JUP junction plakoglobin

Gene ID: 3728, updated on 11-Apr-2024
Gene type: protein coding
Also known as: PG; DP3; PDGB; PKGB; CTNNG; DPIII

Summary

This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Arrhythmogenic right ventricular cardiomyopathy MedGen: C0349788GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	See labs
Arrhythmogenic right ventricular dysplasia 12 MedGen: C1969081OMIM: 611528GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	See labs
Naxos disease MedGen: C1832600OMIM: 601214GeneReviews: Not available	See labs

Genomic context

Location:: 17q21.2

Sequence:: Chromosome: 17; NC_000017.11 (41754609..41786711, complement)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for JUP variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ARVD/C Genetic Variants Database - JUP
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
JUP @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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