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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PKP3
plakophilin 3
Chromosome 11 · 11p15.5
NCBI Gene: 11187Ensembl: ENSG00000184363.11HGNC: HGNC:9025UniProt: Q9Y446
118PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of translationprotein bindingenzyme bindingalpha-catenin bindingneurodegenerative diseaseanorectal malformationhypertensionneutropenia
✦AI Summary

PKP3 (plakophilin 3) is a desmosomal plaque protein primarily functioning in cell-cell adhesion and epithelial barrier maintenance. As a core desmosomal component, PKP3 binds desmogleins, desmocollins, plakoglobin, and desmoplakin to facilitate desmosome assembly and stability 1. PKP3 regulates localization of desmosomal proteins (DSG2, DSP, PKP2) to mature junctions and stabilizes PKP2 mRNA through FXR1 interaction, supporting structural integrity of epithelial tissues 1. Beyond adhesion, PKP3 exhibits oncogenic properties in multiple cancers. In lung adenocarcinoma, the circIGF2BP3/PKP3 axis promotes immune escape by stabilizing PD-L1 through OTUB1-mediated deubiquitination, suppressing CD8+ T cell infiltration 2. In pancreatic cancer, PKP3 drives acinar-to-ductal metaplasia and promotes progression by stabilizing FOXM1, with nuclear localization correlating with malignancy 3. PKP3 loss paradoxically increases autophagy and radioresistance in some contexts 4, while elevated PKP3 promotes ovarian cancer proliferation, invasion, and metastasis via MAPK-mTOR pathway activation 5. Clinically, PKP3 dysregulation occurs across breast, ovarian, colon, and lung cancers, with elevated expression predicting poor prognosis in PDAC 6. Loss of PKP3 causes skin diseases including paraneoplastic pemphigus and pemphigus vulgaris 6. Thus PKP3 functions dually as a structural adhesion protein and cancer-promoting oncogene.

Sources cited
1
PKP3 binds desmogleins, desmocollins, plakoglobin, and desmoplakin; fundamental desmosomal protein interactions
PMID: 12707304
2
PKP3 promotes immune escape in NSCLC by stabilizing PD-L1 mRNA through FXR1/OTUB1 axis, suppressing CD8+ T cell infiltration
PMID: 34416901
3
PKP3 drives pancreatic acinar-to-ductal metaplasia and PDAC progression by stabilizing FOXM1; elevated PKP3 predicts poor survival
PMID: 41166312
4
PKP3 loss increases autophagy and radioresistance; autophagy inhibition re-sensitizes PKP3-deficient tumors to radiotherapy
PMID: 35772211
5
PKP3 promotes ovarian cancer proliferation and invasion through MAPK-JNK-ERK1/2-mTOR pathway activation
PMID: 30527804
6
PKP3 is aberrantly expressed in multiple cancers (breast, ovarian, colon, lung) and causes skin diseases including pemphigus vulgaris and paraneoplastic pemphigus
PMID: 38048779
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.29Weak
anorectal malformationOpen Targets
0.20Weak
hypertensionOpen Targets
0.12Weak
Decreased total lymphocyte countOpen Targets
0.11Weak
Decreased total neutrophil countOpen Targets
0.11Weak
lymphopeniaOpen Targets
0.11Weak
neutropeniaOpen Targets
0.11Weak
pachyonychia congenitaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
Alopecia universalisOpen Targets
0.08Suggestive
hypotrichosis simplexOpen Targets
0.07Suggestive
Alopecia-intellectual disability syndromeOpen Targets
0.07Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
uncombable hair syndromeOpen Targets
0.07Suggestive
erythrokeratodermia variabilisOpen Targets
0.07Suggestive
ringed hair diseaseOpen Targets
0.06Suggestive
pili bifurcatiOpen Targets
0.06Suggestive
polycystic ovary syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
G3BP1Protein interaction100%EVPLProtein interaction97%PPLProtein interaction97%FXR1Protein interaction80%FMR1Protein interaction80%DSC1Protein interaction80%
Tissue Expression6 tissues
Lung
100%
Heart
8%
Liver
7%
Ovary
3%
Brain
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PKP3G3BP1EVPLPPLFXR1FMR1DSC1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9Y446
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.31LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.07 [0.88–1.31]
RankingsWhere PKP3 stands among ~20K protein-coding genes
  • #4,010of 20,598
    Most Researched118 · top quartile
  • #13,816of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedPKP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
N
PMID: 34416901
Mol Cancer · 2021
1.00
2
Defining desmosomal plakophilin-3 interactions.
PMID: 12707304
J Cell Biol · 2003
0.90
3
Induction of necroptosis in lung adenocarcinoma by miR‑10b‑5p through modulation of the PKP3/RIPK3/MLKL cascade.
PMID: 40116080
Oncol Rep · 2025
0.80
4
Role and function of plakophilin 3 in cancer progression and skin disease.
PMID: 38048779
Cancer Sci · 2024
0.70
5
Plakophilin3 loss leads to an increase in autophagy and radio-resistance.
PMID: 35772211
Biochem Biophys Res Commun · 2022
0.60