DSC2

Summary

DSC2 (desmocollin 2, HGNC:3036) is a protein-coding gene on chromosome 18q12.1, encoding Desmocollin-2 (Q02487). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion.

This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 1824 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial isolated arrhythmogenic right ventricular dysplasia (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 2,091 total — 60 pathogenic, 37 likely-pathogenic
• Phenotypes (HPO): 14
• MANE Select transcript: NM_024422

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3036
Approved symbol	DSC2
Name	desmocollin 2
Location	18q12.1
Locus type	gene with protein product
Status	Approved
Aliases	CDHF2
Ensembl gene	ENSG00000134755
Ensembl biotype	protein_coding
OMIM	125645
Entrez	1824

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 22 protein_coding, 2 nonsense_mediated_decay, 1 non_stop_decay

ENST00000251081, ENST00000280904, ENST00000648081, ENST00000682357, ENST00000713681, ENST00000713682, ENST00000713683, ENST00000713684, ENST00000713685, ENST00000713686, ENST00000713702, ENST00000713703, ENST00000713704, ENST00000713705, ENST00000713706, ENST00000713707, ENST00000713708, ENST00000713709, ENST00000713720, ENST00000713721, ENST00000713722, ENST00000850650, ENST00000850651, ENST00000861946, ENST00000861947

RefSeq mRNA: 4 — MANE Select: NM_024422 NM_001406506, NM_001406507, NM_004949, NM_024422

CCDS: CCDS11892, CCDS11893, CCDS92447

Canonical transcript exons

ENST00000280904 — 16 exons

Exon	Start	End
ENSE00000456505	31092101	31092300
ENSE00000667568	31080096	31080352
ENSE00000667569	31082238	31082423
ENSE00000667572	31087669	31087813
ENSE00000667574	31091028	31091147
ENSE00000796879	31093559	31093643
ENSE00000796882	31089439	31089594
ENSE00000796884	31086576	31086742
ENSE00000796885	31082926	31083060
ENSE00000916003	31068894	31069151
ENSE00000916004	31070726	31070850
ENSE00000916005	31071605	31071841
ENSE00000998556	31074683	31074907
ENSE00000998565	31079847	31079989
ENSE00001838785	31058840	31068212
ENSE00003889875	31101903	31102421

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.3847 / max 894.2601, expressed in 1083 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171549	5.5779	857
171558	4.1995	825
171550	2.7726	553
171555	1.8822	252
171557	1.3062	543
171556	0.3684	164
171552	0.3161	138
171548	0.2471	130
208526	0.2414	111
171551	0.1922	97

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	99.86	gold quality
gingiva	UBERON:0001828	99.81	gold quality
oral cavity	UBERON:0000167	99.47	gold quality
tongue squamous epithelium	UBERON:0006919	99.45	gold quality
squamous epithelium	UBERON:0006914	99.44	gold quality
esophagus squamous epithelium	UBERON:0006920	99.44	gold quality
pharyngeal mucosa	UBERON:0000355	99.33	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.04	gold quality
jejunal mucosa	UBERON:0000399	99.03	gold quality
colonic mucosa	UBERON:0000317	98.90	gold quality
cervix squamous epithelium	UBERON:0006922	98.69	gold quality
body of tongue	UBERON:0011876	98.66	gold quality
epithelium of esophagus	UBERON:0001976	98.27	gold quality
penis	UBERON:0000989	98.08	gold quality
mammalian vulva	UBERON:0000997	97.54	gold quality
esophagus mucosa	UBERON:0002469	97.47	gold quality
tongue	UBERON:0001723	97.30	gold quality
lower esophagus mucosa	UBERON:0035834	96.83	gold quality
cervix epithelium	UBERON:0004801	96.81	gold quality
parotid gland	UBERON:0001831	96.65	gold quality
amniotic fluid	UBERON:0000173	96.56	gold quality
upper leg skin	UBERON:0004262	96.09	gold quality
tonsil	UBERON:0002372	95.61	gold quality
rectum	UBERON:0001052	95.11	gold quality
superior surface of tongue	UBERON:0007371	95.06	gold quality
duodenum	UBERON:0002114	94.73	gold quality
epithelium of nasopharynx	UBERON:0001951	94.03	gold quality
mammary duct	UBERON:0001765	93.46	gold quality
germinal epithelium of ovary	UBERON:0001304	93.19	gold quality
mucosa of transverse colon	UBERON:0004991	93.02	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	772.91
E-MTAB-6701	yes	75.70
E-GEOD-125970	yes	15.83
E-MTAB-9388	yes	6.53
E-MTAB-10596	no	1122.45
E-GEOD-110499	no	32.93
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

