DES

Summary

DES (desmin, HGNC:2770) is a protein-coding gene on chromosome 2q35, encoding Desmin (P17661). Muscle-specific type III intermediate filament essential for proper muscular structure and function.

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.

Source: NCBI Gene 1674 — RefSeq curated summary.

At a glance

• Gene–disease (curated): dilated cardiomyopathy 1I (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 83
• Clinical variants (ClinVar): 1,335 total — 62 pathogenic, 42 likely-pathogenic
• Phenotypes (HPO): 61
• MANE Select transcript: NM_001927

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2770
Approved symbol	DES
Name	desmin
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	CMD1I, CSM1, CSM2, LGMD2R
Ensembl gene	ENSG00000175084
Ensembl biotype	protein_coding
OMIM	125660
Entrez	1674

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 31 protein_coding, 4 retained_intron

ENST00000373960, ENST00000477226, ENST00000483395, ENST00000492726, ENST00000683013, ENST00000868989, ENST00000868990, ENST00000868991, ENST00000868992, ENST00000868993, ENST00000868994, ENST00000868995, ENST00000868996, ENST00000868997, ENST00000868998, ENST00000868999, ENST00000869000, ENST00000869001, ENST00000869002, ENST00000942891, ENST00000942892, ENST00000942893, ENST00000942894, ENST00000942895, ENST00000942896, ENST00000942897, ENST00000942898, ENST00000942899, ENST00000942900, ENST00000942901, ENST00000942902, ENST00000942903, ENST00000942904, ENST00000942905, ENST00000942906

RefSeq mRNA: 7 — MANE Select: NM_001927 NM_001382708, NM_001382709, NM_001382710, NM_001382711, NM_001382712, NM_001382713, NM_001927

CCDS: CCDS33383

Canonical transcript exons

ENST00000373960 — 9 exons

Exon	Start	End
ENSE00001147285	219420095	219420155
ENSE00001147439	219425663	219425745
ENSE00001462010	219425949	219426734
ENSE00001462013	219418377	219419040
ENSE00003493309	219420251	219420346
ENSE00003509416	219420828	219420953
ENSE00003548407	219420495	219420656
ENSE00003583585	219421340	219421560
ENSE00003629786	219423777	219423820

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 99.97.

FANTOM5 (CAGE): breadth broad, TPM avg 126.3241 / max 14066.4829, expressed in 640 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25449	121.3299	503
25452	1.2114	204
25472	0.7786	99
25458	0.4510	84
25473	0.4147	81
25471	0.3741	80
25459	0.3691	79
25457	0.2971	68
25453	0.2725	103
25455	0.2634	65

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.97	gold quality
saphenous vein	UBERON:0007318	99.97	gold quality
gastrocnemius	UBERON:0001388	99.96	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.96	gold quality
mucosa of stomach	UBERON:0001199	99.95	gold quality
lower esophagus	UBERON:0013473	99.95	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.95	gold quality
right atrium auricular region	UBERON:0006631	99.94	gold quality
cardiac atrium	UBERON:0002081	99.93	gold quality
cardiac ventricle	UBERON:0002082	99.92	gold quality
heart left ventricle	UBERON:0002084	99.92	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.91	gold quality
left ventricle myocardium	UBERON:0006566	99.90	gold quality
diaphragm	UBERON:0001103	99.88	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.88	gold quality
body of uterus	UBERON:0009853	99.86	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.85	gold quality
popliteal artery	UBERON:0002250	99.84	gold quality
tibial artery	UBERON:0007610	99.84	gold quality
left uterine tube	UBERON:0001303	99.82	gold quality
body of tongue	UBERON:0011876	99.82	gold quality
gluteal muscle	UBERON:0002000	99.79	gold quality
lower esophagus mucosa	UBERON:0035834	99.79	gold quality
gall bladder	UBERON:0002110	99.77	gold quality
urethra	UBERON:0000057	99.76	gold quality
skeletal muscle tissue	UBERON:0001134	99.74	gold quality
tibialis anterior	UBERON:0001385	99.74	gold quality
myocardium	UBERON:0002349	99.72	gold quality
triceps brachii	UBERON:0001509	99.69	gold quality
vena cava	UBERON:0004087	99.68	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	18732.24
E-MTAB-8410	yes	5781.13
E-MTAB-10287	yes	3865.86
E-HCAD-24	yes	2572.77
E-HCAD-56	yes	1634.58
E-MTAB-10662	yes	500.65
E-HCAD-30	yes	281.77
E-MTAB-6701	yes	62.58
E-HCAD-1	yes	30.95
E-MTAB-11268	no	1218.07
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DLX3, FOXC2, MEF2A, MEF2C, MEF2D, MYF5, MYF6, MYOD1, MYOG, RARB, SP7, STAT2, TBP, TBXT, TP63, TRIM16

