JUP

Summary

JUP (junction plakoglobin, HGNC:6207) is a protein-coding gene on chromosome 17q21.2, encoding Junction plakoglobin (P14923). Common junctional plaque protein.

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.

Source: NCBI Gene 3728 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited epidermolysis bullosa (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 6
• Clinical variants (ClinVar): 1,508 total — 28 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 66
• Druggable target: yes
• MANE Select transcript: NM_002230

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6207
Approved symbol	JUP
Name	junction plakoglobin
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	DP3, PDGB, PKGB, DPIII, PG
Ensembl gene	ENSG00000173801
Ensembl biotype	protein_coding
OMIM	173325
Entrez	3728

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 42 protein_coding, 2 retained_intron

ENST00000310706, ENST00000393930, ENST00000393931, ENST00000420370, ENST00000424457, ENST00000437187, ENST00000437369, ENST00000449889, ENST00000465293, ENST00000585793, ENST00000589036, ENST00000591690, ENST00000885261, ENST00000885262, ENST00000885263, ENST00000885264, ENST00000885265, ENST00000885266, ENST00000885267, ENST00000885268, ENST00000885269, ENST00000885270, ENST00000885271, ENST00000885272, ENST00000885273, ENST00000885274, ENST00000885275, ENST00000885276, ENST00000885277, ENST00000885278, ENST00000918659, ENST00000918660, ENST00000918661, ENST00000918662, ENST00000918663, ENST00000918664, ENST00000918665, ENST00000918666, ENST00000918667, ENST00000918668, ENST00000955949, ENST00000955950, ENST00000955951, ENST00000955952

RefSeq mRNA: 7 — MANE Select: NM_002230 NM_001352773, NM_001352774, NM_001352775, NM_001352776, NM_001352777, NM_002230, NM_021991

CCDS: CCDS11407

Canonical transcript exons

ENST00000393931 — 14 exons

Exon	Start	End
ENSE00001516949	41754609	41755895
ENSE00002432464	41764713	41764816
ENSE00002432739	41756175	41756214
ENSE00002432842	41758399	41758518
ENSE00002438461	41762983	41763321
ENSE00002454552	41767379	41767580
ENSE00002459496	41757634	41757784
ENSE00002467727	41769418	41769677
ENSE00002478921	41764923	41765067
ENSE00002501206	41757415	41757536
ENSE00002523385	41771647	41771862
ENSE00003625989	41758715	41758870
ENSE00003788339	41768969	41769207
ENSE00003848795	41786588	41786711

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.4270 / max 2696.8525, expressed in 1670 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166046	86.8680	1657
166041	2.3376	343
166045	1.5475	707
166044	1.3723	436
166032	0.7573	207
166043	0.6986	241
166040	0.3530	197
166042	0.2469	151
166034	0.1708	105
166033	0.0346	13

Top tissues by expression

294 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.60	gold quality
skin of leg	UBERON:0001511	99.49	gold quality
skin of abdomen	UBERON:0001416	99.47	gold quality
pharyngeal mucosa	UBERON:0000355	99.41	gold quality
nipple	UBERON:0002030	99.38	gold quality
gingival epithelium	UBERON:0001949	99.31	gold quality
gingiva	UBERON:0001828	99.30	gold quality
esophagus mucosa	UBERON:0002469	99.30	gold quality
zone of skin	UBERON:0000014	99.24	gold quality
tongue squamous epithelium	UBERON:0006919	99.10	gold quality
upper arm skin	UBERON:0004263	99.08	gold quality
penis	UBERON:0000989	98.96	gold quality
mammalian vulva	UBERON:0000997	98.95	gold quality
upper leg skin	UBERON:0004262	98.92	gold quality
metanephros cortex	UBERON:0010533	98.51	gold quality
apex of heart	UBERON:0002098	98.39	gold quality
body of tongue	UBERON:0011876	98.34	gold quality
oral cavity	UBERON:0000167	98.29	gold quality
mucosa of transverse colon	UBERON:0004991	98.18	gold quality
mouth mucosa	UBERON:0003729	98.08	gold quality
esophagus squamous epithelium	UBERON:0006920	98.07	gold quality
minor salivary gland	UBERON:0001830	97.90	gold quality
renal medulla	UBERON:0000362	97.88	gold quality
squamous epithelium	UBERON:0006914	97.88	gold quality
endometrium epithelium	UBERON:0004811	97.76	gold quality
skin of hip	UBERON:0001554	97.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.72	gold quality
epithelium of esophagus	UBERON:0001976	97.69	gold quality
tongue	UBERON:0001723	97.54	gold quality
right uterine tube	UBERON:0001302	97.44	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	1288.27
E-GEOD-75688	yes	512.03
E-HCAD-1	yes	267.66
E-CURD-114	yes	55.54
E-GEOD-81547	yes	22.40
E-MTAB-8410	yes	20.94
E-MTAB-6678	yes	16.19
E-MTAB-6386	no	729.49
E-MTAB-7249	no	280.36
E-MTAB-10018	no	233.06
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, DNMT1, DNMT3A, DNMT3B, ESR1, GLI1, HNF4A, MYC, POU4F1, POU4F2, SNAI2, TP53