142 targeting DSC2, 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-4795-3P	100.00	74.62	4024
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163

Literature-anchored findings (GeneRIF, showing 40)

• cpo has a role in regulating proper nervous system function, including seizure susceptibility (PMID:15687283)
• variation for the diapause phenotype is caused by a single Lys/Ile substitution in one of the six cpo transcripts (PMID:18852464)
• There is no evidence for an association between the cpo I462K polymorphism and ovarian dormancy in Australian fruit flies. (PMID:21689187)
• The results reveal that the downstream cpo SNP does not seem to play any role in diapause induction in European Drosophila populations in contrast to the upstream coding cpo SNP. (PMID:27598401)
• Conserved binding of GCAC motifs by MEC-8, couch potato, and the RBPMS protein family has been reported (PMID:28003515)
• Loss of Dsc2 protein is associated with colorectal cancer (PMID:17088906)
• DSC2 mutations are a cause of arrhythmogenic right ventricular cardiomyopathy in humans, physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function. (PMID:17186466)
• The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations (PMID:17963498)
• 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)
• Repression of the desmocollin 2 gene expression in human colon cancer cells is relieved by the homeodomain transcription factors Cdx1 and Cdx2. (PMID:18819935)
• mutation associated with autosomal recessive arrhythmogenic right ventricular cardiomyopathy (PMID:18957847)
• Mutations in DSG2 and DSC2 are less prevalent than PKP2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomypath patients. (PMID:20031616)
• DSC2 gene mutations are not frequently involved in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID:20197793)
• Desmocollin 2 is involved in the transformation and development of esophageal tumors and that desmocollin 2 expression level and intracellular localization may serve as a predictor for patient outcomes. (PMID:20621329)
• Studies identified two mutations in DSG2, four in DSC2, two in DSP, four in JUP and seven in PKP2. (PMID:20864495)
• Report mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. (PMID:21062920)
• At the molecular level, altered binding properties of the desmocollin-2a mutant may contribute to the changes in connexin43 (PMID:21220045)
• Loss of Desmocollin2 promotes cell proliferation and enables tumor growth in vivo through the activation of Akt/beta-catenin signaling. (PMID:21325624)
• DSC2 is a useful immunohistochemical marker for separation of Urothelial carcinoma with squamous differentiation from pure Urothelial carcinoma (PMID:22014052)
• The Dsc2 exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane. (PMID:22184201)
• High expression of desmocollin 1 (DSC1) was observed in 41.6%, DSC2 in 58.0%, DSC3 in 61.4%, E-cadherin in 71.4%, CDX2 in 58.0%, PITX1 in 55.0%, CDK4 in 0.2%, TLE1 in 1.3%, Factor H in 42.5%, and MDM2 in 0.2% of colorectal carcinomas. (PMID:22438068)
• results suggest that abnormal activation of beta-catenin contributes to adenomyosis development through the induction of epithelial-mesenchymal transition (PMID:23836524)
• A homozygous truncation mutation, c.1660C>T (p.Q554X) in desmocollin-2 (DSC2) was idnetified in affected individuals and determined a carrier frequency of this mutation of 9.4% among 1535 Schmiedeleut Hutterites. (PMID:23863954)
• Low expression of DSC 1, 2, and 3 was observed in 55, 54, and 79 % of liver metastases. (PMID:23975055)
• 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)
• Case of arrhythmogenic right ventricular cardiomyopathy with a previously unreported desmocollin-2 mutation (c.712_714delGAT). This genetic variant displays autosomal recessive inheritance without the cutaneous manifestations. (PMID:24793512)
• DSC2 may be involved in the regulation of the invasive behavior of cells by a mechanism that controls cellcell attachment and cytoskeleton rearrangement (PMID:25119898)
• a novel Nrf2-miR-29-Dsc2 axis controls desmosome function and cutaneous homeostasis (PMID:25283360)
• ECG reliably identifies homozygous p.Gln554X desmocollin-2 carriers and may be useful as an initial step in the screening of high-risk Hutterites. (PMID:25497880)
• Desmocollin-2 mutations are described for dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, as well. Desmocollin-2 mutation was described in a case of arrhythmogenic biventricular cardiomyopathy (PMID:25576714)
• DSC2 promoter methylation is associated with Breast Cancer. (PMID:25809865)
• Data suggest juxtamembrane regions/domains of desmocollin-2 (DSC2), plakophilin 2 (PKP2), and plakophilin 3 (PKP3) are involved in desmosome formation in epithelial cells; DSC2 participates in desmosome formation in absence of desmoglein 2 (DSG2). (PMID:25972099)
• Homozygous founder mutation in DSC2 gene identified among Italian arrhythmogenic cardiomyopathy probands, providing evidence of the occurrence of recessive DSC2 mutations presenting with biventricular forms of the disease. (PMID:26310507)
• Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 expression in human umbilical vein endothelial cells. (PMID:26498522)
• Desmocollin-2 genetic variant contributes to Arrhythmogenic Right Ventricular Cardiomyopathy (PMID:27531918)
• A novel missense mutation (c.1090 G > A/p.V364 M) of DSC2 was identified in a Chinese family with arrhythmogenic right ventricular cardiomyopathy. (PMID:28256248)
• The cardiac specific DSC2 transgenic mice develop severe biventricular cardiomyopathy. (PMID:28339476)
• PKP3 overexpression increases the stability of other desmosomal proteins independently of the increase in DSC2 levels and regulates desmosome formation and stability by a multimodal mechanism affecting transcription, protein stability and cell border localization of desmosomal proteins. (PMID:29146182)
• Colocalization analysis using cell compartment trackers revealed that N-glycosylation- deficient DSC2 mutants were retained within the Golgi apparatus. In contrast, elimination of the four O-mannosylation sites or the disulfide bridges in the ECD has no obvious effect on the intracellular protein processing of DSC2. (PMID:30942563)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dsc2l	ENSDARG00000039677
mus_musculus	Dsc2	ENSMUSG00000024331
rattus_norvegicus	Dsc2	ENSRNOG00000039969