miRNA regulators (miRDB)

62 targeting DES, 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-6873-3P	100.00	71.42	2626
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-1224-5P	99.48	65.59	803
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-4284	99.36	65.25	1293

Literature-anchored findings (GeneRIF, showing 40)

• structural and functional analysis of a new variant causing desmin-related myopathy (PMID:11668632)
• nebulin colocalizes with desmin in a Z-line-associated, striated pattern, thereby forming a lateral linkage system which contributes to maintain adjacent Z-lines in register as shown by immunofluorescence studies (PMID:12064939)
• N-desmin has a role as a dominant-negative inhibitor of filament assembly, both for desmin and the structurally related intermediate filament protein vimentin (PMID:12477713)
• Expression studies demonstrated inability of the N342D mutant desmin to form cellular filamentous network, confirming the pathogenic role of this mutation, but the network was not affected by the tail-domain I451M mutation. (PMID:12609507)
• desmin mutants have a role in biochemical properties of mitochondria in diseased human skeletal muscle (PMID:12620971)
• Desmin appears to increase as the force generating capacity of the muscle increases. (PMID:15468102)
• A novel heterozygous Glu245Asp (E245D) missense mutation in exon 3 of the desmin gene (DES) at 2q35 in patient of restrictive cardiomyopathy. (PMID:15759133)
• A novel desmin R355P mutation has been identified in a patient with familial cardiac and skeletal myopathy. (PMID:16009553)
• data demonstrate a time course for muscular adaptation to resistance training in which desmin increases shortly after strength gains and in conjunction with hypertrophy, but before changes in MHC isoforms, whereas dystrophin remains unchanged (PMID:16439510)
• characterization of a muscle-cell-specific LCR, which is linked to the desmin gene (PMID:16545539)
• We propose that two in-frame deletions of one and three amino acids cause subtle age-dependent structural alterations of desmin IFs that eventually lead to disease. (PMID:17188893)
• Five novel missense DES mutations including the first localized to the highly conserved 1A domain were detected in 6 subjects (1.4%)Mutations in the 1A helical domain, as well as the 2B rod domain, are capable of causing a dilated cardiomyopathy phenotype (PMID:17325244)
• Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. (PMID:17418574)
• Desmin plays a role in mechanical, structural and regulatory functions of the cardiomyocyte Disturbances in its activity is associated with worsening of heart failure. (PMID:17436150)
• Desmin mutations should be considered a relatively rare cause of dilated cardiomyopathy in the St. Petersburg area of Russia. (PMID:17626518)
• two distantly related Dutch families with autosomal dominant inheritance of desmin-related myopathy affecting 15 family members (PMID:17720647)
• perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin (PMID:17872945)
• Removal of antibodies by immunoadsorption modulates myocardial gene expression of desmin in dilated cardiomyopathy patients. (PMID:17924085)
• Desmin myopathy was identified in a Chinese man with complete heart block and mild proximal and distal limb weakness (PMID:18061454)
• demonstration that IL8, DES and ENO1 act as the central elements in colon cancer susceptibility, and protein biosynthesis and the ribosome-associated function categories largely account for the colon cancer tumuorigenesis (PMID:18691435)
• Desmin E245D mutation interferes with the ability of nebulin to precisely regulate thin filament lengths. (PMID:19005210)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• immunohistochemistry, using a panel composed of desmin, smoothelin, and vimentin, may be potentially useful for staging of bladder carcinoma (PMID:19252475)
• Data showed that the elevated expression of desmin was correlated with the severity and differentiation of CRC. (PMID:19460759)
• There are distinct patterns of histone H3 and H4 acetylation and H3 methylation at the promoter and intragenic region of DES. (PMID:19473514)
• The “head” mutations in desmin proteins impacting on intermediate filament assembly properties and their competition for binding to cellular anchoring structures might explain part of the molecular mechanism that causes myhofibrillar myopathy disease. (PMID:19763525)
• A localized effect of desmin on the structure of the cardiac intercalated disks might contribute to disease pathogenesis (PMID:19879535)
• The Uruguayan family with severe cardiomyopathy carries an unusual deletion p.E114del within the 1A rod domain of desmin. (PMID:20133133)
• the “tail” domain is responsible for attractive filament-filament interactions (PMID:20171226)
• Desmin mutations affects the localization of desmoplakin and plakophilin-2 at the intercalated disk suggesting a link between desmosomal cardiomyopathies (mainly affecting the right ventricle) and cardiomyopathies caused by desmin mutations. (PMID:20423733)
• study of aggregation properties of desmin in vitro & aggregation state of desmin in homogenates of transfected cells; detected divergent assembly patterns for 3 different desmin missense mutations (PMID:20448486)
• Novel mutations of desmin gene were linked with cardiomyopathy in patients from 5 Chinese families with desminopathy. (PMID:20654101)
• Six novel mutations and one previously reported mutation in the desmin gene were identified in the patients (PMID:20696008)
• study provides evidence on functional consequences of a novel mutation, N116S, identified in the desmin 1A segment of the rod domain for the development of arrhythmogenic right ventricular cardiomyopathy (PMID:20829228)
• Case Report: present a rare case of desmin-related hypertrophic cardiomyopathy. Cardiac magnetic resonance imaging revealed fibrosis in the lateral wall of the left ventricle. (PMID:21083940)
• mutations in MTM1 disrupted the MTM1-desmin complex, resulting in abnormal intermediate filament assembly and architecture in muscle cells (PMID:21135508)
• the state of desmin-filament assembly is crucial for synemin anchorage and consequently might involve mechanical and functional stability of the cytoskeletal network (PMID:21262226)
• strong down-regulation of MCK activity contributes to F-actin instability and induces post-translational modification of alphaB-crystallin and desmin (PMID:21768101)
• these studies highlight the importance of desmin in maintaining cardiomyocyte structure and illustrate how disrupting this network can be deleterious to the heart–{REVIEW} (PMID:21784990)
• study of patients with heart dilation of various origins; conclude A213V desmin substitution represents a rare polymorphism that plays role as predisposing factor resulting in maladaptive heart remodelling in presence of other pathological factors (PMID:21842594)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	desmb	ENSDARG00000005221
danio_rerio	desma	ENSDARG00000058656
mus_musculus	Des	ENSMUSG00000026208
rattus_norvegicus	Des	ENSRNOG00000019810