Literature-anchored findings (GeneRIF, showing 40)

• Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). Review. (PMID:11984022)
• stimulation of beta-catenin and suppression of gamma-catenin expression, occur within endometrial carcinomas with squamous differentiation (PMID:12068170)
• function as an inhibitor of beta-catenin/TCF-dependent gene transcription and role as a potentially novel tumor suppressor protein in a subset of human NSCLC cancers (PMID:12386812)
• heregulin/neuregulin-1 induces binding of MUC1 and gamma-catenin and targeting of the MUC1-gamma-catenin complex to the nucleolus (PMID:12939402)
• phosphorylation of Tyr549 and the increased binding of plakoglobin to components of adherens junctions can contribute to the upregulation of the transcriptional activity of the beta-catenin-Tcf-4 complex observed in many epithelial tumor cells (PMID:14517306)
• plakoglobin can activate the Wnt signaling cascade directly without interaction of beta-catenin, and that plakoglobin has multiple functions as a transcriptional activator and a cell adhesion molecule like beta-catenin (PMID:14661054)
• plakoglobin is a new target gene governed by HDAC, and it acts as an oncogene in HT1080 cells (PMID:14661058)
• show that the AML-associated translocation products (AATPs) directly activate the gamma-catenin promoter, which plays a crucial role in increasing the self-renewal of HSCs upon expression of AATPs (PMID:14739224)
• Methylation of the gamma-catenin gene is associated with renal cell carcinoma (PMID:15701841)
• The gamma-catenin mutation related to Bcl-2 overexpression has a significant effect on the pathogenesis of hormone refractory prostate cancer. (PMID:15781623)
• Loss of expression indicated a reduced survival rate in nodal-negative squamous cell carcinomas of the mouth floor (PMID:15916880)
• results show that plakoglobin acts as a tumour suppressor gene in bladder carcinoma cells and the silencing of plakoglobin gene expression in late-stage bladder cancer is a primary event in tumour progression (PMID:15942628)
• plakoglobin is differentially expressed in alveolar and embryonal rhabdomyosarcoma and its expression depends on the methylation and acetylation status of the gene (PMID:16537559)
• A dominant mutation in the gene encoding plakoglobin in a German family with Arrhythmogenic right ventricular cardiomyopathy but no cutaneous abnormalities, is reported. (PMID:17924338)
• the autocrine hGH-stimulated increases in DNMT3A and DNMT3B expression mediate repression of plakoglobin gene transcription by direct hypermethylation of its promoter and consequent phenotypic conversion of mammary carcinoma cells (PMID:17998942)
• Overexpression of gamma-catenin caused an increase in PTTG and c-Myc protein levels, which are likely to accelerate chromosomal instability and uncontrolled proliferation, respectively, in the affected cells. (PMID:18245958)
• Abnormal plakoglobin expression may be involved in the formation of some cases of Paget’s of the vulva and the breast. (PMID:18469796)
• In Wilm’s tumors,there was an absence of strong correlation between the loss of gamma-catenin and unfavorable outcome. (PMID:18568994)
• Reduced expression of E-cadherin/catenin complex in hepatocellular carcinomas. (PMID:18837082)
• different mutations in plakoglobin have markedly disparate effects on cell mechanical behavior, suggesting complex biomechanical roles for this protein. (PMID:18937352)
• Both the binding of desmocollin 3 (Dsc3) to plakoglobin and Dsc3 phosphorylation are involved in Dsc3 binding to desmoglein 3 (Dsg3) during Ca2+ -induced desmosome assembly. (PMID:19348003)
• Data show that increased association of junctional plakoglobin with N-cadherin was a distinguishing feature of LMP1-expressing cells. (PMID:19584275)
• Plakoglobin has a role in regulating the metastasis suppressor activity of Nm23. (PMID:20101217)
• Plakoglobin (PG) is required for correct maintenance of skin integrity, and the absence of heart phenotype in patients suggests that aberrant PG expression does not compromise normal human heart development in children. (PMID:20130592)
• The E-cadherin-catenin complex is the factor indicative of metastasis and disease progression in gastric cancer. (PMID:20529814)
• The study objective was to assess changes in the expressions of E-cadherin and alpha-, beta- and gamma-catenin proteins in pancreatic duct carcinoma in correlation with clinicopathological parameters, lymph node involvement and distant metastases. (PMID:20529828)
• The correlation of upregulated cellular gamma-catenin levels with higher recurrences and impaired survival suggests a tumor promoting role of gamma-catenin in colorectal cancer. (PMID:20737155)
• plakoglobin and E-cadherin recruit plakophilin3 to the cell border to initiate desmosome formation (PMID:20859650)
• Studies identified two mutations in DSG2, four in DSC2, two in DSP, four in JUP and seven in PKP2. (PMID:20864495)
• Data show that E-cadherin and alpha-catenin were predominantly expressed in the cell membranes, whereas beta- and gamma-catenin were found both in the cell membrane and cytoplasm. (PMID:20933443)
• sonic hedgehog-GLI1 downstream target genes PTCH1, Cyclin D2, Plakoglobin, PAX6 and NKX2.2 are differently regulated in medulloblastoma and astrocytoma (PMID:21059263)
• Plakoglobin rescues adhesive defects induced by ectodomain truncation of the desmosomal cadherin desmoglein 1. (PMID:21075858)
• investigation of role of gamma catenin and CBP (CREB-Binding Protein) in regulation of transcription of survivin (PMID:21158719)
• The presence of beta and gamma catenin, particularly in osteoblasts, demonstrates a significant role of catenins in functions such as signaling and activation of transcription factors during differentiation of bone tissues (PMID:21781455)
• Disease mechanisms, involving desmosomal proteins (such as plakoglobin) in granulomatous myocarditis, and implicating cytokines, are involved in the disruption of desmosomal proteins and arrhythmogenesis in arrhythmogenic right ventricular cardiomyopathy. (PMID:21859801)
• the junctional protein plakoglobin is a key regulator of cell-cell contact,which may be a fundamental control mechanism governing cell viability (PMID:22046445)
• Junction plakoglobin (JUP) interacts with SOX4 in both the cytosol and the nucleus and the interaction between SOX4 and plakoglobin is significantly increased when prostate and breast cancer cells are stimulated with WNT3A. (PMID:22098624)
• The junction plakoglobin (JUP) interacts with SOX4 in both the cytosol and the nucleus and the interaction between SOX4 and plakoglobin is significantly increased when prostate and breast cancer cells are stimulated with WNT3A. (PMID:22098624)
• Induced gene expression levels of plakoglobin, desmoglein-1 and desmoglein-2 correlated significantly with dilatation of intercellular spaces and basal cell hyperplasia in esophageal mucosa of patients with gastro-oesophageal reflux disease. (PMID:22276604)
• Lack of plakoglobin in epidermis leads to keratoderma. (PMID:22315228)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	jupb	ENSDARG00000059067
danio_rerio	jupa	ENSDARG00000070787
mus_musculus	Jup	ENSMUSG00000001552
rattus_norvegicus	Jup	ENSRNOG00000015380
drosophila_melanogaster	arm	FBGN0000117
caenorhabditis_elegans	hmp-2	WBGENE00001979