Paralogs (6): DSG2 (ENSG00000046604), DSG3 (ENSG00000134757), DSG1 (ENSG00000134760), DSC3 (ENSG00000134762), DSC1 (ENSG00000134765), DSG4 (ENSG00000175065)

Protein

Protein identifiers

Desmocollin-2 — Q02487 (reviewed: Q02487)

Alternative names: Cadherin family member 2, Desmocollin-3, Desmosomal glycoprotein II, Desmosomal glycoprotein III

All UniProt accessions (16): A0A3B3ISU0, A0AAQ5BGM2, A0AAQ5BGP1, A0AAQ5BGP4, A0AAQ5BGP6, A0AAQ5BGQ1, Q02487, A0AAQ5BGQ3, A0AAQ5BGQ5, A0AAQ5BGR2, A0AAQ5BGR6, A0AAQ5BGR7, A0AAQ5BGT1, A0AAQ5BGT3, A0AAQ5BGT5, A0AAQ5BGU5

UniProt curated annotations — full annotation on UniProt →

Function. A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Promotes timely incorporation of DSG2 into desmosome intercellular junctions and promotes interaction of desmosome cell junctions with intermediate filament cytokeratin, via modulation of DSP phosphorylation. Plays an important role in desmosome-mediated maintenance of intestinal epithelial cell intercellular adhesion strength and barrier function. Positively regulates wound healing of intestinal mucosa via promotion of epithelial cell migration, and also plays a role in mechanotransduction of force between intestinal epithelial cells and extracellular matrix. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. May promote p38MAPK signaling activation that facilitates keratinocyte migration.

Subunit / interactions. Interacts with DSP, PKP2 and JUP. Interacts with DSG3; the interaction may limit the interaction of DSC3 with p38MAPK family members and therefore repress p38MAPK signaling activation.

Subcellular location. Cell membrane. Cell junction. Desmosome.

Tissue specificity. Expressed at intercalated disks in the heart, where it is colocalized with CDH2 (at protein level). Expressed in intestinal mucosal cells (at protein level).

