DSG2

Summary

DSG2 (desmoglein 2, HGNC:3049) is a protein-coding gene on chromosome 18q12.1, encoding Desmoglein-2 (Q14126). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion.

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10.

Source: NCBI Gene 1829 — RefSeq curated summary.

At a glance

• Gene–disease (curated): arrhythmogenic right ventricular cardiomyopathy (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 2,107 total — 58 pathogenic, 58 likely-pathogenic
• Phenotypes (HPO): 37
• Dosage sensitivity (ClinGen): haploinsufficiency emerging evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001943

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3049
Approved symbol	DSG2
Name	desmoglein 2
Location	18q12.1
Locus type	gene with protein product
Status	Approved
Aliases	CDHF5
Ensembl gene	ENSG00000046604
Ensembl biotype	protein_coding
OMIM	125671
Entrez	1829

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 20 protein_coding, 7 nonsense_mediated_decay, 3 retained_intron

ENST00000261590, ENST00000585206, ENST00000682087, ENST00000682241, ENST00000683614, ENST00000683654, ENST00000684461, ENST00000713762, ENST00000713767, ENST00000713779, ENST00000713780, ENST00000713781, ENST00000713782, ENST00000713783, ENST00000713784, ENST00000713817, ENST00000713818, ENST00000713819, ENST00000713820, ENST00000713821, ENST00000713822, ENST00000713823, ENST00000713824, ENST00000713825, ENST00000713832, ENST00000713833, ENST00000713834, ENST00000713835, ENST00000713855, ENST00000856883

RefSeq mRNA: 1 — MANE Select: NM_001943 NM_001943

CCDS: CCDS42423

Canonical transcript exons

ENST00000261590 — 15 exons

Exon	Start	End
ENSE00000796930	31535270	31535412
ENSE00000796931	31536202	31536429
ENSE00000796932	31538751	31538978
ENSE00000796933	31541193	31541314
ENSE00000796934	31542520	31542852
ENSE00000998595	31530987	31531252
ENSE00001107962	31524703	31524888
ENSE00001107968	31524448	31524585
ENSE00004021170	31519803	31519937
ENSE00004021172	31521099	31521243
ENSE00004021174	31520803	31520964
ENSE00004021175	31518239	31518274
ENSE00004021176	31522083	31522249
ENSE00004021508	31498177	31498296
ENSE00004021510	31545721	31549008

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 99.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.2875 / max 373.2776, expressed in 1137 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169824	12.1440	1116
169823	2.1034	491
169819	0.4700	222
169821	0.2727	136
169820	0.1881	92
169822	0.1093	46

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of sigmoid colon	UBERON:0004993	99.62	gold quality
colonic mucosa	UBERON:0000317	99.27	gold quality
jejunal mucosa	UBERON:0000399	99.14	gold quality
palpebral conjunctiva	UBERON:0001812	98.76	gold quality
parotid gland	UBERON:0001831	98.35	gold quality
hair follicle	UBERON:0002073	98.03	gold quality
rectum	UBERON:0001052	97.81	gold quality
mammary duct	UBERON:0001765	97.38	gold quality
choroid plexus epithelium	UBERON:0003911	97.36	gold quality
epithelium of mammary gland	UBERON:0003244	97.27	gold quality
duodenum	UBERON:0002114	97.12	gold quality
germinal epithelium of ovary	UBERON:0001304	97.10	gold quality
amniotic fluid	UBERON:0000173	96.67	gold quality
parietal pleura	UBERON:0002400	95.69	gold quality
caput epididymis	UBERON:0004358	95.53	gold quality
corpus epididymis	UBERON:0004359	95.07	gold quality
islet of Langerhans	UBERON:0000006	95.01	gold quality
thoracic mammary gland	UBERON:0005200	94.55	gold quality
mammary gland	UBERON:0001911	94.46	gold quality
nephron tubule	UBERON:0001231	94.23	gold quality
pleura	UBERON:0000977	93.78	gold quality
esophagus squamous epithelium	UBERON:0006920	93.63	gold quality
bronchial epithelial cell	CL:0002328	93.02	gold quality
cartilage tissue	UBERON:0002418	93.02	gold quality
gall bladder	UBERON:0002110	92.86	gold quality
mucosa of urinary bladder	UBERON:0001259	92.73	gold quality
heart right ventricle	UBERON:0002080	92.71	gold quality
mucosa of transverse colon	UBERON:0004991	92.40	gold quality
placenta	UBERON:0001987	92.38	gold quality
epithelium of nasopharynx	UBERON:0001951	91.67	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8530	yes	676.41
E-MTAB-6678	yes	16.35
E-GEOD-124858	no	35.76
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF1A, SNAI1

miRNA regulators (miRDB)

