PKP3 (Plakophilin 3) Gene
A key component of desmosomes involved in cell adhesion and signaling
Gene Information Card
| Symbol | PKP3 |
|---|---|
| Full Name | Plakophilin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 11187 ncbi.nlm.nih.gov/gene/11187 |
| Ensembl ID | ENSG00000184363 |
| UniProt ID | Q9Y446 |
| OMIM ID | 605161 |
| HGNC ID | 9025 |
| Aliases | PKP3a, PKP3b |
Description
PKP3 (plakophilin 3) is a member of the armadillo repeat protein family and a component of desmosomes, which are intercellular junctions that provide mechanical strength to tissues. It is involved in cell adhesion, signaling, and regulation of the Wnt pathway. PKP3 is widely expressed in epithelial tissues and has been implicated in cancer progression and arrhythmogenic cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | Loss of desmosomal integrity due to PKP3 mutations disrupts cell-cell adhesion, leading to myocyte detachment and fibrofatty replacement. | ClinVar; PMID: 24055113 |
| Breast cancer | PKP3 overexpression promotes tumor cell migration and invasion via desmosome remodeling and Wnt/β-catenin signaling. | COSMIC; PMID: 21947068 |
| Lung cancer | Altered PKP3 expression correlates with poor prognosis and epithelial-mesenchymal transition (EMT). | COSMIC; PMID: 25652263 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 45.2 | High |
| Esophagus | 38.7 | High |
| Breast | 25.1 | Medium |
| Lung | 18.3 | Medium |
| Heart | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 32.4 | High expression |
| A549 (lung cancer) | 22.1 | Medium expression |
| HaCaT (keratinocyte) | 48.6 | High expression |
| HEK293 (embryonic kidney) | 12.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.796C>T (p.Arg266*) | Nonsense | <0.1% | Loss of function; associated with ARVC |
| c.1132G>A (p.Gly378Ser) | Missense | <0.1% | Unknown significance; reported in ClinVar |
| c.1667_1668insA (p.Gln556fs) | Frameshift | <0.1% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PKP3 lead to truncated or absent protein, impairing desmosome assembly and cell adhesion.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as a gain-of-function by promoting migration.
Dominant Negative (DN)
Missense mutations may interfere with wild-type plakophilin 3 function in desmosome formation.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • desmosome assembly |
| • Wnt signaling pathway | • protein binding |
| • cadherin binding |
Pathways
• Desmosome assembly
• Wnt/β-catenin signaling
• Cell junction organization
Protein Summary
Plakophilin 3 is a 797-amino acid protein containing armadillo repeats that mediate interactions with desmosomal cadherins and intermediate filaments. It localizes to desmosomes and the nucleus, where it may modulate transcription. The protein is essential for maintaining tissue integrity and is implicated in cancer and cardiac disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKP3 Knockout HEK293 Cell Line | EDJ-KQ3037 | Human | 11187 | Details Get a Quote |
| PKP3 Knockout A-549 Cell Line | EDJ-KQ24268 | Human | 11187 | Details Get a Quote |
| PKP3 Knockout HCT 116 Cell Line | EDJ-KQ24269 | Human | 11187 | Details Get a Quote |
| PKP3 Knockout HeLa Cell Line | EDJ-KQ24270 | Human | 11187 | Details Get a Quote |