Disease relevance. Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] 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. Calcium may be bound by the cadherin-like repeats. 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.

Induction. Induced in the hours following cyclic mechanical strain in keratinocytes.

Miscellaneous. Expression is decreased in the intestinal mucosa of ulcerative colitis patients, potential adversely effecting wound healing of the intestinal mucosa.

Isoforms (2)

UniProt ID	Names	Canonical?
Q02487-1	2A, DGII	yes
Q02487-2	2B, DGIII

RefSeq proteins (4): NP_001393435, NP_001393436, NP_004940, NP_077740* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000233	Cadherin_Y-type_LIR	Domain
IPR002126	Cadherin-like_dom	Domain
IPR009122	Desmosomal_cadherin	Family
IPR014868	Cadherin_pro_dom	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR027397	Catenin-bd_sf	Homologous_superfamily
IPR050971	Cadherin-domain_protein	Family

Pfam: PF00028, PF01049, PF08758

UniProt features (90 total): strand 36, sequence variant 17, turn 13, domain 5, glycosylation site 5, modified residue 3, helix 3, splice variant 2, topological domain 2, signal peptide 1, propeptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5ERP	X-RAY DIFFRACTION	2.7
5J5J	X-RAY DIFFRACTION	3.29
7A7D	ELECTRON MICROSCOPY	26

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02487-F1	77.26	0.49

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 (3): 864, 868, 873

Glycosylation sites (5): 34, 166, 392, 546, 629

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope

MSigDB gene sets: 424 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_BUNDLE_OF_HIS_CELL_TO_PURKINJE_MYOCYTE_COMMUNICATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_CIRCULATORY_SYSTEM_PROCESS, JAEGER_METASTASIS_DN, YANG_BREAST_CANCER_ESR1_LASER_DN, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, LUCAS_HNF4A_TARGETS_UP, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, DOANE_BREAST_CANCER_CLASSES_DN, ONDER_CDH1_TARGETS_3_DN, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, CHANG_IMMORTALIZED_BY_HPV31_DN

GO Biological Process (9): cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), cellular response to starvation (GO:0009267), cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042), 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), positive regulation of p38MAPK cascade (GO:1900745)

GO Molecular Function (4): calcium ion binding (GO:0005509), 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 (11): cornified envelope (GO:0001533), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), adherens junction (GO:0005912), intercalated disc (GO:0014704), desmosome (GO:0030057), cytoplasmic vesicle (GO:0031410), extracellular exosome (GO:0070062), membrane (GO:0016020), cell junction (GO:0030054), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cell-cell junction	2
cellular anatomical structure	2
cellular process	1
cell-cell adhesion	1
cellular response to nutrient levels	1
cellular response to stress	1
response to starvation	1
homotypic cell-cell adhesion	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
cell adhesion	1
regulation of cardiac muscle cell contraction	1
ventricular cardiac muscle cell action potential	1
regulation of cardiac muscle cell action potential	1
p38MAPK cascade	1
positive regulation of MAPK cascade	1
regulation of p38MAPK cascade	1
metal ion binding	1
bundle of His cell-Purkinje myocyte adhesion involved in cell communication	1
protein binding involved in heterotypic cell-cell adhesion	1
binding	1
cation binding	1
plasma membrane	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cell-cell contact zone	1
intracellular vesicle	1
extracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

1352 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DSC2	PKP2	Q99959	998
DSC2	DSP	P15924	993
DSC2	DSG2	Q14126	987
DSC2	JUP	P14923	941
DSC2	TMEM43	Q9BTV4	933
DSC2	DSG3	P32926	814
DSC2	RYR2	Q92736	770
DSC2	TGFB3	P10600	755
DSC2	PKP3	Q9Y446	751
DSC2	SOCS6	O14544	724
DSC2	LMNA	P02545	718
DSC2	LPAR6	P43657	684
DSC2	GJA1	P17302	680
DSC2	PKP1	Q13835	667
DSC2	KLHL1	Q9NR64	648

