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This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]
CDH20 (Cadherin 20) is a Protein Coding gene. Diseases associated with CDH20 include Charge Syndrome and Craniofacial-Deafness-Hand Syndrome. Among its related pathways are S-1P Stimulated Signaling and WNT Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IBA | 21873635 |
GO:0045296 | cadherin binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0005912 | adherens junction | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016342 | catenin complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | G12-G13 in Cellular Signaling |
G12-G13 in Cellular Signaling
-
|
|
2 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.61
|
|
3 | ERK Signaling |
ILK Signaling
.49
|
|
4 | S-1P Stimulated Signaling |
S-1P Stimulated Signaling
-
|
|
5 | WNT Signaling |
WNT Signaling
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IBA | 21873635 |
GO:0007043 | cell-cell junction assembly | IBA | 21873635 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IEA | -- |
GO:0007275 | multicellular organism development | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6876 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CDH20 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CDH20 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CDH20 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CDH20 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cdh20 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cdh20 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CDH20 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CDH20 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CDH20 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cdh20 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.153 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34813888 | Benign: not provided | 61,490,670(+) |
A/G NM_031891.4(CDH20):c.117A>G (p.Pro39=) |
SYNONYMOUS | |
VAR_036103 | A breast cancer sample |
p.Met228Ile |
|||
VAR_036104 | A breast cancer sample |
p.Pro416Thr |
|||
VAR_036105 | A breast cancer sample |
p.Gln746His |
|||
rs17068463 | - |
p.Pro391Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1603313 | CNV | deletion | 17803354 |
esv2664717 | CNV | deletion | 23128226 |
esv3307059 | CNV | mobile element insertion | 20981092 |
esv3343786 | CNV | insertion | 20981092 |
esv3376534 | CNV | insertion | 20981092 |
esv3555490 | CNV | deletion | 23714750 |
esv3642733 | CNV | loss | 21293372 |
nsv524346 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charge syndrome |
|
|
craniofacial-deafness-hand syndrome |
|
|
choanal atresia, posterior |
|
|
t-cell immunodeficiency with thymic aplasia |
|
|
coloboma of macula |
|
|