Paralogs (4): ANKAR (ENSG00000151687), ARMC3 (ENSG00000165309), CTNNB1 (ENSG00000168036), ODAD2 (ENSG00000169126)

Protein

Protein identifiers

Junction plakoglobin — P14923 (reviewed: P14923)

Alternative names: Catenin gamma, Desmoplakin III, Desmoplakin-3

All UniProt accessions (8): P14923, A0A0S2Z487, C9J826, C9JK18, C9JKY1, C9JPI2, C9JTX4, K7ERP3

UniProt curated annotations — full annotation on UniProt →

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. May promote axon outgrowth and motor fiber repair via DSP-mediated recruitment to outgrowth tips.

Subunit / interactions. 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. Identified in a complex containing at least DSP, JUP, VIM and CDH2; the complex is more abundant following crush injury in regenerating motor neurons and may promote axon outgrowth and motor fiber repair. Interacts with MUC1. Interacts with CAV1. Interacts with PTPRJ. Interacts with DSG1. Interacts with DSC1 and DSC2. Interacts with PKP2. Interacts with PKP3 (via N-terminus); the interaction is required for PKP3 localization to desmosome cell-cell junctions. Interacts with DSG4.

Subcellular location. Cell junction. Adherens junction. Desmosome. Cytoplasm. Cytoskeleton. Cell membrane. Nucleus. Cell projection. Axon.

Tissue specificity. Expressed in cardiomyocytes in the heart (at protein level).

Post-translational modifications. Cleaved by CASP3 in response to apoptosis. May be phosphorylated by FER.

Disease relevance. 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. 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. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. 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.

Similarity. Belongs to the beta-catenin family.

RefSeq proteins (7): NP_001339702, NP_001339703, NP_001339704, NP_001339705, NP_001339706, NP_002221, NP_068831 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000225	Armadillo	Repeat
IPR011989	ARM-like	Homologous_superfamily
IPR013284	Beta-catenin	Family
IPR016024	ARM-type_fold	Homologous_superfamily

Pfam: PF00514

UniProt features (83 total): helix 42, repeat 12, modified residue 6, mutagenesis site 6, sequence variant 5, turn 5, region of interest 2, sequence conflict 2, chain 1, glycosylation site 1, strand 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3IFQ	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14923-F1	80.88	0.64

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 1, 99, 125, 182, 665, 730

Glycosylation sites (1): 14

Mutagenesis-validated functional residues (6):

Position	Phenotype
14	abolishes glycosylation. does not affect binding to cdh1, dsc1 or dsg1.
19	reduces glycosylation.
21	does not affect glycosylation.
24	does not affect glycosylation.
28	does not affect glycosylation.
32	does not affect glycosylation.