IntAct

98 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
DSC2	DSG2	psi-mi:“MI:0407”(direct interaction)	0.610
DSG2	DSC2	psi-mi:“MI:0915”(physical association)	0.610
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
GMCL1	A2ML1	psi-mi:“MI:0914”(association)	0.530
TAFA4	NRP1	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
CMA1	MANBA	psi-mi:“MI:0914”(association)	0.530
LILRA3	LILRA1	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
DSC2	DSG1	psi-mi:“MI:0407”(direct interaction)	0.440
PI4KA	A2ML1	psi-mi:“MI:0914”(association)	0.350
TIFAB	DDX3X	psi-mi:“MI:0914”(association)	0.350
NCAPD3	NDUFS8	psi-mi:“MI:0914”(association)	0.350
GABARAPL1		psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
SRRT	A2ML1	psi-mi:“MI:0914”(association)	0.350
PI4KAP1	A2ML1	psi-mi:“MI:0914”(association)	0.350
GOT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
KIR2DL4	GPR89A	psi-mi:“MI:0914”(association)	0.350
EDDM3A	PLXNA2	psi-mi:“MI:0914”(association)	0.350
NRSN1	IGLC7	psi-mi:“MI:0914”(association)	0.350
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
CERS3	IGLC7	psi-mi:“MI:0914”(association)	0.350

BioGRID (209): DSC2 (Affinity Capture-MS), DSC2 (Biochemical Activity), DSC2 (Proximity Label-MS), DSC2 (Proximity Label-MS), DSC2 (Affinity Capture-MS), DSC2 (Affinity Capture-MS), DSC2 (Affinity Capture-MS), DSC2 (Affinity Capture-MS), DSC2 (Affinity Capture-MS), DSC2 (Affinity Capture-MS), DSC2 (Affinity Capture-MS), DSC2 (Affinity Capture-MS), DSC2 (Proximity Label-MS), DSC2 (Proximity Label-MS), DSC2 (Proximity Label-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 134 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	7	60.6×	2e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	53.4×	3e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	53.4×	3e-09
Activation of BH3-only proteins	7	39.5×	3e-08
Intrinsic Pathway for Apoptosis	8	26.6×	4e-08
RHO GTPases activate PKNs	7	25.2×	7e-07
FOXO-mediated transcription	5	19.1×	1e-04
Apoptosis	8	15.3×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

2091 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	60
Likely pathogenic	37
Uncertain significance	1103
Likely benign	571
Benign	46

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068704	NM_024422.6(DSC2):c.729del (p.Phe243fs)	Pathogenic
1074769	NM_024422.6(DSC2):c.110_114del (p.Leu37fs)	Pathogenic
1075964	NM_024422.6(DSC2):c.1571del (p.Thr524fs)	Pathogenic
1319918	NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer)	Pathogenic
1322771	NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter)	Pathogenic
1359544	NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer)	Pathogenic
1381031	NM_024422.6(DSC2):c.2136dup (p.Thr713fs)	Pathogenic
1405349	NM_024422.6(DSC2):c.1053_1059del (p.His351fs)	Pathogenic
1429683	NM_024422.6(DSC2):c.1023dup (p.Ile342fs)	Pathogenic
1455627	NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs)	Pathogenic
16848	NM_024422.6(DSC2):c.1430del (p.Thr477fs)	Pathogenic
1693178	NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter)	Pathogenic
1693187	NM_024422.6(DSC2):c.501_502dup (p.Thr168fs)	Pathogenic
1694869	NM_024422.6(DSC2):c.1239del (p.Asn413fs)	Pathogenic
1741492	NM_024422.6(DSC2):c.456_458delinsCG (p.Pro153fs)	Pathogenic
1749235	NM_024422.6(DSC2):c.571_572dup (p.Asp191fs)	Pathogenic
1750194	NM_024422.6(DSC2):c.587_597del (p.Tyr196fs)	Pathogenic
1779905	NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter)	Pathogenic
1967841	NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)	Pathogenic
2024891	NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)	Pathogenic
2132520	NM_024422.6(DSC2):c.1260del (p.Lys421fs)	Pathogenic
235909	NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)	Pathogenic
2413319	NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)	Pathogenic
2426820	NC_000018.9:g.(?28681846)(28681934_?)del	Pathogenic
2426821	NC_000018.9:g.(?28673522)(28673606_?)del	Pathogenic
2705962	NM_024422.6(DSC2):c.1187dup (p.Leu396fs)	Pathogenic
2824457	NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)	Pathogenic
2835126	NM_024422.6(DSC2):c.2136del (p.Phe712fs)	Pathogenic
2866650	NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)	Pathogenic
2880847	NM_024422.6(DSC2):c.686del (p.Leu229fs)	Pathogenic