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360)

Protein

Protein identifiers

Desmin — P17661 (reviewed: P17661)

All UniProt accessions (2): P17661, Q53SB5

UniProt curated annotations — full annotation on UniProt →

Function. Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Required for nuclear membrane integrity, via anchoring at the cell tip and nuclear envelope, resulting in maintenance of microtubule-derived intracellular mechanical forces. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin.

Subunit / interactions. Homomer. Interacts with DST. Interacts with MTM1. Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament. Interacts with CRYAB. Interacts with NEB (via nebulin repeats 160-164). Interacts (via rod region) with NEBL (via nebulin repeats 1-5). Interacts with ASB2 isoform 1; the interaction targets DES for proteasomal degradation. Interacts with PLEC isoform 1C. Interacts with PKP1. Interacts with FLII.

Subcellular location. Cytoplasm. Myofibril. Sarcomere. Z line. Cell membrane. Sarcolemma. Nucleus. Cell tip. Nucleus envelope.

Post-translational modifications. ADP-ribosylation prevents ability to form intermediate filaments. Phosphorylation at Ser-7, Ser-28 and Ser-32 by CDK1, phosphorylation at Ser-60 by AURKB and phosphorylation at Thr-76 by ROCK1 contribute to efficient separation of desmin intermediate filaments during mitosis. Ubiquitination by a SCF-like complex containing ASB2 isoform 1 leads to proteasomal degradation.

