PCDH20
Protocadherin 20
Gene Information Card
| Symbol | PCDH20 |
|---|---|
| Full Name | Protocadherin 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q21.1 |
| NCBI Gene ID | 64881 ncbi.nlm.nih.gov/gene/64881 |
| Ensembl ID | ENSG00000134864 |
| UniProt ID | Q8N6Y1 |
| OMIM ID | 614449 |
| HGNC ID | 14273 |
| Aliases | PCDH20, protocadherin 20 |
Description
PCDH20 (protocadherin 20) is a member of the protocadherin family, part of the cadherin superfamily of calcium-dependent cell adhesion molecules. It is involved in cell-cell adhesion, neural development, and tumor suppression. PCDH20 is frequently silenced by promoter methylation in various cancers, suggesting a role as a tumor suppressor gene.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Promoter hypermethylation leads to reduced expression, contributing to tumor progression | NCBI Gene, COSMIC |
| Colorectal cancer | Frequent methylation-associated silencing; loss of PCDH20 promotes invasion and metastasis | NCBI Gene, COSMIC |
| Breast cancer | Downregulation via methylation correlates with poor prognosis | NCBI Gene, COSMIC |
| Gastric cancer | Epigenetic silencing associated with tumor growth and metastasis | NCBI Gene, COSMIC |
| Hepatocellular carcinoma | Reduced expression due to methylation linked to aggressive phenotype | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 1.2 | Low |
| Liver | 0.8 | Low |
| Colon | 1.5 | Low |
| Breast | 0.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 0.3 | Low expression; often methylated |
| HCT116 (colorectal) | 0.5 | Low expression; methylated |
| MCF7 (breast cancer) | 0.4 | Low expression; methylated |
| HepG2 (liver cancer) | 0.2 | Low expression; methylated |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown significance |
| c.567G>A | Nonsense | <0.1% | Likely loss of function |
| Promoter methylation | Epigenetic | Common in cancers | Silencing of gene expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations and promoter methylation lead to loss of PCDH20 expression, impairing cell adhesion and promoting tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • homophilic cell adhesion via plasma membrane adhesion molecules | • plasma membrane |
| • integral component of membrane |
Pathways
• Cadherin signaling pathway
• Cell adhesion molecules (CAMs)
Protein Summary
PCDH20 encodes a transmembrane protocadherin protein with extracellular cadherin repeats, a single transmembrane domain, and a cytoplasmic tail. It mediates calcium-dependent cell-cell adhesion and is involved in neural development. Loss of expression via epigenetic silencing is implicated in multiple cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDH20 Knockout HEK293 Cell Line | EDJ-KQ51634 | Human | 64881 | Details Get a Quote |
| PCDH20 Knockout HeLa Cell Line | EDJ-KQ57091 | Human | 64881 | Details Get a Quote |
| PCDH20 Knockout A-549 Cell Line | EDJ-KQ65603 | Human | 64881 | Details Get a Quote |
| PCDH20 Knockout HCT 116 Cell Line | EDJ-KQ74031 | Human | 64881 | Details Get a Quote |
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