SpliceAI

4712 predictions. Top by Δscore:

Variant	Effect	Δscore
18:30994251:T:TA	donor_gain	1.0000
18:31001612:ACTT:A	donor_loss	1.0000
18:31001614:TTA:T	donor_loss	1.0000
18:31001615:TAC:T	donor_loss	1.0000
18:31001616:A:AC	donor_gain	1.0000
18:31001616:A:C	donor_loss	1.0000
18:31001616:AC:A	donor_gain	1.0000
18:31001617:C:A	donor_loss	1.0000
18:31001617:C:CC	donor_gain	1.0000
18:31001617:CC:C	donor_gain	1.0000
18:31001617:CCA:C	donor_gain	1.0000
18:31001735:TACAG:T	acceptor_gain	1.0000
18:31001737:CAG:C	acceptor_gain	1.0000
18:31001745:T:TC	acceptor_gain	1.0000
18:31001746:T:C	acceptor_gain	1.0000
18:31001746:T:TC	acceptor_gain	1.0000
18:31004140:A:AC	donor_gain	1.0000
18:31004141:C:CC	donor_gain	1.0000
18:31004141:CA:C	donor_gain	1.0000
18:31004141:CAA:C	donor_gain	1.0000
18:31004141:CAAAA:C	donor_gain	1.0000
18:31004195:A:AC	donor_gain	1.0000
18:31004198:ACT:A	donor_gain	1.0000
18:31004199:CTC:C	donor_gain	1.0000
18:31004200:TCCTG:T	donor_gain	1.0000
18:31004201:C:CA	donor_gain	1.0000
18:31004209:C:CA	donor_gain	1.0000
18:31004362:TGTAT:T	acceptor_gain	1.0000
18:31004364:TAT:T	acceptor_gain	1.0000
18:31004367:C:CC	acceptor_gain	1.0000

AlphaMissense

5901 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:31074817:C:G	C585S	0.999
18:31074818:A:T	C585S	0.999
18:31086634:A:G	F295S	0.999
18:31087733:A:C	N237K	0.999
18:31087733:A:T	N237K	0.999
18:31087741:C:G	D235H	0.999
18:31074702:C:A	W623C	0.998
18:31074702:C:G	W623C	0.998
18:31080243:A:T	V458D	0.998
18:31086613:C:T	G302D	0.998
18:31086674:A:C	Y282D	0.998
18:31086706:T:G	D271A	0.998
18:31086707:C:G	D271H	0.998
18:31086718:G:T	A267D	0.998
18:31087722:G:T	P241Q	0.998
18:31087731:T:G	D238A	0.998
18:31087734:T:A	N237I	0.998
18:31089461:C:G	R203P	0.998
18:31091065:T:A	E146V	0.998
18:31091093:A:G	W137R	0.998
18:31091093:A:T	W137R	0.998
18:31074816:G:C	C585W	0.997
18:31074817:C:T	C585Y	0.997
18:31074818:A:G	C585R	0.997
18:31080237:A:T	V460D	0.997
18:31083024:C:G	D327H	0.997
18:31086607:A:C	I304S	0.997
18:31086607:A:T	I304N	0.997
18:31086613:C:A	G302V	0.997
18:31086673:T:G	Y282S	0.997

dbSNP variants (sampled 300 via entrez): RS1000001010 (18:31096727 C>A,T), RS1000032096 (18:31097049 G>A), RS1000067710 (18:31095740 A>G), RS1000137518 (18:31059322 C>T), RS1000146645 (18:31090088 A>G,T), RS1000156973 (18:31063116 A>C), RS1000181717 (18:31082109 C>T), RS1000190398 (18:31059488 A>G), RS1000372893 (18:31102312 G>A), RS1000375661 (18:31065548 T>G), RS1000490164 (18:31075115 T>C,G), RS1000498331 (18:31101135 A>T), RS1000525968 (18:31058342 T>G), RS1000714538 (18:31077003 C>G,T), RS1000763858 (18:31064503 A>C)

Disease associations

OMIM: gene MIM:125645 | disease phenotypes: MIM:610476, MIM:107970, MIM:115200, MIM:192600, MIM:613426, MIM:609040, MIM:610193, MIM:612877

