Aliases for JUP Gene
Aliases for JUP Gene
External Ids for JUP Gene
- HGNC: 6207
- Entrez Gene: 3728
- Ensembl: ENSG00000173801
- OMIM: 173325
- UniProtKB: 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 Ectoderm Differentiation and PAK Pathway. 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 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
- Monarch Initiative
- Search for JUP at DataMed
- Search for JUP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JUP Gene
Genomics for JUP Gene
GeneHancer (GH) Regulatory Elements for JUP Gene
Promoters and enhancers for JUP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around JUP on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for JUP Gene
Genomic Locations for JUP Gene
- chr17:41,754,604-41,786,931
- (GRCh38/hg38)
- Size:
- 32,328 bases
- Orientation:
- Minus strand
- chr17:39,775,692-39,943,183
- (GRCh37/hg19)
Genomic View for JUP Gene
Genes around JUP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by Ensembl
- 17q21.2 by Entrez Gene
- 17q21.2 by HGNC
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=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for JUP Gene
Post-translational modifications for JUP Gene
- May be phosphorylated by FER.
- Glycosylation at isoforms=14
Other Protein References for JUP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for JUP (CTNNG)
- Novus Biologicals Antibodies for JUP
-
Abcam antibodies for JUP
-
Cloud-Clone Corp. Antibodies for JUP
- Invitrogen Antibodies for JUP
- antibodies-online: Search results for 351 available JUP Antibodies ranked by validation data
- Compare Top JUP Antibodies
-
Recommended
- 1 IF Antibody (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 98 WB Antibodies (anti-rat)
- 2 IP Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
- 6 FACS Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 139 WB Antibodies (anti-mouse)
- 1 IHC Antibody (anti-human)
- 2 IF Antibodies (anti-human)
- 5 IP Antibodies (anti-human)
- 8 IHC (p) Antibodies (anti-human)
- 12 FACS Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 286 WB Antibodies (anti-human)
- GeneTex JUP antibody for JUP
-
Santa Cruz Biotechnology (SCBT) Antibodies for JUP
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for JUP
- Origene Custom Protein Services for JUP
-
Cloud-Clone Corp. Proteins for JUP
- Search GeneTex for Proteins for JUP
-
Abcam proteins for JUP
Assay Products
-
Cloud-Clone Corp. Assay 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:
- ProtoNet:
Suggested Antigen Peptide Sequences for JUP Gene
- GenScript: Design optimal peptide antigens:
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:0004871 | signal transducer activity | IEA | -- |
| GO:0005198 | structural molecule activity | NAS,IEA | 22889254 |
| GO:0005199 | structural constituent of cell wall | IC | 7650039 |
| GO:0005515 | protein binding | IPI | 7650039 |
Phenotypes for JUP Gene
- MGI mutant phenotypes for JUP:
-
inferred from 9 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- liver/biliary system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for JUP:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased cell migration
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Negative genetic interaction between BLM-/- and BLM+/+
Animal Models for JUP Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for JUP
-
-
ViGene Biosciences lentiviral particle packaged cDNA for JUP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for JUP gene
- Search ViGene Biosciences for JUP
CRISPR Products
-
OriGene CRISPR knockouts for JUP
- genomics-online: gRNA clones - Search results for available JUP gene related products
- Applied Biological Materials CRISPR for JUP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for JUP
- GenScript: Design CRISPR guide RNA sequences for JUP
miRNA for JUP Gene
- miRTarBase miRNAs that target JUP
miRNA Products
- Search ViGene Biosciences for JUP
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for JUP
- Browse OriGene Inhibitory RNA Products For JUP
- genomics-online: shRNA clones - Search results for available JUP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for JUP gene
Clone Products
- Sino Biological Human cDNA Clone for JUP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for JUP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for JUP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for JUP
- genomics-online: cdna clones - Search results for available JUP gene related products
- orf clones - Search results for available JUP gene related products
- Applied Biological Materials Clones for JUP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for JUP
-
ViGene Biosciences adenoviral particle packaged cDNA for JUP gene
-
ViGene Biosciences lentiviral particle packaged cDNA for JUP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for JUP gene
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 |
| extracellular | 5 |
| nucleus | 5 |
| cytoskeleton | 4 |
| cytosol | 4 |
- Cell Junctions (4)
- Plasma membrane (4)
- Vesicles (4)
| 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 | IMP,IEA | 14661054 |
| GO:0005829 | cytosol | ISS,IEA | -- |
Pathways & Interactions for JUP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell junction organization | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
| 4 | Sertoli-Sertoli Cell Junction Dynamics | ||
| 5 | Keratinization |
.33
|
|
Pathways by source for JUP Gene
2 Cell Signaling Technology pathways for JUP Gene
6 BioSystems pathways for JUP Gene
14 Reactome pathways for JUP Gene
1 PharmGKB pathway for JUP Gene
5 KEGG pathways for JUP Gene
3 GeneGo (Thomson Reuters) pathways for JUP Gene
4 Qiagen pathways for JUP Gene
Interacting Proteins for JUP Gene
Selected Interacting proteins:
P14923-PLAK_HUMAN
ENSP00000311113
for JUP Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002159 | desmosome assembly | IEA,IMP | 20859650 |