Function

Pathways and Gene Ontology

Reactome pathways

20 pathways

ID	Pathway
R-HSA-418990	Adherens junctions interactions
R-HSA-5218920	VEGFR2 mediated vascular permeability
R-HSA-6798695	Neutrophil degranulation
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013406	RHOQ GTPase cycle
R-HSA-9013407	RHOH GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle
R-HSA-9762292	Regulation of CDH11 function
R-HSA-9764302	Regulation of CDH19 Expression and Function
R-HSA-9764561	Regulation of CDH1 Function
R-HSA-9766229	Degradation of CDH1
R-HSA-9768727	Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
R-HSA-9833576	CDH11 homotypic and heterotypic interactions
R-HSA-9958810	SRC activates STAT3 in a quantitative manner, through Cadherin-11 (CDH11), RAC1 and gp130 (IL6ST)
R-HSA-9958825	Activation of STAT3 by cadherin engagement

MSigDB gene sets: 629 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_BUNDLE_OF_HIS_CELL_TO_PURKINJE_MYOCYTE_COMMUNICATION, REACTOME_INNATE_IMMUNE_SYSTEM, CHIBA_RESPONSE_TO_TSA_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, MYOGENIN_Q6, MODULE_169, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, JAEGER_METASTASIS_DN, GOCC_SECRETORY_GRANULE, GOBP_NEGATIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, SP3_Q3

GO Biological Process (20): positive regulation of cell-matrix adhesion (GO:0001954), desmosome assembly (GO:0002159), cell migration (GO:0016477), regulation of cell population proliferation (GO:0042127), positive regulation of protein import into nucleus (GO:0042307), negative regulation of blood vessel endothelial cell migration (GO:0043537), skin development (GO:0043588), positive regulation of angiogenesis (GO:0045766), positive regulation of transcription by RNA polymerase II (GO:0045944), detection of mechanical stimulus (GO:0050982), canonical Wnt signaling pathway (GO:0060070), endothelial cell-cell adhesion (GO:0071603), cellular response to indole-3-methanol (GO:0071681), protein localization to plasma membrane (GO:0072659), bundle of His cell-Purkinje myocyte adhesion involved in cell communication (GO:0086073), regulation of heart rate by cardiac conduction (GO:0086091), positive regulation of canonical Wnt signaling pathway (GO:0090263), cell-cell adhesion (GO:0098609), regulation of ventricular cardiac muscle cell action potential (GO:0098911), cell adhesion (GO:0007155)

GO Molecular Function (11): transcription coactivator activity (GO:0003713), structural molecule activity (GO:0005198), nuclear receptor binding (GO:0016922), protein phosphatase binding (GO:0019903), protein homodimerization activity (GO:0042803), alpha-catenin binding (GO:0045294), cadherin binding (GO:0045296), cell adhesion molecule binding (GO:0050839), cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication (GO:0086083), cytoskeletal protein-membrane anchor activity (GO:0106006), protein binding (GO:0005515)

GO Cellular Component (25): cornified envelope (GO:0001533), extracellular region (GO:0005576), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), intermediate filament (GO:0005882), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), adherens junction (GO:0005912), zonula adherens (GO:0005915), focal adhesion (GO:0005925), cytoplasmic side of plasma membrane (GO:0009898), intercalated disc (GO:0014704), catenin complex (GO:0016342), Z disc (GO:0030018), desmosome (GO:0030057), protein-DNA complex (GO:0032993), specific granule lumen (GO:0035580), extracellular exosome (GO:0070062), gamma-catenin-TCF7L2 complex (GO:0071665), ficolin-1-rich granule lumen (GO:1904813), membrane (GO:0016020), anchoring junction (GO:0070161), catenin-TCF7L2 complex (GO:0071664)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
RHO GTPase cycle	7
Regulation of CDH1 Expression and Function	2
Cell-cell junction organization	1
VEGFA-VEGFR2 Pathway	1
Innate Immune System	1
Developmental Biology	1
Keratinization	1
Regulation of CDH11 Expression and Function	1
Regulation of Expression and Function of Type II Classical Cadherins	1
Regulation of CDH1 Function	1
Regulation of CDH11 function	1
Activation of STAT3 by cadherin engagement	1
Adherens junctions interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
positive regulation of DNA-templated transcription	2
protein binding	2
plasma membrane	2
cell-cell junction	2
regulation of cell-matrix adhesion	1
cell-matrix adhesion	1
positive regulation of cell-substrate adhesion	1
desmosome organization	1
cell-cell junction assembly	1
cell motility	1
cell population proliferation	1
regulation of cellular process	1
protein import into nucleus	1
regulation of protein import into nucleus	1
positive regulation of nucleocytoplasmic transport	1
positive regulation of intracellular protein transport	1
positive regulation of protein localization to nucleus	1
negative regulation of endothelial cell migration	1
blood vessel endothelial cell migration	1
regulation of blood vessel endothelial cell migration	1
animal organ development	1
angiogenesis	1
regulation of angiogenesis	1
positive regulation of vasculature development	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
detection of external stimulus	1
detection of abiotic stimulus	1
response to mechanical stimulus	1
Wnt signaling pathway	1
epithelial cell-cell adhesion	1
response to indole-3-methanol	1
cellular response to alcohol	1
cellular response to nitrogen compound	1
protein localization to membrane	1
protein localization to cell periphery	1
heterotypic cell-cell adhesion	1
cardiac muscle cell-cardiac muscle cell adhesion	1
bundle of His cell to Purkinje myocyte communication	1