124 targeting DSG2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394

Functional genomics

ClinGen dosage: haploinsufficiency 2 (emerging evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Desmoglein 2 was highly expressed by the least differentiated cells of the cutaneous epithelium, including the hair follicle bulge of the fetus and adult, bulb matrix cells, and basal layer of the outer root sheath. (PMID:12787134)
• Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in subjects with ARVC. (PMID:16505173)
• mutations in DSG2 contribute to the development ofarrhythmogenic right ventricular dysplasia/cardiomyopathy (PMID:16773573)
• Data demonstrate that UV-induced desmoglein-2 down-regulation is mediated via reactive oxygen species which are generated through EGF receptor activation and Rac2/NADPH oxidase activation. (PMID:16820949)
• Mutations in DSG2 display a high degree of penetrance. Disease expression was of variable severity with left ventricular involvement a prominent feature. (PMID:17105751)
• long term treatment with epidermal growth factor (EGF) leads to a marked increase in the levels of ADAM17, which also increases the shedding of several substrates of ADAM17, including the desmosomal cadherin Dsg-2 (PMID:17227756)
• desmoglein 2 is a novel solitary surface glycoprotein in malignant melanoma cells (PMID:17495963)
• Dsg2 was targeted by caspases in cell lines undergoing staurosporine-induced apoptosis. The proteolytic processing of full-length Dsg2 released a 70-kDa fragment into the cytosol. (PMID:17559062)
• Dsg2 regulates intestinal epithelial cell apoptosis driven by cysteine proteases during physiological differentiation and inflammation (PMID:17804817)
• Mutations in the desmosome genes were identified in four of the five patients (three with a DSG2 mutation and one with a DSP mutation). Five gene mutations were noted in four patients and all mutations were novel (one patient had a DSG2 double mutation). (PMID:18632414)
• DSG2-V55M polymorphism is identified as a novel risk variant for dilated cardiomyopathy. (PMID:18678517)
• Monoclonal antibodies against the proregion of the desmosomal cadherin, human desmoglein-2. (PMID:18707543)
• Desmoglein 2 has been demonstrated in a sizable subset of nevi and primary melanomas. (PMID:18975006)
• Results show that epidermal growth factor receptor inhibition stabilizes desmoglein 2 at intercellular junctions by interfering with its accumulation in an internalized cytoplasmic pool. (PMID:18987342)
• levels of Dsg1 & Dsg2 are reduced in pancreatic tumors; expression of kallikrein 7 in BxPC-3 cells resulted in increase in shedding of soluble Dsg2 (PMID:19091121)
• While Dsg2 expression was consistently strong in BCC, it varied in SCC with a minor correlation between a decrease of Dsg2 expression and tumor differentiation (PMID:19458482)
• Mutations in DSG2 and DSC2 are less prevalent than PKP2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomypath patients. (PMID:20031616)
• Dsg2-mediated adhesion affects tight junction integrity and is required to maintain intestinal epithelial barrier properties (PMID:20224006)
• Co-segregation of the G812S mutation with disease expression was established in a large Caucasian family.No differences in targeting or stability of the mutant proteins, suggesting that they act via a dominant negative mechanism (PMID:20708101)
• Studies identified two mutations in DSG2, four in DSC2, two in DSP, four in JUP and seven in PKP2. (PMID:20864495)
• Study demonstrated a molecular switching in gene expression within the desmoglein subfamily between DSG3 and DSG2 during oral cancer progression. (PMID:20923451)
• We detected a novel mutation: DSG2 3059_3062delAGAG and it may induce disintegrationofthe desmosomal structure (PMID:21397041)
• Dsg2 extracellular and intracellular domains are cleaved by proteolytic enzymes, and multiple cleavage fragments of Dsg2 are generated in colonic epithelial cells. (PMID:21715983)
• The Dsg2 exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane. (PMID:22184201)
• Desmoglein 2, expressed earliest among the four isoforms in development, was found to be mutated in arrythmogenic right ventricular cardiomyopathy and is a receptor for a subset of adenoviruses that cause respiratory and urinary tract infections. (PMID:22189787)
• 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)
• Gastroesophageal reflux disease was specifically associated with elevated transcript levels of desmoglein 2 and plakoglobin (PMID:22521077)
• Dsg-2 with a mutation at the predicted cleavage site is resistant to cleavage by matriptase. Thus Dsg-2 seems to be a functionally relevant physiological substrate of matriptase. (PMID:22783993)
• an impaired prodomain cleavage and an influence on the DSG2-properties could be demonstrated for the R46Q-variant leading to the classification of the variant as a potential gain-of-function mutant in arrhythmogenic right ventricular cardiomyopathy (PMID:23071725)
• The Dsg unique region(DUR) of Dsg2 stabilized Dsg2 at the cell surface by inhibiting its internalization and promoted strong intercellular adhesion. (PMID:23128240)
• Snail regulates levels of E-cadherin and desmoglein 2 in oral squamous cell carcinoma cells both transcriptionally and post-translationally. (PMID:23261431)
• CD133 interacts with plakoglobin and knockdown of CD133 by RNA interference (RNAi) results in the downregulation of desmoglein-2. (PMID:23326490)
• Specific desmosomal cadherins contribute differently to keratinocyte cohesion and that Dsg2 compared to Dsg3 is less important in this context. (PMID:23326495)
• findings were consistent with the results obtained by immunohistochemistry of endomyocardial biopsies and epidermal tissue of mutation carriers, which indicated a normal cellular distribution of DSG2 (PMID:23381804)
• Desmoglein-2 co-localizes with integrin-beta8 in N-MVECs. (PMID:23874518)
• Authors found a number of mutations within or near the EF loop of the Ad3 fiber knob that resulted in affinities to DSG2 that were several orders of magnitude higher than those to the wild-type Ad3 knob. (PMID:23946456)
• Reduced cardiac desmoglein-2 and desmocollin-2 levels appear to be specifically associated with Arrhythmogenic right ventricular Dysplasia/cardiomyopathy, independent of underlying mutations. (PMID:24086444)
• Data demonstrate that partner desmosomal cadherins Dsg2 and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling. (PMID:24166502)
• Desmoglein 2 expression attenuates migration of melanoma cells, mediated by downregulation of secretogranin II. (PMID:24558503)
• Gal3 has a role in stabilizing desmoglein-2, a desmosomal cadherin, and intercellular adhesion in intestinal epithelial cells (PMID:24567334)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch73-74h11.1	ENSDARG00000062750
mus_musculus	Dsg2	ENSMUSG00000044393
rattus_norvegicus	Dsg2	ENSRNOG00000016526

