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Gene

JUP

junction plakoglobin

Summary

Cytogenetic location
17q21.2
Coordinates
Chromosome 17: 41,754,609–41,786,711 (GRCh38)
Exons
14 exons across 32.1 kb
Protein
745 amino acids
Also known as
DP3, PDGB, PKGB, DPIII, PG
Previous symbols
CTNNG
MANE Select transcript
ENST00000393931.8NM_002230.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Arrhythmogenic Cardiomyopathy

    • Cardioectodermal Syndromes (Naxos Disease and Carvajal Syndrome)

      A group of conditions caused by changes in JUP or DSP, including Naxos disease and Carvajal syndrome, that combine arrhythmogenic cardiomyopathy with woolly hair and thickened skin on the palms and soles.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports regular heart monitoring and arrhythmia assessment.

    • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

      Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.

  • Epidermolysis Bullosa

    • Inherited epidermolysis bullosa

      All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.

How JUP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where JUP sits. JUP and 44 genes near it on chromosome 17, from 41,270,660 to 42,270,659.Chromosome 1717q21.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.341.4 Mb41.6 Mb41.8 Mb42 Mb42.2 MbKRTAP9-7: 41,275,698–41,276,207, forward strandKRTAP9-7KRTAP29-1: 41,301,826–41,302,851, reverse strandKRTAP16-1: 41,307,700–41,309,309, reverse strandKRTAP16-1KRTAP17-1: 41,314,912–41,315,710, reverse strandKRTAP17-1KRT33A: 41,345,665–41,350,828, reverse strandKRT33AKRT33B: 41,363,498–41,369,813, reverse strandKRT33BKRT34: 41,377,669–41,382,306, reverse strandKRT34KRT31: 41,393,721–41,397,611, reverse strandKRT31KRT37: 41,420,547–41,424,585, reverse strandKRT37KRT38: 41,436,154–41,440,983, reverse strandKRT38KRT32: 41,459,513–41,467,386, reverse strandKRT32KRT35: 41,476,710–41,481,151, reverse strandKRT36: 41,486,136–41,492,546, reverse strandKRT36KRT13: 41,500,981–41,505,758, reverse strandKRT13KRT15: 41,513,745–41,522,529, reverse strandKRT15KRT19: 41,523,613–41,528,370, reverse strandKRT19KRT9: 41,565,836–41,572,059, reverse strandKRT9KRT14: 41,582,279–41,586,896, reverse strandKRT14KRT16: 41,609,778–41,615,899, reverse strandKRT16KRT17: 41,619,437–41,624,842, reverse strandKRT17EIF1: 41,688,883–41,693,623, forward strandEIF1GAST: 41,710,999–41,715,973, forward strandGASTHAP1: 41,717,742–41,734,646, reverse strandHAP1JUP: 41,754,609–41,786,711, reverse strandJUPP3H4: 41,801,944–41,812,750, reverse strandP3H4FKBP10: 41,812,079–41,823,221, forward strandFKBP10NT5C3B: 41,823,972–41,836,271, reverse strandNT5C3BKLHL10: 41,835,685–41,848,384, forward strandKLHL10KLHL11: 41,848,513–41,865,430, reverse strandACLY: 41,866,916–41,930,551, reverse strandACLYODAD4: 41,930,599–41,966,503, forward strandODAD4CNP: 41,966,729–41,977,740, forward strandCNPDNAJC7: 41,974,005–42,021,376, reverse strandDNAJC7NKIRAS2: 42,011,382–42,025,644, forward strandNKIRAS2ZNF385C: 42,025,576–42,098,479, reverse strandZNF385CC17orf113: 42,038,232–42,050,601, reverse strandC17orf113DHX58: 42,101,404–42,112,735, reverse strandDHX58KAT2A: 42,113,109–42,121,382, reverse strandKAT2A: 42,119,674–42,154,916, reverse strandHSPB9: 42,122,804–42,123,352, forward strandHSPB9RAB5C: 42,124,976–42,155,044, reverse strandKCNH4: 42,156,891–42,181,146, reverse strandHCRT: 42,184,060–42,185,452, reverse strandHCRTGHDC: 42,188,799–42,194,513, reverse strandGHDCSTAT5B: 42,199,176–42,288,633, reverse strandSTAT5BDiagram of JUP: 14 exons on the reverse strand of chromosome 17Exon 12: 2 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 4 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 14: 41,754,609–41,755,895, 1,287 basesExon 13: 41,756,175–41,756,214, 40 basesExon 12: 41,757,415–41,757,536, 122 basesExon 11: 41,757,634–41,757,784, 151 basesExon 10: 41,758,399–41,758,518, 120 basesExon 9: 41,758,715–41,758,870, 156 basesExon 8: 41,762,983–41,763,321, 339 basesExon 7: 41,764,713–41,764,816, 104 basesExon 6: 41,764,923–41,765,067, 145 basesExon 5: 41,767,379–41,767,580, 202 basesExon 4: 41,768,969–41,769,207, 239 basesExon 3: 41,769,418–41,769,677, 260 basesExon 2: 41,771,647–41,771,862, 216 basesExon 1: 41,786,588–41,786,711, 124 bases141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.5 kb of the gene's 32.1 kb; 2,238 of those bases code for the protein.

How a genome test reads JUP

39

positions in JUP where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 32.1 kb of JUP, introns included, not only the 3.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). JUP gene: junction plakoglobin. Retrieved 16 October 2026, from https://dantelabs.com/genes/jup

Vancouver

Dante Labs. JUP gene: junction plakoglobin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/jup

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