Protein interactions and networks

STRING

3465 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JUP	DSP	P15924	993
JUP	DSG2	Q14126	978
JUP	PKP2	Q99959	977
JUP	DSC2	Q02487	941
JUP	DSC3	Q14574	920
JUP	TMEM43	Q9BTV4	913
JUP	DSG1	Q02413	900
JUP	PKP1	Q13835	886
JUP	TGFB3	P10600	855
JUP	RYR2	Q92736	805
JUP	RAB8B	Q92930	678
JUP	CDH1	P12830	638
JUP	DSC1	Q08554	636
JUP	LMNA	P02545	626
JUP	CTNNA3	Q9UI47	626

IntAct

456 interactions, top by confidence:

A	B	Type	Score
CTNNB1	AXIN1	psi-mi:“MI:0914”(association)	0.940
JUP	CTNNBIP1	psi-mi:“MI:0915”(physical association)	0.810
OAZ3	AZIN1	psi-mi:“MI:0914”(association)	0.800
FHL2	JUP	psi-mi:“MI:0915”(physical association)	0.780
JUP	FHL2	psi-mi:“MI:0915”(physical association)	0.780
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
NCK1	NCK2	psi-mi:“MI:0914”(association)	0.730
CDH1	CTNND1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
AXIN1	JUP	psi-mi:“MI:0915”(physical association)	0.670
JUP	DDX6	psi-mi:“MI:0915”(physical association)	0.660
EGFR	JUP	psi-mi:“MI:0915”(physical association)	0.650
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
NTAQ1	JUP	psi-mi:“MI:0915”(physical association)	0.620
CTNNB1	JUP	psi-mi:“MI:0914”(association)	0.610
JUP	PECAM1	psi-mi:“MI:0915”(physical association)	0.610
PECAM1	JUP	psi-mi:“MI:0914”(association)	0.610
PECAM1	JUP	psi-mi:“MI:0915”(physical association)	0.610

BioGRID (697): JUP (Two-hybrid), JUP (Affinity Capture-MS), JUP (Affinity Capture-MS), JUP (Affinity Capture-MS), JUP (Affinity Capture-Western), JUP (Affinity Capture-MS), JUP (Affinity Capture-MS), JUP (Two-hybrid), JUP (Affinity Capture-MS), JUP (Affinity Capture-MS), JUP (Affinity Capture-MS), JUP (Affinity Capture-MS), JUP (Affinity Capture-MS), JUP (Affinity Capture-MS), JUP (Two-hybrid)

ESM2 similar proteins: A2AU72, A7MB89, A7MBJ5, E9Q912, O43028, O93614, P0CM60, P0CM61, P14923, P39968, P42345, P42346, P52306, P97536, Q02257, Q04173, Q05AL1, Q2GW27, Q2KI54, Q2U5T5, Q4I1B1, Q4WVW4, Q59MN0, Q5EFZ4, Q5PPZ9, Q5R6L5, Q5R6S3, Q5VQ09, Q5W041, Q5ZM55, Q68FK4, Q6BTZ4, Q6C5Y8, Q6CX49, Q6FJV1, Q6P0K8, Q6ZQ38, Q757R0, Q7RXW1, Q86VP6

Diamond homologs: B6V8E6, F1QGH7, P14923, P18824, P26233, P30998, P35222, P35223, P35224, Q02248, Q02257, Q02453, Q0VCX4, Q17GS9, Q29I35, Q6P0K8, Q7QHW5, Q8SPJ1, Q8WNW3, Q9PVF7, Q9WU82, O44326, Q10953

