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This gene encodes a classical cadherin of the cadherin superfamily. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classical cadherin by imparting to cells the ability to adhere in a homophilic manner, this protein plays a role in endothelial adherens junction assembly and maintenance. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. [provided by RefSeq, Nov 2015]
CDH5 (Cadherin 5) is a Protein Coding gene. Diseases associated with CDH5 include Epithelioid Sarcoma and Periapical Granuloma. Among its related pathways are Signaling by GPCR and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel binding. An important paralog of this gene is CDH18.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IPI | 12088286 |
GO:0005509 | calcium ion binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 15985432 |
GO:0008013 | beta-catenin binding | IPI | 18287330 |
GO:0008092 | cytoskeletal protein binding | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005911 | cell-cell junction | IDA | 15572031 |
GO:0005912 | adherens junction | IMP | 26923917 |
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 | ERK Signaling |
Rho Family GTPases
.61
|
ILK Signaling
.49
|
5 | RET signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IBA | 21873635 |
GO:0001932 | regulation of protein phosphorylation | IDA | 23159740 |
GO:0001944 | vasculature development | IBA | 21873635 |
GO:0001955 | blood vessel maturation | IEA | -- |
GO:0006874 | cellular calcium ion homeostasis | IDA | 23159740 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Cadherin Peptide, avian | Role in cell adhesion | 127650-08-2 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CDH5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CDH5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CDH5 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cdh5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cdh5 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CDH5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CDH5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CDH5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cdh5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cdh5 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
689705 | Uncertain Significance: Marfanoid habitus and intellectual disability | 66,386,863(+) | G/A | MISSENSE_VARIANT | |
743245 | Likely Benign: not provided | 66,390,488(+) | G/C | MISSENSE_VARIANT | |
784343 | Benign: not provided | 66,390,419(+) | C/T | SYNONYMOUS_VARIANT | |
rs1049970 | - | p.Ile517Thr | |||
rs16956504 | - | p.Ile503Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2468646 | CNV | deletion | 19546169 |
esv2714642 | CNV | deletion | 23290073 |
esv2714643 | CNV | deletion | 23290073 |
esv3448646 | CNV | duplication | 20981092 |
esv4828 | CNV | loss | 18987735 |
nsv572902 | CNV | loss | 21841781 |
nsv833264 | CNV | gain | 17160897 |
nsv958050 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epithelioid sarcoma |
|
|
periapical granuloma |
|
|
acute myocardial infarction |
|
|
ovarian hyperstimulation syndrome |
|
|
melanoma, uveal |
|