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 g... See more...

Aliases for JUP Gene

Aliases for JUP Gene

  • Junction Plakoglobin 2 3 4 5
  • DP3 2 3 4
  • Catenin (Cadherin-Associated Protein), Gamma 80kDa 2 3
  • Desmosomal Protein 3 2 3
  • Desmoplakin III 3 4
  • Desmoplakin-3 3 4
  • CTNNG 3 4
  • DPIII 2 3
  • PDGB 2 3
  • PKGB 2 3
  • PG 2 3
  • Catenin Gamma 4
  • JUP 5

External Ids for JUP Gene

Previous HGNC Symbols for JUP Gene

  • CTNNG

Previous GeneCards Identifiers for JUP Gene

  • GC17M039465
  • GC17M041960
  • GC17M039820
  • GC17M040284
  • GC17M037164
  • GC17M039910
  • GC17M035672
  • GC17M039776

Summaries for JUP Gene

Entrez Gene Summary for JUP Gene

  • 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]

GeneCards Summary for JUP Gene

JUP (Junction Plakoglobin) is a Protein Coding gene. Diseases associated with JUP include Naxos Disease and Arrhythmogenic Right Ventricular Dysplasia, Familial, 12. Among its related pathways are Cell junction organization and RET signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase binding. An important paralog of this gene is CTNNB1.

UniProtKB/Swiss-Prot Summary for JUP Gene

  • Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).

Gene Wiki entry for JUP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JUP Gene

Genomics for JUP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for JUP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J041781 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 335.7 +2.3 2333 6.8 SP1 NCOR1 MYC ZNF600 IKZF1 ZNF592 KLF9 ZNF10 POLR2A NFIC JUP P3H4 HSD17B1 ENSG00000267765 KAT2A PLEKHH3 EZH1 NT5C3B ODAD4 TUBG2
GH17J041791 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 93.8 -7.3 -7273 5.1 NCOR1 IKZF1 ZNF600 ZNF580 ZNF592 CEBPA JUND BRCA1 ZIC2 CEBPB HSALNG0116461 JUP NT5C3B KLHL11 KRT15 ENSG00000267632 TUBG2 ACLY KRT19 KRT16
GH17J041798 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 39.4 -13.6 -13570 3.5 ZNF654 MYC IKZF1 SSRP1 POLR2A CTCF REST DEK TRIM22 SIX4 HSALNG0116462 JUP NT5C3B ENSG00000267758 KLHL11 KLHL10 RETREG3 STAT5A HSD17B1-AS1 CNP
GH17J041790 Enhancer 0.4 dbSUPER 85.7 -4.0 -4019 0.8 ZBTB33 ZNF362 ZSCAN4 SCRT2 HSALNG0116461 JUP piR-31943 FKBP10
GH17J041736 Promoter/Enhancer 1.8 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 +48.2 48218 5 ZNF654 MYC ZNF580 ZNF592 ZMYM3 ATF2 KLF9 CEBPA ZNF10 YY1 HAP1 JUP GAST FKBP10 P3H4 KLHL11 KAT2A HSALNG0116457
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JUP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JUP

Top Transcription factor binding sites by QIAGEN in the JUP gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • HOXA5
  • p53

Genomic Locations for JUP Gene

Latest Assembly
chr17:41,754,604-41,786,931
(GRCh38/hg38)
Size:
32,328 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,910,861-39,942,963
(GRCh37/hg19 by Entrez Gene)
Size:
32,103 bases
Orientation:
Minus strand

chr17:39,775,692-39,943,183
(GRCh37/hg19 by Ensembl)
Size:
167,492 bases
Orientation:
Minus strand

Genomic View for JUP Gene

Genes around JUP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JUP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JUP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JUP Gene

Proteins for JUP Gene

  • Protein details for JUP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14923-PLAK_HUMAN
    Recommended name:
    Junction plakoglobin
    Protein Accession:
    P14923
    Secondary Accessions:
    • Q15093
    • Q15151
    • Q7L3S5
    • Q86W21
    • Q9BWC4
    • Q9HCX9

    Protein attributes for JUP Gene

    Size:
    745 amino acids
    Molecular mass:
    81745 Da
    Quaternary structure:
    • Homodimer. Component of an E-cadherin/catenin adhesion complex composed of at least E-cadherin/CDH1 and gamma-catenin/JUP, and possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex. Interacts with MUC1. Interacts with CAV1 (By similarity). Interacts with PTPRJ. Interacts with DSG1. Interacts with DSC1 and DSC2. Interacts with PKP2.
    SequenceCaution:
    • Sequence=AAH00441.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for JUP Gene

neXtProt entry for JUP Gene

Post-translational modifications for JUP Gene

  • May be phosphorylated by FER.
  • Glycosylation at Thr14, Asn195, Asn211, Asn321, and Asn378
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