| GO:0007016 | cytoskeletal anchoring at plasma membrane | NAS | 22889254 |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0016477 | cell migration | IMP | 18937352 |
No data available for SIGNOR curated interactions for JUP Gene
Drugs & Compounds for JUP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zinc | Approved, Investigational | Pharma | Target | 2430 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for JUP Gene
mRNA/cDNA for JUP Gene
- (19) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (610) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for JUP
- genomics-online: gRNA clones - Search results for available JUP gene related products
- Applied Biological Materials CRISPR for JUP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for JUP
- GenScript: Design CRISPR guide RNA sequences for JUP
miRNA Products
- Search ViGene Biosciences for JUP
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for JUP
- Browse OriGene Inhibitory RNA Products For JUP
- genomics-online: shRNA clones - Search results for available JUP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for JUP gene
Clone Products
- Sino Biological Human cDNA Clone for JUP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for JUP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for JUP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for JUP
- genomics-online: cdna clones - Search results for available JUP gene related products
- orf clones - Search results for available JUP gene related products
- Applied Biological Materials Clones for JUP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
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| 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: |
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, PaxDb, MaxQB, and MOPED for JUP Gene
NURSA nuclear receptor signaling pathways regulating expression of JUP Gene:
JUPSOURCE GeneReport for Unigene cluster for JUP Gene:
Hs.514174Evidence on tissue expression from TISSUES for JUP Gene
- Liver(4.4)
- Lung(4.4)
- Blood(4.3)
- Pancreas(3.9)
- Heart(3.4)
- Muscle(3.4)
- Nervous system(3.4)
- Intestine(3.3)
- Skin(3.3)
- Kidney(2.6)
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
-
OriGene qPCR primer pairs for JUP
-
OriGene qPCR primer pairs and template standards for JUP
- genomics-online: primer clones - Search results for available JUP gene related products
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 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | JUP 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | JUP 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | JUP 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Jup 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Jup 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | JUP 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | JUP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | jup 33 |
|
||
| MGC75867 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2844 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100330886 33 |
|
||
| jupb 34 |
|
OneToMany | |||
| jupa 34 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9217 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | arm 35 |
|
|
|
| worm (Caenorhabditis elegans) |
Secernentea | hmp-2 35 34 |
|
||
| bar-1 35 34 |
|
- Species where no ortholog for JUP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for JUP Gene
(43) SIMAP similar genes for JUP Gene using alignment to 9 proteins:
Variants for JUP Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1056040749 | uncertain-significance, Naxos disease, Cardiomyopathy, ARVC | 41,786,634(-) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
| rs1060502677 | uncertain-significance, Arrhythmogenic right ventricular cardiomyopathy, type 12, Naxos disease | 41,758,812(-) | T/A | coding_sequence_variant, missense_variant | |
| rs1060502678 | uncertain-significance, Arrhythmogenic right ventricular cardiomyopathy, type 12, Naxos disease | 41,757,685(-) | C/G | coding_sequence_variant, missense_variant | |
| rs1060502679 | uncertain-significance, Arrhythmogenic right ventricular cardiomyopathy, type 12, Naxos disease | 41,758,803(-) | G/A/T | coding_sequence_variant, missense_variant | |
| rs1060502680 | uncertain-significance, Arrhythmogenic right ventricular cardiomyopathy, type 12, Naxos disease | 41,763,248(-) | G/A | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv575041 | CNV | gain | 21841781 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv1060502 | CNV | gain | 25217958 |
| dgv3174n100 | CNV | gain | 25217958 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JUP Gene
Disorders for JUP Gene
(30) MalaCards diseases for JUP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| naxos disease |
|
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| arrhythmogenic right ventricular dysplasia, familial, 12 |
|
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| epidermolysis bullosa, lethal acantholytic |
|
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| familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
|
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| familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
|
|
Search JUP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PLAK_HUMAN- 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 mutations affecting the gene represented in this entry.
- 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 mutations affecting the gene represented in this entry.
Additional Disease Information for JUP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
- 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 58
- 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 58
- 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 58
- Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PMID: 1889810) Arnemann J … Buxton RS (Genomics 1991) 2 3 22 58
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Sources for JUP Gene
- (1) GeneCards
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