding | IEA | -- |
GO:0042802 | identical protein binding | ISS | -- |
GO:0050839 | cell adhesion molecule binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA,IDA | 20375010 |
GO:0005923 | bicellular tight junction | IEA,ISS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016323 | basolateral 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 | Cell adhesion molecules (CAMs) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IBA | 21873635 |
GO:0007162 | negative regulation of cell adhesion | IEA | -- |
GO:0008284 | positive regulation of cell proliferation | IEA | -- |
GO:0016338 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules | ISS | -- |
GO:0031333 | negative regulation of protein complex assembly | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLDN7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CLDN7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLDN7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cldn7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cldn7 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CLDN7 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | cldn7b 30 31 |
|
OneToMany | |
cldn7a 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709182 | Likely Benign: not provided | 7,260,912(-) | C/T | SYNONYMOUS_VARIANT | |
rs17849410 | - | p.Ala133Thr | |||
rs4562 | - | p.Val197Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv885e212 | CNV | loss | 25503493 |
esv2422288 | CNV | deletion | 17116639 |
esv2665200 | CNV | deletion | 23128226 |
esv3639861 | CNV | loss | 21293372 |
nsv1963 | CNV | deletion | 18451855 |
nsv457659 | CNV | loss | 19166990 |
nsv480494 | CNV | novel sequence insertion | 20440878 |
nsv574322 | CNV | loss | 21841781 |
nsv952118 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ductal carcinoma in situ |
|
|
oncocytoma |
|
|
prostate transitional cell carcinoma |
|
|
renal oncocytoma |
|
|
pancreatoblastoma |
|
|