PCDH8
Protocadherin-8: A cell adhesion molecule implicated in neural development and cancer
Gene Information Card
| Symbol | PCDH8 |
|---|---|
| Full Name | Protocadherin 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 5100 ncbi.nlm.nih.gov/gene/5100 |
| Ensembl ID | ENSG00000136099 |
| UniProt ID | O95206 |
| OMIM ID | 603580 |
| HGNC ID | 8659 |
| Aliases | PCDH8, protocadherin-8, cadherin-like protein 8 |
Description
PCDH8 (Protocadherin 8) is a member of the protocadherin family, which are calcium-dependent cell adhesion molecules predominantly expressed in the nervous system. It plays a role in neural development, synaptic plasticity, and tumor suppression. PCDH8 is located on chromosome 13q14.3, a region frequently deleted in various cancers, and its downregulation or mutation has been linked to tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of PCDH8 expression via promoter methylation or deletion contributes to tumor invasion and metastasis. | ClinVar, COSMIC |
| Prostate cancer | Frequent downregulation of PCDH8 associated with aggressive disease and poor prognosis. | NCBI Gene, OMIM |
| Colorectal cancer | PCDH8 silencing via hypermethylation promotes cell proliferation and migration. | COSMIC, ClinVar |
| Ovarian cancer | Reduced PCDH8 expression correlates with advanced stage and metastasis. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.3 | Medium |
| Cerebellum | 18.7 | Medium |
| Spinal cord | 8.2 | Low |
| Testis | 6.1 | Low |
| Breast | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.5 | Neuronal expression |
| MCF7 (breast cancer) | 1.2 | Low expression |
| PC3 (prostate cancer) | 0.8 | Very low expression |
| HCT116 (colorectal cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; premature stop codon |
| c.890_891insA (p.Gln297fs) | Frameshift | <0.1% | Loss of function; protein truncation |
| c.1456G>C (p.Gly486Arg) | Missense | <0.1% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing 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 | • synaptic membrane adhesion |
| • nervous system development |
Pathways
• Cell adhesion molecules (CAMs)
• Cadherin signaling pathway
• Wnt signaling pathway (modulation)
Protein Summary
Protocadherin-8 is a transmembrane protein with extracellular cadherin repeats that mediate homophilic cell-cell adhesion. It is involved in neural circuit formation and synaptic function. Loss of PCDH8 expression is observed in several cancers, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDH8 Knockout HEK293 Cell Line | EDJ-KQ5410 | Human | 5100 | Details Get a Quote |
| PCDH8 Knockout HeLa Cell Line | EDJ-KQ54089 | Human | 5100 | Details Get a Quote |
| PCDH8 Knockout A-549 Cell Line | EDJ-KQ62578 | Human | 5100 | Details Get a Quote |
| PCDH8 Knockout HCT 116 Cell Line | EDJ-KQ71047 | Human | 5100 | Details Get a Quote |
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