Paralogs (6): DSC2 (ENSG00000134755), DSG3 (ENSG00000134757), DSG1 (ENSG00000134760), DSC3 (ENSG00000134762), DSC1 (ENSG00000134765), DSG4 (ENSG00000175065)

Protein

Protein identifiers

Desmoglein-2 — Q14126 (reviewed: Q14126)

Alternative names: Cadherin family member 5, HDGC

All UniProt accessions (22): A0A804HIA2, A0A804HJQ3, Q14126, A0AAQ5BGT2, A0AAQ5BGU9, A0AAQ5BGV7, A0AAQ5BGW0, A0AAQ5BGX2, A0AAQ5BGX5, A0AAQ5BGX8, A0AAQ5BGY9, A0AAQ5BGZ0, A0AAQ5BGZ7, A0AAQ5BGZ9, A0AAQ5BH00, A0AAQ5BH03, A0AAQ5BH06, A0AAQ5BH09, A0AAQ5BH19, A0AAQ5BH29, A0AAQ5BH32, J3KSI6

UniProt curated annotations — full annotation on UniProt →

Function. A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Required for proliferation and viability of embryonic stem cells in the blastocyst, thereby crucial for progression of post-implantation embryonic development. Maintains pluripotency by regulating epithelial to mesenchymal transition/mesenchymal to epithelial transition (EMT/MET) via interacting with and sequestering CTNNB1 to sites of cell-cell contact, thereby reducing translocation of CTNNB1 to the nucleus and subsequent transcription of CTNNB1/TCF-target genes. Promotes pluripotency and the multi-lineage differentiation potential of hematopoietic stem cells. Plays a role in endothelial cell sprouting and elongation via mediating the junctional-association of cortical actin fibers and CDH5. Promotes cardiomyocyte cell homeostasis and desmosome junction formation at intercalated disks, as a result plays a role in the maintenance of cardiac conduction and heart chamber integrity. Positively regulates pancreatic islet development and maintenance of endothelial cell barrier integrity in the pancreas, therefore involved in the controlled release of insulin from islet cells into the circulation in response to glucose. Plays a role in limiting inflammatory infiltration and the apoptotic response to injury in kidney tubular epithelial cells, potentially via its role in maintaining cell-cell adhesion and the epithelial barrier. Acts as a positive modulator of CSK and EGFR activation via sequestering them away from lipid rafts, this is independent of its role in desmosome cell junctions. Also disrupts the localization of CAV1 to lipid rafts resulting in its distribution throughout the cytoplasm.