No data available for DME Specific Peptides for JUP Gene

Domains & Families for JUP Gene

Gene Families for JUP Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for JUP Gene

InterPro:
Blocks:
  • HEAT repeat
  • Armadillo repeat

Suggested Antigen Peptide Sequences for JUP Gene

GenScript: Design optimal peptide antigens:
  • Desmoplakin-3 (PLAK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14923

UniProtKB/Swiss-Prot:

PLAK_HUMAN :
  • The entire ARM repeats region mediates binding to CDH1/E-cadherin. The N-terminus and first three ARM repeats are sufficient for binding to DSG1. The N-terminus and first ARM repeat are sufficient for association with CTNNA1. DSC1 association requires both ends of the ARM repeat region.
  • Belongs to the beta-catenin family.
Domain:
  • The entire ARM repeats region mediates binding to CDH1/E-cadherin. The N-terminus and first three ARM repeats are sufficient for binding to DSG1. The N-terminus and first ARM repeat are sufficient for association with CTNNA1. DSC1 association requires both ends of the ARM repeat region.
Family:
  • Belongs to the beta-catenin family.
genes like me logo Genes that share domains with JUP: view

Function for JUP Gene

Molecular function for JUP Gene

UniProtKB/Swiss-Prot Function:
Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).

Phenotypes From GWAS Catalog for JUP Gene

Gene Ontology (GO) - Molecular Function for JUP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IDA 14661054
GO:0005198 structural molecule activity IEA,NAS 22889254
GO:0005515 protein binding IEA,IPI 7650039
GO:0019901 protein kinase binding IEA --
GO:0019903 protein phosphatase binding IBA,IPI 8663237
genes like me logo Genes that share ontologies with JUP: view
genes like me logo Genes that share phenotypes with JUP: view

Human Phenotype Ontology for JUP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JUP Gene

MGI Knock Outs for JUP:
  • Jup Jup<tm1Ruiz>
  • Jup Jup<tm1Kem>
  • Jup Jup<tm1.1(KOMP)Vlcg>
  • Jup Jup<tm1.2Glr>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JUP

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for JUP Gene

Localization for JUP Gene

Subcellular locations from UniProtKB/Swiss-Prot for JUP Gene

Cell junction, adherens junction. Cell junction, desmosome. Cytoplasm, cytoskeleton. Membrane. Peripheral membrane protein. Note=Cytoplasmic in a soluble and membrane-associated form.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JUP gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 4
cytoskeleton 4
cytosol 4
endoplasmic reticulum 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Plasma membrane (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for JUP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IMP 14661054
GO:0005737 cytoplasm IEA,IMP 14661054
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with JUP: view

Pathways & Interactions for JUP Gene

genes like me logo Genes that share pathways with JUP: view

Pathways by source for JUP Gene

3 GeneGo (Thomson Reuters) pathways for JUP Gene
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
4 Qiagen pathways for JUP Gene
  • Epithelial Adherens Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Internalin Pathway
  • Sertoli-Sertoli Cell Junction Dynamics
2 Cell Signaling Technology pathways for JUP Gene

SIGNOR curated interactions for JUP Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for JUP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion IGI 28115160
GO:0002159 desmosome assembly IEA,IMP 20859650
GO:0007155 cell adhesion IEA --
GO:0016477 cell migration IMP 18937352
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with JUP: view

Drugs & Compounds for JUP Gene

(13) Drugs for JUP Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0

(9) Additional Compounds for JUP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with JUP: view

Transcripts for JUP Gene

mRNA/cDNA for JUP Gene

7 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JUP

Alternative Splicing Database (ASD) splice patterns (SP) for JUP Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - - -
SP3:
SP4: - - - - - - - - - - - - -
SP5: -
SP6: - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - -
SP9: - - - - -
SP10: - -
SP11: - - - - - -
SP12: - - -
SP13: - - - - - - -

ExUns: 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for JUP Gene

GeneLoc Exon Structure for
JUP

Expression for JUP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for JUP Gene

mRNA differential expression in normal tissues according to GTEx for JUP Gene

This gene is overexpressed in Esophagus - Mucosa (x8.9), Skin - Sun Exposed (Lower leg) (x8.6), and Skin - Not Sun Exposed (Suprapubic) (x7.6).

Protein differential expression in normal tissues from HIPED for JUP Gene

This gene is overexpressed in Saliva (11.4), Heart (6.9), and Esophagus (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for JUP Gene



Protein tissue co-expression partners for JUP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JUP

SOURCE GeneReport for Unigene cluster for JUP Gene:

Hs.514174

Evidence on tissue expression from TISSUES for JUP Gene

  • Lung(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Pancreas(4.1)
  • Nervous system(3.9)
  • Intestine(3.7)
  • Muscle(3.5)
  • Heart(3.4)
  • Skin(3.4)
  • Kidney(3.2)
  • Stomach(2.3)
  • Thyroid gland(2.2)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JUP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Thorax:
  • heart
  • heart valve
  • lung
Pelvis:
  • penis
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with JUP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for JUP Gene

Orthologs for JUP Gene

This gene was present in the common ancestor of animals.

