JUP encodes junction plakoglobin (745 aa). Common junctional plaque protein. Highest expression in Skin Sun Exposed Lower leg (1,198 TPM) and Skin Not Sun Exposed Suprapubic (1,089 TPM).

Arrhythmogenic right ventricular dysplasia 12 is associated with mutations in the JUP gene on chromosome 17.

The JUP protein participates in CTNNB1, JUP bind CDH1, CDH1 translocates from ER to Golgi, and CDH11 associates with catenins pathways.

JUP is classified as a druggable target with score 0.0.

Genetic testing for JUP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia 12 has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

No clinical trials have been registered for arrhythmogenic right ventricular dysplasia 12.

90 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia 12. Research spans Epidemiology / Natural History (22%), Case Report / Case Series (18%), and Review / Meta-Analysis (16%).

Recent Publications

• Ibrahim M (2026). [PMID: 42181130](https://pubmed.ncbi.nlm.nih.gov/42181130/). *HeartRhythm Case Rep*. [Case Report / Case Series]

• Zhang Y (2026). [PMID: 42162222](https://pubmed.ncbi.nlm.nih.gov/42162222/). *Commun Med (Lond)*. [Gene Therapy / Novel Therapeutics]

• Antoun I (2026). [PMID: 41022217](https://pubmed.ncbi.nlm.nih.gov/41022217/). *Indian Pacing Electrophysiol J*. [Review / Meta-Analysis]

• Mutebi C (2026). [PMID: 41906573](https://pubmed.ncbi.nlm.nih.gov/41906573/). *JACC Case Rep*. [Case Report / Case Series]

• Martini N (2026). [PMID: 41837920](https://pubmed.ncbi.nlm.nih.gov/41837920/). *JACC Clin Electrophysiol*. [Epidemiology / Natural History]

• Davis AJ (2026). [PMID: 41557583](https://pubmed.ncbi.nlm.nih.gov/41557583/). *Eur J Prev Cardiol*. [Review / Meta-Analysis]

• Castelletti S (2026). [PMID: 42065946](https://pubmed.ncbi.nlm.nih.gov/42065946/). *J Cardiovasc Med (Hagerstown)*. [Epidemiology / Natural History]

• Proust M (2026). [PMID: 42244819](https://pubmed.ncbi.nlm.nih.gov/42244819/). *Eur Heart J Case Rep*. [Case Report / Case Series]

• Aytekin Güvenir F (2026). [PMID: 42194195](https://pubmed.ncbi.nlm.nih.gov/42194195/). *Children (Basel)*. [Epidemiology / Natural History]

• Fritzlen JT (2026). [PMID: 41546848](https://pubmed.ncbi.nlm.nih.gov/41546848/). *Curr Cardiol Rep*. [Review / Meta-Analysis]