Subunit / interactions. Forms homodimers. Interacts with PKP2. Interacts with CTNNB1; the interaction promotes localization of CTNNB1 at cell junctions thus reducing its nuclear localization and subsequent transcription of CTNNB1/TCF-target genes.

Subcellular location. Cell membrane. Cell junction. Desmosome. Cytoplasm.

Tissue specificity. Expressed in undifferentiated pluripotent stem cells, expression decreases during differentiation (at protein level). Expressed in hematopoietic stem cells and circulating endothelial progenitor cells, expression decreases upon increasing cell lineage commitment (at protein level). Expressed on common myeloid progenitors, pro-myelocytes, pro-erythrocytes and B-cell linage progenitors (at protein level). Expression in mature cell types in the bone marrow and mature leukocyte populations is absent. Expressed by foreskin fibroblasts, expression peaks during the early stage of differentiation reprogramming (at protein level). Expressed by endothelial cells in both arterioles and venules in the cervix (at protein level). Expressed in pancreatic alpha-cells, beta-cells and exocrine tissue (at protein level). Expressed in cardiomyocytes (at protein level). Expressed in kidney tubular epithelial cells.

Post-translational modifications. Cleaved by CASP3 in response to apoptosis which results in a loss of full length DSG2 at cell-cell adhesion junctions and a decrease in intercellular adhesion. N-glycosylated; promotes localization to the plasma membrane and cell-cell adhesion junction strength. Palmitoylated by ZDHHC5 at the plasma membrane.

Disease relevance. Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193] 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. Cardiomyopathy, dilated, 1BB (CMD1BB) [MIM:612877] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Domain organisation. Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.

RefSeq proteins (1): NP_001934* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002126	Cadherin-like_dom	Domain
IPR009122	Desmosomal_cadherin	Family
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR027397	Catenin-bd_sf	Homologous_superfamily
IPR050971	Cadherin-domain_protein	Family

Pfam: PF00028

UniProt features (130 total): strand 42, sequence variant 27, turn 14, modified residue 11, mutagenesis site 7, repeat 6, glycosylation site 5, domain 4, sequence conflict 3, helix 2, compositionally biased region 2, topological domain 2, signal peptide 1, propeptide 1, region of interest 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

12 structures.

PDB	Method	Resolution (Å)
5ERD	X-RAY DIFFRACTION	2.9
7AGF	ELECTRON MICROSCOPY	3.1
8QK3	ELECTRON MICROSCOPY	3.2
5J5J	X-RAY DIFFRACTION	3.29
7AGG	ELECTRON MICROSCOPY	3.3
8QJX	ELECTRON MICROSCOPY	3.3
6QNT	ELECTRON MICROSCOPY	3.5
8QJY	ELECTRON MICROSCOPY	3.5
6QNU	ELECTRON MICROSCOPY	3.8
6SIT	X-RAY DIFFRACTION	4.5
7A7D	ELECTRON MICROSCOPY	26
2YQG	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14126-F1	65.27	0.43

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 (11): 680, 700, 703, 723, 726, 804, 806, 810, 815, 922, 1118

Glycosylation sites (5): 112, 182, 309, 462, 514

Mutagenesis-validated functional residues (7):

Position	Phenotype
112	abolishes glycosylation, reduces localization to the plasma membrane.
154	abolishes glycosylation. increases size of glycosylation at asn-182. increase in cell-cell adhesion strength.
182	abolishes glycosylation, reduces localization to the plasma membrane.
187	increase in cell-cell adhesion strength.
309	abolishes glycosylation.
462	abolishes glycosylation, reduces localization to the plasma membrane.
514	abolishes glycosylation, reduces localization to the plasma membrane.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-351906	Apoptotic cleavage of cell adhesion proteins
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle

MSigDB gene sets: 402 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_BUNDLE_OF_HIS_CELL_TO_PURKINJE_MYOCYTE_COMMUNICATION, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOBP_MESENCHYMAL_TO_EPITHELIAL_TRANSITION, AREB6_03, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, GOCC_CELL_SURFACE, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION

GO Biological Process (20): desmosome organization (GO:0002934), Purkinje myocyte development (GO:0003165), cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), negative regulation of epithelial to mesenchymal transition (GO:0010719), response to progesterone (GO:0032570), negative regulation of apoptotic process (GO:0043066), negative regulation of endothelial cell differentiation (GO:0045602), positive regulation of cell adhesion (GO:0045785), maternal process involved in female pregnancy (GO:0060135), mesenchymal to epithelial transition (GO:0060231), stem cell proliferation (GO:0072089), bundle of His cell-Purkinje myocyte adhesion involved in cell communication (GO:0086073), regulation of heart rate by cardiac conduction (GO:0086091), cell-cell adhesion (GO:0098609), regulation of ventricular cardiac muscle cell action potential (GO:0098911), negative regulation of inflammatory response to wounding (GO:0106015), positive regulation of protein localization to cell-cell junction (GO:0150107), positive regulation of stem cell population maintenance (GO:1902459), positive regulation of sprouting angiogenesis (GO:1903672)

GO Molecular Function (5): calcium ion binding (GO:0005509), cell adhesion molecule binding (GO:0050839), cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication (GO:0086083), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (13): cornified envelope (GO:0001533), cytoplasm (GO:0005737), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), cell surface (GO:0009986), intercalated disc (GO:0014704), apical plasma membrane (GO:0016324), lateral plasma membrane (GO:0016328), cell junction (GO:0030054), desmosome (GO:0030057), extracellular exosome (GO:0070062), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	3
Apoptotic cleavage of cellular proteins	1
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cell adhesion	2
plasma membrane	2
cell-cell junction organization	1
His-Purkinje system development	1
ventricular cardiac muscle tissue development	1
cellular process	1
cell-cell adhesion	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
negative regulation of cell differentiation	1
negative regulation of multicellular organismal process	1
response to steroid hormone	1
response to ketone	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
negative regulation of epithelial cell differentiation	1
endothelial cell differentiation	1
regulation of endothelial cell differentiation	1
regulation of cell adhesion	1
positive regulation of cellular process	1
female pregnancy	1
multicellular organismal reproductive process	1
epithelial cell differentiation	1
cell population proliferation	1
stem cell division	1
heterotypic cell-cell adhesion	1
cardiac muscle cell-cardiac muscle cell adhesion	1
bundle of His cell to Purkinje myocyte communication	1
regulation of heart rate	1
cardiac conduction	1
regulation of cardiac muscle cell contraction	1
ventricular cardiac muscle cell action potential	1
regulation of cardiac muscle cell action potential	1
negative regulation of inflammatory response	1
inflammatory response to wounding	1
regulation of inflammatory response to wounding	1
negative regulation of response to wounding	1
protein localization to cell-cell junction	1

Protein interactions and networks

STRING

1480 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DSG2	PKP2	Q99959	998
DSG2	DSP	P15924	995
DSG2	DSC2	Q02487	987
DSG2	JUP	P14923	978
DSG2	TMEM43	Q9BTV4	924
DSG2	DSC3	Q14574	914
DSG2	GJA1	P17302	822
DSG2	TGFB3	P10600	804
DSG2	SCN5A	Q14524	768
DSG2	CD46	P15529	766
DSG2	RYR2	Q92736	764
DSG2	PKP1	Q13835	763
DSG2	MYBPC3	Q14896	762
DSG2	RBM20	Q5T481	756
DSG2	PKP3	Q9Y446	752

IntAct

196 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
PAK5	AURKA	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
DSC2	DSG2	psi-mi:“MI:0407”(direct interaction)	0.610
DSG2	DSC2	psi-mi:“MI:0915”(physical association)	0.610
TUBB3	POTEF	psi-mi:“MI:0914”(association)	0.530
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
RPN1	APBB1	psi-mi:“MI:0914”(association)	0.530
SPSB2	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
SPSB4	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
DSG2	DSC3	psi-mi:“MI:0407”(direct interaction)	0.440
DSC1	DSG2	psi-mi:“MI:0407”(direct interaction)	0.440
LTK	PIK3R2	psi-mi:“MI:0914”(association)	0.420
Cbx1	FLOT1	psi-mi:“MI:0915”(physical association)	0.400
Trim69		psi-mi:“MI:0915”(physical association)	0.400
ERBB2	DSG2	psi-mi:“MI:0915”(physical association)	0.400
TGFBR2	DSG2	psi-mi:“MI:0915”(physical association)	0.400
DSG2	JUP	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (357): DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Proximity Label-MS), DSG2 (Proximity Label-MS), DSG2 (Proximity Label-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS), DSG2 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2BIB6, F1QSQ0, F8W3X3, H2EQR6, O35902, O54800, O55111, O93319, P32926, P33545, P55280, P55285, P55286, P55287, P55288, P55289, P55292, P55849, P55850, P70407, P70408, P79995, P97291, P97326, Q01107, Q02413, Q02487, Q08554, Q08DJ5, Q13634, Q14126, Q14574, Q28060, Q3SWX5, Q5DWV1, Q5RJH3, Q61495, Q68SP4, Q6W3B0, Q7TMD7