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
SRC	“up-regulates activity”	JUP	phosphorylation
CTNNA3	“up-regulates quantity”	JUP	relocalization
α-Catenin	“up-regulates quantity”	JUP	relocalization
FER	“up-regulates activity”	JUP	phosphorylation
FER	“down-regulates activity”	JUP	phosphorylation
FYN	“up-regulates activity”	JUP	phosphorylation
FYN	“down-regulates activity”	JUP	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 184 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Constitutive Signaling by EGFRvIII	5	28.8×	1e-04
Signaling by ERBB2 ECD mutants	5	27.1×	1e-04
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants	5	23.0×	2e-04
Signaling by ERBB2 KD Mutants	6	20.5×	1e-04
SHC1 events in ERBB2 signaling	5	19.2×	3e-04
Signaling by ERBB2 TMD/JMD mutants	5	19.2×	3e-04
Downstream signal transduction	6	18.4×	1e-04
Adherens junctions interactions	7	14.0×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
adherens junction organization	7	23.4×	8e-06
cell-cell adhesion mediated by cadherin	7	18.8×	2e-05
ephrin receptor signaling pathway	7	15.7×	5e-05
calcium-dependent cell-cell adhesion	5	15.7×	2e-03
cell-cell junction assembly	5	14.5×	2e-03
epidermal growth factor receptor signaling pathway	8	13.0×	4e-05
negative regulation of cell adhesion	5	12.5×	4e-03
insulin receptor signaling pathway	7	10.1×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

1508 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	28
Likely pathogenic	10
Uncertain significance	714
Likely benign	509
Benign	41

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070039	NM_002230.4(JUP):c.532_542del (p.Ala178fs)	Pathogenic
1073656	NM_002230.4(JUP):c.781_796del (p.Lys261fs)	Pathogenic
13599	NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)	Pathogenic
1363212	NM_002230.4(JUP):c.2039G>A (p.Trp680Ter)	Pathogenic
1398158	NM_002230.4(JUP):c.1870G>T (p.Glu624Ter)	Pathogenic
1407835	NM_002230.4(JUP):c.654del (p.Leu219fs)	Pathogenic
1452523	NM_002230.4(JUP):c.222C>G (p.Tyr74Ter)	Pathogenic
1459599	NM_002230.4(JUP):c.1639C>T (p.Gln547Ter)	Pathogenic
2078437	NM_002230.4(JUP):c.687del (p.Ala230fs)	Pathogenic
212748	NM_002230.4(JUP):c.71C>A (p.Ser24Ter)	Pathogenic
212750	NM_002230.4(JUP):c.1615C>T (p.Gln539Ter)	Pathogenic
2195974	NM_002230.4(JUP):c.1876dup (p.Ala626fs)	Pathogenic
2922001	NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)	Pathogenic
2923231	NM_002230.4(JUP):c.1205_1206del (p.Val402fs)	Pathogenic
2929876	NM_002230.4(JUP):c.873C>A (p.Cys291Ter)	Pathogenic
2953146	NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)	Pathogenic
3757877	NM_002230.4(JUP):c.49C>T (p.Gln17Ter)	Pathogenic
3759559	NM_002230.4(JUP):c.1126del (p.Leu376fs)	Pathogenic
3760243	NM_002230.4(JUP):c.1843A>T (p.Lys615Ter)	Pathogenic
4086103	NM_002230.4(JUP):c.910-1G>C	Pathogenic
4531651	NM_002230.4(JUP):c.1784del (p.Ser595fs)	Pathogenic
4531653	NM_002230.4(JUP):c.201del (p.Ser68fs)	Pathogenic
464030	NM_002230.4(JUP):c.188del (p.Gln63fs)	Pathogenic
4787325	NM_002230.4(JUP):c.1852del (p.Ala618fs)	Pathogenic
641938	NM_002230.4(JUP):c.1807del (p.Val603fs)	Pathogenic
659497	NM_002230.4(JUP):c.1455_1462del (p.Val486fs)	Pathogenic
831627	NC_000017.11:g.(?41771637)(41771864_?)del	Pathogenic
857898	NM_002230.4(JUP):c.545C>A (p.Ser182Ter)	Pathogenic
1067032	NM_002230.4(JUP):c.1158+1G>T	Likely pathogenic
1677681	NM_002230.4(JUP):c.1130_1131del (p.Arg377fs)	Likely pathogenic

