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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
External Ids for JUP Gene
- HGNC: 6207
- NCBI Entrez Gene: 3728
- Ensembl: ENSG00000173801
- OMIM®: 173325
- UniProtKB/Swiss-Prot: P14923
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
-
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).
Additional gene information 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
- 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
Genomic View for JUP Gene
Genes around JUP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by HGNC
- 17q21.2 by Entrez Gene
- 17q21.2 by Ensembl
JUP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for JUP Gene
Post-translational modifications for JUP Gene
Other Protein References for JUP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences JUP/CTNNG/Junction Plakoglobin Antibody and JUP/CTNNG/Junction Plakoglobin Monoclonal Antibody
- Novus Biologicals Antibodies for JUP
-
Abcam antibodies for JUP
- Invitrogen Antibodies for JUP (AFLGC-JUP)
- antibodies-online: Show 324 available JUP Antibodies ranked by validation data
- Compare Top JUP Antibodies
-
Recommended
- 357 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 12 FACS Antibodies (anti-human)
- 7 IHC (p) Antibodies (anti-human)
- 6 IF Antibodies (anti-human)
- 6 IP Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 126 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 6 IP Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
- 3 IF Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 166 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 6 FACS Antibodies (anti-mouse)
- 6 IF Antibodies (anti-mouse)
- 2 IP Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
-
Custom Antibody ServicesProSci Antibodies for JUP
-
Santa Cruz Biotechnology (SCBT) Antibodies for JUP
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for JUP
- Origene Custom Protein Services for JUP
- antibodies-online: Show 6 available JUP Proteins ranked by validation data
- Compare Top JUP Proteins
-
Abcam proteins for JUP
Assay products for research
-
Boster Bio ELISA Kits for JUP
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
P14923UniProtKB/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.
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
| 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 |
Phenotypes for JUP Gene
- MGI mutant phenotypes for JUP:
-
inferred from 9 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- limbs/digits/tail phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for JUP:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance
- Increased NF-kappaB reporter expression
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability in colon lineage
- Increased shRNA abundance (Z-score > 2)
- Decreased cell migration
- Decreased cell spreading
Animal Models for JUP Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for JUP - Starting at $85 >
- * JUP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for JUP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JUP
-
Santa Cruz Biotechnology (SCBT) CRISPR for JUP
miRNA for JUP Gene
- miRTarBase miRNAs that target JUP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for JUP
- Browse OriGene Inhibitory RNA Products For JUP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JUP
Clone products for research
- Applied Biological Materials (abm): Clones for JUP - Starting at $45 >
- * JUP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for JUP
- Addgene plasmids for JUP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JUP
Cell Lines for research
-
Horizon Cell Lines 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.
| 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 |
- Cell Junctions (4)
- Plasma membrane (3)
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for JUP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell junction organization | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Arrhythmogenic right ventricular cardiomyopathy | ||
| 4 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
|
Sertoli-Sertoli Cell Junction Dynamics
.38
|
| 5 | Keratinization |
.33
|
|
Pathways by source for JUP Gene
6 BioSystems pathways for JUP Gene
14 Reactome pathways for JUP Gene
1 PharmGKB pathway 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
Interacting Proteins for JUP Gene
Selected Interacting proteins:
P14923-PLAK_HUMAN
ENSP00000377508
for JUP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for JUP
| 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 | -- |
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 :
-
- ENST00000310706 3200 nts (view in UCSC)
- ENST00000393930 3298 nts (view in UCSC)
- ENST00000393931 3505 nts (view in UCSC)
- ENST00000420370 915 nts (view in UCSC)
- ENST00000424457 949 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for JUP - Starting at $85 >
- * JUP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for JUP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JUP
-
Santa Cruz Biotechnology (SCBT) CRISPR for JUP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for JUP
- Browse OriGene Inhibitory RNA Products For JUP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JUP
Clone products for research
- Applied Biological Materials (abm): Clones for JUP - Starting at $45 >
- * JUP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for JUP
- Addgene plasmids for JUP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JUP
| 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 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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JUP
SOURCE GeneReport for Unigene cluster for JUP Gene:
Hs.514174Evidence 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
Primer products for research
-
OriGene qPCR primer pairs for JUP
-
OriGene qPCR primer pairs and template standards for JUP
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | JUP 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | JUP 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | JUP 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | JUP 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Jup 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Jup 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| -- 30 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | JUP 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | JUP 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | jup 29 |
|
||
| MGC75867 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2844 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100330886 29 |
|
||
| jupb 30 |
|
OneToMany | |||
| jupa 30 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9217 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | arm 31 |
|
|
|
| Worm (Caenorhabditis elegans) |
Secernentea | hmp-2 30 31 |
|
OneToMany | |
| bar-1 30 31 |
|
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
(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
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3174n100 | CNV | gain | 25217958 |
| nsv1060502 | CNV | gain | 25217958 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv575041 | CNV | gain | 21841781 |
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
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| naxos disease |
|
|
| arrhythmogenic right ventricular dysplasia, familial, 12 |
|
|
| epidermolysis bullosa, lethal acantholytic |
|
|
| familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
|
|
| familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
|
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
No data available for Genatlas for JUP Gene
Publications for JUP Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
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Sources for JUP Gene
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