Diamond homologs: A0A8M2BIB6, B0KW95, B2KI42, B4USZ0, F1PAA9, H2EQR6, O18926, O35902, O55075, O55111, O88277, P08641, P09803, P10287, P10288, P12830, P15116, P19022, P19534, P19535, P20310, P22223, P24503, P30944, P32926, P33145, P33146, P33147, P33148, P33150, P33152, P33545, P39038, P55283, P55290, P55291, P55292, P55849, P55850, P79883

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 226 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
Activation of BAD and translocation to mitochondria	6	30.1×	3e-06
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	26.5×	5e-06
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	26.5×	5e-06
Signaling by ERBB2 ECD mutants	5	22.1×	7e-05
GRB2 events in ERBB2 signaling	5	20.9×	8e-05
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	9	19.9×	1e-07
Activation of BH3-only proteins	6	19.6×	2e-05
PD-L1(CD274) glycosylation and translocation to plasma membrane	5	17.1×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
obsolete protein N-linked glycosylation via asparagine	5	17.8×	2e-03
peptidyl-tyrosine phosphorylation	7	15.6×	4e-04
positive regulation of protein import into nucleus	6	13.4×	2e-03
platelet aggregation	6	10.7×	4e-03
protein N-linked glycosylation	6	8.4×	8e-03
neuron apoptotic process	8	7.8×	2e-03
cell surface receptor protein tyrosine kinase signaling pathway	8	7.3×	3e-03
positive regulation of neuron projection development	10	7.2×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

2107 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	58
Likely pathogenic	58
Uncertain significance	1118
Likely benign	554
Benign	46

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1075406	NM_001943.5(DSG2):c.676_680del (p.Thr226fs)	Pathogenic
1075858	NM_001943.5(DSG2):c.2480_2712del (p.Asp827fs)	Pathogenic
1075931	NM_001943.5(DSG2):c.1672C>T (p.Gln558Ter)	Pathogenic
1353815	NM_001943.5(DSG2):c.1705C>T (p.Gln569Ter)	Pathogenic
1387457	NM_001943.5(DSG2):c.613_658dup (p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer)	Pathogenic
1427568	NM_001943.5(DSG2):c.527_533del (p.Thr176fs)	Pathogenic
1455568	NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter)	Pathogenic
1456782	NM_001943.5(DSG2):c.423del (p.Lys141fs)	Pathogenic
1459522	NM_001943.5(DSG2):c.917G>A (p.Trp306Ter)	Pathogenic
1459763	NC_000018.9:g.(?29115223)(29118951_?)del	Pathogenic
1459814	NM_001943.5(DSG2):c.909del (p.Asp304fs)	Pathogenic
1693197	NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs)	Pathogenic
1752786	NM_001943.5(DSG2):c.630del (p.Phe211fs)	Pathogenic
199800	NM_001943.5(DSG2):c.769C>T (p.Gln257Ter)	Pathogenic
199823	NM_001943.5(DSG2):c.601_605del (p.Val201fs)	Pathogenic
199831	NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs)	Pathogenic
2024795	NM_001943.5(DSG2):c.1759dup (p.Thr587fs)	Pathogenic
2093339	NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)	Pathogenic
2110919	NM_001943.5(DSG2):c.361G>T (p.Glu121Ter)	Pathogenic
2118301	NM_001943.5(DSG2):c.290del (p.Pro97fs)	Pathogenic
2424328	NC_000018.9:g.(?29115213)(29126706_?)del	Pathogenic
2448369	NM_001943.5(DSG2):c.449_450del (p.Leu150fs)	Pathogenic
2563311	NM_001943.5(DSG2):c.1970G>A (p.Trp657Ter)	Pathogenic
2572599	NM_001943.5(DSG2):c.382del (p.Thr128fs)	Pathogenic
2692970	NM_001943.5(DSG2):c.1689del (p.Arg565fs)	Pathogenic
2746733	NM_001943.5(DSG2):c.498del (p.Ser167fs)	Pathogenic
2754845	NM_001943.5(DSG2):c.2321del (p.Asn774fs)	Pathogenic
2826490	NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)	Pathogenic
2828585	NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)	Pathogenic
3027046	NM_001943.5(DSG2):c.1404del (p.Ile469fs)	Pathogenic

SpliceAI

2106 predictions. Top by Δscore:

Variant	Effect	Δscore
18:31519798:TATA:T	acceptor_loss	1.0000
18:31519933:CCAAG:C	donor_loss	1.0000
18:31519936:AGGT:A	donor_loss	1.0000
18:31519938:G:GC	donor_loss	1.0000
18:31520802:GATAC:G	acceptor_gain	1.0000
18:31520964:GGTAA:G	donor_loss	1.0000
18:31520965:G:GG	donor_gain	1.0000
18:31520965:GTAAG:G	donor_loss	1.0000
18:31520966:T:A	donor_loss	1.0000
18:31521090:T:TA	acceptor_gain	1.0000
18:31521094:TTCA:T	acceptor_loss	1.0000
18:31521097:A:AG	acceptor_gain	1.0000
18:31521097:A:AT	acceptor_loss	1.0000
18:31521098:G:GA	acceptor_gain	1.0000
18:31521098:GC:G	acceptor_gain	1.0000
18:31521098:GCT:G	acceptor_gain	1.0000
18:31521098:GCTA:G	acceptor_gain	1.0000
18:31521098:GCTAA:G	acceptor_gain	1.0000
18:31521204:G:GT	donor_gain	1.0000
18:31521231:T:G	donor_gain	1.0000
18:31521240:GCAC:G	donor_gain	1.0000
18:31521241:CAC:C	donor_gain	1.0000
18:31521241:CACG:C	donor_loss	1.0000
18:31521242:AC:A	donor_gain	1.0000
18:31521242:ACGTA:A	donor_loss	1.0000
18:31521243:CG:C	donor_loss	1.0000
18:31521244:G:GG	donor_gain	1.0000
18:31521244:GTAAG:G	donor_loss	1.0000
18:31521245:T:G	donor_loss	1.0000
18:31522075:A:AG	acceptor_gain	1.0000

AlphaMissense

7353 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:31520918:T:C	L111P	0.998
18:31520942:G:C	R119P	0.997
18:31521196:T:C	F159S	0.997
18:31524555:T:A	N266K	0.997
18:31524555:T:G	N266K	0.997
18:31519872:T:A	W51R	0.996
18:31519872:T:C	W51R	0.996
18:31519874:G:C	W51C	0.996
18:31519874:G:T	W51C	0.996
18:31521181:A:C	D154A	0.996
18:31520945:A:T	E120V	0.995
18:31524473:T:A	V239E	0.995
18:31524530:T:A	V258D	0.995
18:31524557:A:C	D267A	0.995
18:31521112:C:A	A131D	0.994
18:31521154:T:C	L145P	0.994
18:31521171:G:C	D151H	0.994
18:31521172:A:T	D151V	0.994
18:31521181:A:T	D154V	0.994
18:31522107:C:A	A183E	0.994
18:31522118:G:C	D187H	0.994
18:31519932:G:C	A71P	0.993
18:31520891:T:C	F102S	0.993
18:31521173:T:A	D151E	0.993
18:31521173:T:G	D151E	0.993
18:31522119:A:C	D187A	0.993
18:31531033:T:A	V354D	0.993
18:31536410:G:C	W544C	0.993
18:31536410:G:T	W544C	0.993
18:31520912:G:T	G109V	0.992

dbSNP variants (sampled 300 via entrez): RS1000057064 (18:31523386 G>A), RS1000075976 (18:31544243 C>A), RS1000138772 (18:31503106 C>T), RS1000224809 (18:31525616 A>G), RS1000253943 (18:31545890 C>T), RS1000317097 (18:31513441 C>T), RS1000357840 (18:31506168 G>C), RS1000360589 (18:31513191 G>A), RS1000378231 (18:31519726 A>G), RS1000398725 (18:31500589 A>G), RS1000497213 (18:31517683 T>A), RS1000571412 (18:31508148 T>C), RS1000591634 (18:31547213 A>C,G), RS1000611519 (18:31519332 G>A,C), RS1000686240 (18:31547428 G>A,C)

Disease associations

OMIM: gene MIM:125671 | disease phenotypes: MIM:610193, MIM:612877, MIM:609040, MIM:600996, MIM:604772, MIM:192600, MIM:107970, MIM:105210, MIM:618300, MIM:115200

GenCC curated gene-disease

Disease	Classification	Inheritance
arrhythmogenic right ventricular dysplasia 10	Definitive	Autosomal dominant
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant
dilated cardiomyopathy 1BB	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
dilated cardiomyopathy 1BB	Limited	AD
arrhythmogenic right ventricular cardiomyopathy	Definitive	AD