SpliceAI

2138 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41755728:A:AC	donor_gain	1.0000
17:41755729:C:CC	donor_gain	1.0000
17:41755746:AGG:A	donor_gain	1.0000
17:41755891:CATGT:C	acceptor_gain	1.0000
17:41755893:TGT:T	acceptor_gain	1.0000
17:41755894:GT:G	acceptor_gain	1.0000
17:41755894:GTCTG:G	acceptor_loss	1.0000
17:41755896:C:CC	acceptor_gain	1.0000
17:41755896:CTGG:C	acceptor_loss	1.0000
17:41756170:CTTA:C	donor_loss	1.0000
17:41756171:TTACC:T	donor_loss	1.0000
17:41756174:CCAT:C	donor_gain	1.0000
17:41756215:C:CA	acceptor_loss	1.0000
17:41756215:C:CC	acceptor_gain	1.0000
17:41756216:T:C	acceptor_loss	1.0000
17:41757409:A:AC	donor_gain	1.0000
17:41757410:C:CC	donor_gain	1.0000
17:41757413:A:AC	donor_gain	1.0000
17:41757413:ACAG:A	donor_gain	1.0000
17:41757413:ACAGC:A	donor_gain	1.0000
17:41757414:C:CC	donor_gain	1.0000
17:41757414:CA:C	donor_gain	1.0000
17:41757414:CAG:C	donor_gain	1.0000
17:41757414:CAGC:C	donor_gain	1.0000
17:41757414:CAGCC:C	donor_gain	1.0000
17:41757532:GGTGG:G	acceptor_gain	1.0000
17:41757533:GTGG:G	acceptor_gain	1.0000
17:41757534:TGG:T	acceptor_gain	1.0000
17:41757535:GG:G	acceptor_gain	1.0000
17:41757535:GGC:G	acceptor_loss	1.0000

AlphaMissense

4866 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41757421:C:A	W680C	1.000
17:41757421:C:G	W680C	1.000
17:41757423:A:G	W680R	1.000
17:41757423:A:T	W680R	1.000
17:41757458:A:G	L668P	1.000
17:41757458:A:T	L668H	1.000
17:41757468:A:G	S665P	1.000
17:41757493:C:A	K656N	1.000
17:41757493:C:G	K656N	1.000
17:41757504:A:G	S653P	1.000
17:41757509:C:G	R651P	1.000
17:41757511:G:C	F650L	1.000
17:41757511:G:T	F650L	1.000
17:41757512:A:G	F650S	1.000
17:41757513:A:G	F650L	1.000
17:41757513:A:T	F650I	1.000
17:41757515:A:G	L649P	1.000
17:41757515:A:T	L649Q	1.000
17:41757518:A:T	V648D	1.000
17:41757521:G:T	A647D	1.000
17:41757522:C:G	A647P	1.000
17:41757524:G:T	A646D	1.000
17:41757525:C:G	A646P	1.000
17:41757527:G:T	A645D	1.000
17:41757528:C:G	A645P	1.000
17:41757531:A:G	Y644H	1.000
17:41757536:G:T	A642D	1.000
17:41757634:C:G	A642P	1.000
17:41757657:A:G	L634P	1.000
17:41757669:A:G	L630P	1.000

dbSNP variants (sampled 300 via entrez): RS1000393712 (17:41788617 A>G), RS1000500865 (17:41775688 T>C), RS1000639407 (17:41782870 C>T), RS1000723393 (17:41786909 C>G,T), RS1000846729 (17:41754252 C>A,T), RS1001149713 (17:41765333 G>C), RS1001194774 (17:41783788 A>G,T), RS1001245731 (17:41783659 G>A), RS1001453362 (17:41759011 A>G), RS1001537397 (17:41756578 G>A), RS1001639602 (17:41761456 T>C), RS1001670683 (17:41761701 C>T), RS1001897659 (17:41755525 C>T), RS1001965478 (17:41756669 C>T), RS1001971673 (17:41760093 G>A,T)

Disease associations

OMIM: gene MIM:173325 | disease phenotypes: MIM:601214, MIM:611528, MIM:192600, MIM:603829, MIM:194200, MIM:604169, MIM:115200, MIM:115080

GenCC curated gene-disease

Disease	Classification	Inheritance
inherited epidermolysis bullosa	Strong	Autosomal recessive
Naxos disease	Strong	Autosomal recessive
arrhythmogenic right ventricular dysplasia 12	Strong	Autosomal dominant
lethal acantholytic epidermolysis bullosa	Supportive	Autosomal recessive

Mondo (17): Naxos disease (MONDO:0011017), arrhythmogenic right ventricular dysplasia 12 (MONDO:0012684), cardiomyopathy (MONDO:0004994), familial hypertrophic cardiomyopathy (MONDO:0024573), ventricular fibrillation, paroxysmal familial, type 1 (MONDO:0011376), dilated cardiomyopathy (MONDO:0005021), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587), cardiac rhythm disease (MONDO:0007263), Wolff-Parkinson-White syndrome (MONDO:0008685), long QT syndrome (MONDO:0002442), hypertrophic cardiomyopathy (MONDO:0005045), left ventricular noncompaction (MONDO:0018901), familial dilated cardiomyopathy (MONDO:0016333), left ventricular noncompaction 1 (MONDO:0011403), cardiac conduction defect (MONDO:0100042)