Orthologs for JUP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia JUP 29 30
  • 99.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia JUP 30
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia JUP 29 30
  • 92.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia JUP 29 30
  • 91.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Jup 29
  • 89.98 (n)
Mouse
(Mus musculus)
Mammalia Jup 29 16 30
  • 89.62 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 86 (a)
OneToMany
-- 30
  • 81 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
Chicken
(Gallus gallus)
Aves JUP 29 30
  • 85.2 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia JUP 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia jup 29
  • 75.82 (n)
MGC75867 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.2844 29
Zebrafish
(Danio rerio)
Actinopterygii LOC100330886 29
  • 72.01 (n)
jupb 30
  • 71 (a)
OneToMany
jupa 30
  • 70 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9217 29
Fruit Fly
(Drosophila melanogaster)
Insecta arm 31
  • 65 (a)
Worm
(Caenorhabditis elegans)
Secernentea hmp-2 30 31
  • 31 (a)
OneToMany
bar-1 30 31
  • 19 (a)
OneToMany
Species where no ortholog for JUP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for JUP Gene

ENSEMBL:
Gene Tree for JUP (if available)
TreeFam:
Gene Tree for JUP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for JUP: view image
Alliance of Genome Resources:
Additional Orthologs for JUP

Paralogs for JUP Gene

Paralogs for JUP Gene

(43) SIMAP similar genes for JUP Gene using alignment to 9 proteins:

  • PLAK_HUMAN
  • C9J826_HUMAN
  • C9JK18_HUMAN
  • C9JKY1_HUMAN
  • C9JPI2_HUMAN
  • C9JTX4_HUMAN
  • F5GWP8_HUMAN
  • K7ERP3_HUMAN
  • L8EAA6_HUMAN
genes like me logo Genes that share paralogs with JUP: view

Variants for JUP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JUP Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1001832 Uncertain Significance: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 41,763,172(-) C/A
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp)
MISSENSE
1003551 Uncertain Significance: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 41,769,512(-) G/A
NM_002230.4(JUP):c.374C>T (p.Ser125Leu)
MISSENSE
1004197 Uncertain Significance: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 41,757,675(-) G/A
NM_002230.4(JUP):c.1883C>T (p.Ala628Val)
MISSENSE
1007590 Uncertain Significance: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 41,763,134(-) T/A
NM_002230.4(JUP):c.1346A>T (p.Asp449Val)
MISSENSE
1011250 Uncertain Significance: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 41,762,998(-) C/G
NM_002230.4(JUP):c.1482G>C (p.Gln494His)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for JUP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for JUP Gene

Variant ID Type Subtype PubMed ID
dgv3174n100 CNV gain 25217958
nsv1060502 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv575041 CNV gain 21841781

Variation tolerance for JUP Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.20; 61.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JUP Gene

Human Gene Mutation Database (HGMD)
JUP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JUP
Leiden Open Variation Database (LOVD)
JUP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JUP Gene

Disorders for JUP Gene

MalaCards: The human disease database

(41) MalaCards diseases for JUP Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
naxos disease
  • nxd
arrhythmogenic right ventricular dysplasia, familial, 12
  • arvd12
epidermolysis bullosa, lethal acantholytic
  • ebla
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
- elite association - COSMIC cancer census association via MalaCards
Search JUP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLAK_HUMAN
  • Naxos disease (NXD) [MIM:601214]: An autosomal recessive disorder characterized by the association of diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia. {ECO:0000269 PubMed:10902626}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:17924338, ECO:0000269 PubMed:20031617}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for JUP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with JUP: view

No data available for Genatlas for JUP Gene

Publications for JUP Gene

  1. Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 20031617) den Haan AD … Judge DP (Circulation. Cardiovascular genetics 2009) 3 4 22 40
  2. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. (PMID: 17924338) Asimaki A … McKenna WJ (American journal of human genetics 2007) 3 4 22 72
  3. Plakoglobin is O-glycosylated close to the N-terminal destruction box. (PMID: 12847106) Hatsell S … Cowin P (The Journal of biological chemistry 2003) 3 4 22
  4. Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription. (PMID: 14517306) Miravet S … García de Herreros A (Molecular and cellular biology 2003) 3 4 22
  5. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (PMID: 10902626) McKoy G … McKenna WJ (Lancet (London, England) 2000) 3 4 72

Products for JUP Gene

  • Addgene plasmids for JUP

Sources for JUP Gene