Mondo (22): cardiomyopathy (MONDO:0004994), arrhythmogenic right ventricular dysplasia 10 (MONDO:0012434), dilated cardiomyopathy 1BB (MONDO:0013030), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587), hypertrophic cardiomyopathy (MONDO:0005045), arrhythmogenic right ventricular dysplasia 9 (MONDO:0012180), long QT syndrome (MONDO:0002442), catecholaminergic polymorphic ventricular tachycardia 1 (MONDO:0011484), familial hypertrophic cardiomyopathy (MONDO:0024573), dilated cardiomyopathy (MONDO:0005021), cardiac arrest (MONDO:0000745), familial isolated arrhythmogenic right ventricular dysplasia (MONDO:0016342), amyloidosis, hereditary systemic 1 (MONDO:0971004), systolic heart failure (MONDO:0006993), restrictive cardiomyopathy (MONDO:0005201)

Orphanet (15): Familial isolated dilated cardiomyopathy (Orphanet:154), Rare cardiomyopathy (Orphanet:167848), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Rare hypertrophic cardiomyopathy (Orphanet:217569), Catecholaminergic polymorphic ventricular tachycardia (Orphanet:3286), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Dilated cardiomyopathy (Orphanet:217604), Inherited isolated arrhythmogenic cardiomyopathy (Orphanet:217656), ATTRV30M amyloidosis (Orphanet:85447), ATTRV122I amyloidosis (Orphanet:85451), Restrictive cardiomyopathy (Orphanet:217632), Uhl anomaly (Orphanet:3403), Familial dilated cardiomyopathy (Orphanet:217607), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

37 total (30 of 37 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000969	Edema
HP:0001635	Congestive heart failure
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001727	Thromboembolic stroke
HP:0001962	Palpitations
HP:0002094	Dyspnea
HP:0002224	Woolly hair
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003457	EMG abnormality
HP:0003581	Adult onset
HP:0003584	Late onset
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0004308	Ventricular arrhythmia
HP:0004756	Ventricular tachycardia
HP:0006682	Premature ventricular contraction
HP:0011462	Young adult onset
HP:0011663	Right ventricular cardiomyopathy
HP:0011675	Arrhythmia
HP:0011712	Complete right bundle branch block
HP:0011713	Left bundle branch block
HP:0012248	Prolonged PR interval
HP:0012378	Fatigue
HP:0012666	Severely reduced left ventricular ejection fraction
HP:0012764	Orthopnea

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_2587	Blood protein levels	1.000000e-08

MeSH disease descriptors (15)

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
D002313	Cardiomyopathy, Restrictive	C14.280.238.160
D006323	Heart Arrest	C14.280.383
D054143	Heart Failure, Systolic	C14.280.434.676
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
C565707	Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 (supp.)
C563409	Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 (supp.)
C563808	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (supp.)
C567877	Cardiomyopathy, Dilated, 1BB (supp.)
C536231	familial dilated cardiomyopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression, increases expression, affects expression	4
bisphenol A	decreases expression, increases expression, affects cotreatment	3
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	3
Valproic Acid	affects expression, increases expression	3
methylmercuric chloride	decreases expression	2
trichostatin A	increases expression	2
nickel sulfate	increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	2
Aflatoxin B1	increases expression	2
FR900359	decreases phosphorylation	1
perfluorodecanesulfonic acid	increases expression	1
pyrogallol 1,3-dimethyl ether	increases expression, affects cotreatment, affects localization, decreases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	affects binding, increases reaction, increases activity	1
tetrabromobisphenol A	increases expression	1
2-bromopalmitate	increases abundance, increases palmitoylation, decreases reaction	1
perfluorooctanoic acid	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
dibenzo(a,l)pyrene	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
trans-3,4’-dimethyl-3-hydroxyflavanone	increases expression	1
incobotulinumtoxinA	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
picoxystrobin	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1

Cellosaurus cell lines

10 cell lines: 5 induced pluripotent stem cell, 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A4JR	UMGi121-A.2	Induced pluripotent stem cell	Male
CVCL_A4JS	UMGi121-A.3	Induced pluripotent stem cell	Male
CVCL_A4JT	UMGi121-A.4	Induced pluripotent stem cell	Male
CVCL_A5CD	UNIPDi006-A	Induced pluripotent stem cell	Male
CVCL_A5QI	JMUi001-A-3	Induced pluripotent stem cell	Male
CVCL_B1F4	Abcam A-549 DSG2 KO 2	Cancer cell line	Male
CVCL_B1QE	Abcam HeLa DSG2 KO	Cancer cell line	Female
CVCL_B2MM	Abcam A-549 DSG2 KO 1	Cancer cell line	Male
CVCL_SL18	HAP1 DSG2 (-) 1	Cancer cell line	Male
CVCL_XN31	HAP1 DSG2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

300 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
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