Orphanet (12): Naxos disease (Orphanet:34217), Rare cardiomyopathy (Orphanet:167848), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Idiopathic ventricular fibrillation (Orphanet:228140), Dilated cardiomyopathy (Orphanet:217604), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Rare hypertrophic cardiomyopathy (Orphanet:217569), Left ventricular noncompaction (Orphanet:54260), Familial dilated cardiomyopathy (Orphanet:217607), Hereditary progressive cardiac conduction defect (Orphanet:871), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155), NON RARE IN EUROPE: Wolff-Parkinson-White syndrome (Orphanet:907)

HPO phenotypes

66 total (30 of 66 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000175	Cleft palate
HP:0000204	Cleft upper lip
HP:0000377	Abnormal pinna morphology
HP:0000561	Absent eyelashes
HP:0000695	Natal tooth
HP:0000924	Abnormality of the skeletal system
HP:0000956	Acanthosis nigricans
HP:0000962	Hyperkeratosis
HP:0000975	Hyperhidrosis
HP:0000982	Palmoplantar keratoderma
HP:0001030	Fragile skin
HP:0001233	2-3 finger cutaneous syndactyly
HP:0001279	Syncope
HP:0001511	Intrauterine growth retardation
HP:0001562	Oligohydramnios
HP:0001627	Abnormal heart morphology
HP:0001635	Congestive heart failure
HP:0001638	Cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001699	Sudden death
HP:0001802	Absent toenail
HP:0001806	Onycholysis
HP:0001817	Absent fingernail
HP:0001836	Camptodactyly of toe
HP:0001962	Palpitations
HP:0002209	Sparse scalp hair

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST006288_287	Heel bone mineral density	4.000000e-10
GCST006288_54	Heel bone mineral density	5.000000e-06
GCST006979_816	Heel bone mineral density	3.000000e-15
GCST007445_47	Factor VIII levels	2.000000e-06
GCST007446_84	vWF levels	6.000000e-14
GCST012305_27	Major depressive disorder x sex interaction	5.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004630	factor VIII measurement
EFO:0008343	sex interaction measurement

MeSH disease descriptors (12)

Descriptor	Name	Tree numbers
D019571	Arrhythmogenic Right Ventricular Dysplasia	C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D024741	Cardiomyopathy, Hypertrophic, Familial	C14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D014927	Wolff-Parkinson-White Syndrome	C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980
C566925	Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 (supp.)
C535493	Epidermolysis bullosa, lethal acantholytic (supp.)
C538346	Naxos disease (supp.)
C567851	Ventricular Fibrillation, Paroxysmal Familial, 1 (supp.)
C536231	familial dilated cardiomyopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066271 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

98 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression, decreases methylation, increases expression	5
sodium arsenite	affects cotreatment, increases expression, decreases expression	4
Tetrachlorodibenzodioxin	increases expression	4
Particulate Matter	increases abundance, increases expression, affects cotreatment, decreases expression	4
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
Cyclosporine	decreases expression, increases expression	3
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation, decreases expression, increases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	2
bisphenol S	decreases methylation, affects cotreatment, decreases expression	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
Decitabine	affects reaction, increases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
Cadmium	increases palmitoylation, affects binding, decreases reaction, increases abundance	2
Estradiol	affects cotreatment, decreases expression	2
Lipopolysaccharides	decreases expression, affects expression, affects response to substance, affects cotreatment	2
Tretinoin	affects cotreatment, increases expression	2
Valproic Acid	increases expression, decreases expression	2
Genistein	decreases expression	2
aristolochic acid I	increases expression	1
afuresertib	increases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
deoxynivalenol	decreases expression	1
lead acetate	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
pyrogallol 1,3-dimethyl ether	increases expression, affects cotreatment, affects localization, decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651657	Binding	Binding affinity to human JUP incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2ZJ	Abcam HEK293T JUP KO	Transformed cell line	Female
CVCL_D6KN	JMUi001-A-4	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

305 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00170183	PHASE3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	PHASE3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	PHASE3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197	PHASE3	UNKNOWN	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321	PHASE3	UNKNOWN	VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028	PHASE3	COMPLETED	Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT01013714	PHASE3	UNKNOWN	Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827	PHASE3	COMPLETED	Implantable Cardioverter-Defibrillator Use in the VA System
NCT01648634	PHASE3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02924285	PHASE3	COMPLETED	Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935	PHASE3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331	PHASE3	COMPLETED	Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066	PHASE3	COMPLETED	Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT06158698	PHASE3	RECRUITING	CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895	PHASE3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086	PHASE3	RECRUITING	Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473	PHASE3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT01294241	PHASE2	COMPLETED	Oleogel-S10 in Wound Healing of Inherited Epidermolysis Bullosa (BEB-10)
NCT03468322	PHASE2	COMPLETED	A Double-blind, Intra-individual Comparison, POC Trial of AC-203 in EB Patients
NCT05651607	PHASE2	COMPLETED	Evaluation of the Efficacy of CANNABIDIOL on the Pruritus in Children With Hereditary Epidermolysis Bullosa