GenCC curated gene-disease

Disease	Classification	Inheritance
arrhythmogenic right ventricular dysplasia 11	Definitive	Semidominant
colorectal adenoma	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
familial isolated arrhythmogenic right ventricular dysplasia	Definitive	AD

Mondo (18): arrhythmogenic right ventricular dysplasia 11 (MONDO:0012506), cardiomyopathy (MONDO:0004994), familial isolated arrhythmogenic right ventricular dysplasia (MONDO:0016342), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587), dilated cardiomyopathy (MONDO:0005021), arrhythmogenic right ventricular dysplasia 1 (MONDO:0007152), cardiac rhythm disease (MONDO:0007263), long QT syndrome (MONDO:0002442), hypertrophic cardiomyopathy (MONDO:0005045), dilated cardiomyopathy 1A (MONDO:0007269), familial hypertrophic cardiomyopathy (MONDO:0024573), familial dilated cardiomyopathy (MONDO:0016333), dilated cardiomyopathy 1S (MONDO:0013262), arrhythmogenic right ventricular dysplasia 9 (MONDO:0012180), arrhythmogenic right ventricular dysplasia 10 (MONDO:0012434)

Orphanet (12): Rare cardiomyopathy (Orphanet:167848), Inherited isolated arrhythmogenic cardiomyopathy (Orphanet:217656), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Dilated cardiomyopathy (Orphanet:217604), Uhl anomaly (Orphanet:3403), Rare hypertrophic cardiomyopathy (Orphanet:217569), Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Familial dilated cardiomyopathy (Orphanet:217607), Familial isolated dilated cardiomyopathy (Orphanet:154), Left ventricular noncompaction (Orphanet:54260), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155)

HPO phenotypes

14 total (16 of 14 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000982	Palmoplantar keratoderma
HP:0001279	Syncope
HP:0001645	Sudden cardiac death
HP:0001962	Palpitations
HP:0002094	Dyspnea
HP:0002224	Woolly hair
HP:0003584	Late onset
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0004308	Ventricular arrhythmia
HP:0011462	Young adult onset
HP:0011663	Right ventricular cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001639	Hypertrophic cardiomyopathy

GWAS associations

0 associations (top):

MeSH disease descriptors (13)

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
D006323	Heart Arrest	C14.280.383
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.)
C566471	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 (supp.)
C563808	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (supp.)
C567877	Cardiomyopathy, Dilated, 1BB (supp.)
C563538	Cardiomyopathy, Dilated, 1s (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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	6
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
perfluorooctane sulfonic acid	decreases expression	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	affects cotreatment, increases expression, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, affects methylation	2
Calcitriol	decreases expression, increases expression, affects cotreatment	2
Cisplatin	affects cotreatment, decreases expression, affects expression, decreases response to substance	2
Estradiol	affects cotreatment, increases expression, decreases expression, decreases reaction	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, increases abundance	2
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
sodium arsenate	decreases expression, increases abundance	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, increases expression, affects localization, decreases expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
dibenzo(a,l)pyrene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
3-nitrobenzanthrone	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 hybrid cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0Z6	Ubigene MGC-803 DSC2 KO	Hybrid cell line

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01767870	PHASE4	UNKNOWN	Efficacy Combined Fecal Immunochemical Test-Sigmoidoscopy for the Detection of Advanced Colorectal Neoplasia
NCT07167342	PHASE4	RECRUITING	The Effect of Oral Clostridium Butyricum on the Recurrence After Colonoscopic Resection of Colorectal Adenoma
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
NCT00141193	PHASE3	COMPLETED	Prevention of Colorectal Sporadic Adenomatous Polyps (PRESAP)
NCT00282386	PHASE3	COMPLETED	A Study to Evaluate the Effect of MK0966 (Rofecoxib) on the Recurrence of Colorectal Adenomas (0966-122)
NCT01437826	PHASE3	TERMINATED	Antioxidant Supplement and Reduction of Metachronous Adenomas of the Large Bowel: a Double Blind Randomized Trial
NCT07505056	PHASE3	NOT_YET_RECRUITING	Jianpi Lishi Jiedu Granules for Prevention of Postoperative Recurrence in Colorectal Advanced Adenomas
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