Disease relevance. Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. The disease is caused by variants affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease. Cardiomyopathy, dilated, 1I (CMD1I) [MIM:604765] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400] Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (7): NP_001369637, NP_001369638, NP_001369639, NP_001369640, NP_001369641, NP_001369642, NP_001918* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006821	Intermed_filament_DNA-bd	Domain
IPR018039	IF_conserved	Conserved_site
IPR039008	IF_rod_dom	Domain
IPR050405	Intermediate_filament	Family

Pfam: PF00038, PF04732

UniProt features (82 total): sequence variant 41, modified residue 21, region of interest 11, sequence conflict 4, mutagenesis site 2, initiator methionine 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P17661-F1	77.73	0.56

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 (21): 7, 12, 16, 17, 28, 31, 32, 37, 37, 45, 58, 60, 68, 70, 76, 77, 81, 290, 358, 361 …

Mutagenesis-validated functional residues (2):

Position	Phenotype
120	results in impaired filaments formation.
120	does not result in impaired filaments formation.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-390522	Striated Muscle Contraction

MSigDB gene sets: 279 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, MYOGENIN_Q6, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, MODULE_255, GCANCTGNY_MYOD_Q6, OHASHI_AURKB_TARGETS, MODULE_317, MODULE_128, CAGCTG_AP4_Q5, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GNF2_MYL3, SP1_Q2_01, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT

GO Biological Process (6): muscle contraction (GO:0006936), nuclear envelope organization (GO:0006998), cytoskeleton organization (GO:0007010), regulation of heart contraction (GO:0008016), intermediate filament organization (GO:0045109), skeletal muscle organ development (GO:0060538)

GO Molecular Function (4): structural constituent of cytoskeleton (GO:0005200), cytoskeletal protein binding (GO:0008092), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (20): nucleus (GO:0005634), nuclear envelope (GO:0005635), cytosol (GO:0005829), intermediate filament (GO:0005882), cell-cell junction (GO:0005911), fascia adherens (GO:0005916), intercalated disc (GO:0014704), Z disc (GO:0030018), neuromuscular junction (GO:0031594), sarcolemma (GO:0042383), intermediate filament cytoskeleton (GO:0045111), cell tip (GO:0051286), extracellular exosome (GO:0070062), cardiac myofibril (GO:0097512), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020), contractile muscle fiber (GO:0043292), supramolecular fiber (GO:0099512)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoskeleton	2
protein binding	2
cytoplasm	2
intracellular membraneless organelle	2
muscle system process	1
nucleus organization	1
endomembrane system organization	1
membrane organization	1
organelle organization	1
heart contraction	1
regulation of blood circulation	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
muscle organ development	1
structural molecule activity	1
cytoskeleton organization	1
binding	1
intracellular membrane-bounded organelle	1
nucleus	1
endomembrane system	1
organelle envelope	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
anchoring junction	1
cell-cell junction	1
intercalated disc	1
cell-cell contact zone	1
I band	1
synapse	1
plasma membrane	1
cell pole	1
extracellular vesicle	1
myofibril	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
supramolecular fiber	1
supramolecular polymer	1

Protein interactions and networks

STRING

2038 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DES	MAML1	Q92585	855
DES	PLEC	Q15149	835
DES	SYNC	Q9H7C4	825
DES	FHOD3	Q2V2M9	761
DES	HINT1	P49773	742
DES	DTNA	Q9Y4J8	724
DES	TRIM29	Q14134	711
DES	FHOD1	Q9Y613	695
DES	DMD	P11532	650
DES	TXNDC9	O14530	643
DES	DSP	P15924	618
DES	CDH1	P12830	612
DES	CDC14A	Q9UNH5	562
DES	SIRT2	Q8IXJ6	558
DES	FMNL3	Q8IVF7	548

IntAct

253 interactions, top by confidence:

A	B	Type	Score
VIM	NEFL	psi-mi:“MI:0914”(association)	0.840
NEFL	DES	psi-mi:“MI:0915”(physical association)	0.830
DES	VIM	psi-mi:“MI:0915”(physical association)	0.820
VIM	DES	psi-mi:“MI:0915”(physical association)	0.820
NEFM	NEFL	psi-mi:“MI:0914”(association)	0.800
GFAP	DES	psi-mi:“MI:0915”(physical association)	0.780
DES	PRPH	psi-mi:“MI:0915”(physical association)	0.780
DES	GFAP	psi-mi:“MI:0915”(physical association)	0.780
DES	EHHADH	psi-mi:“MI:0915”(physical association)	0.720
DES	PPP1R18	psi-mi:“MI:0915”(physical association)	0.720
PPP1R18	DES	psi-mi:“MI:0915”(physical association)	0.720
DES	DES	psi-mi:“MI:0915”(physical association)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
MLH1	DES	psi-mi:“MI:0915”(physical association)	0.600
DES	MLH1	psi-mi:“MI:0915”(physical association)	0.600

BioGRID (195): DES (Two-hybrid), DES (Two-hybrid), EHHADH (Two-hybrid), UBE2I (Two-hybrid), PPP1R18 (Two-hybrid), DES (Affinity Capture-RNA), BRCA1 (Two-hybrid), DES (Two-hybrid), DES (Affinity Capture-MS), DES (Affinity Capture-MS), DES (Affinity Capture-MS), DES (Affinity Capture-MS), DES (Affinity Capture-MS), DES (Affinity Capture-MS), DES (Affinity Capture-MS)

ESM2 similar proteins: A0A125S9M4, A0A125S9M5, A0A125S9M6, A0A8C0N8E3, O62654, P02540, P02541, P02542, P02543, P02544, P02545, P08552, P08670, P09654, P10999, P11048, P14732, P16275, P17661, P20152, P21910, P22488, P23239, P23729, P24789, P24790, P31000, P31001, P31393, P35617, P48616, P48670, P48673, P48674, P48675, P48676, P48678, P48679, P84198, Q03427

Diamond homologs: A0A8C0N8E3, A5A6M8, A5A6N0, A6QQJ3, B4F721, O62654, O77788, O93532, O95678, P02538, P02540, P02541, P02542, P02543, P02544, P02547, P02548, P03995, P04259, P05786, P05787, P07196, P07197, P08551, P08552, P08553, P08670, P08729, P08776, P09654, P11679, P12035, P12036, P12839, P13647, P14136, P15331, P16053, P16878, P16884

SIGNOR signaling

13 interactions.

A	Effect	B	Mechanism
ROCK1	unknown	DES	phosphorylation
CDK1	“down-regulates quantity by destabilization”	DES	phosphorylation
MYF5	“up-regulates quantity by expression”	DES	“transcriptional regulation”
MYF6	“up-regulates quantity by expression”	DES	“transcriptional regulation”
MYOG	“up-regulates quantity by expression”	DES	“transcriptional regulation”
MEF2D	“up-regulates quantity by expression”	DES	“transcriptional regulation”
MYOD1	“down-regulates quantity by repression”	DES	“transcriptional regulation”
AURKB	down-regulates	DES	phosphorylation
ROCK1	down-regulates	DES	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 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
mRNA Splicing	6	12.9×	9e-04
Formation of the cornified envelope	7	12.1×	6e-04
Processing of Capped Intron-Containing Pre-mRNA	6	9.7×	3e-03
mRNA Splicing - Major Pathway	7	7.5×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	10	34.9×	1e-10
morphogenesis of an epithelium	5	24.9×	5e-04
epithelial cell differentiation	6	15.3×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

1335 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	62
Likely pathogenic	42
Uncertain significance	686
Likely benign	360
Benign	27

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069497	NM_001927.4(DES):c.525_526del (p.Val176fs)	Pathogenic
1073348	NM_001927.4(DES):c.309del (p.Thr104fs)	Pathogenic
1075242	NM_001927.4(DES):c.194dup (p.Leu66fs)	Pathogenic
1075297	NM_001927.4(DES):c.452_459del (p.Val151fs)	Pathogenic
1322203	NM_001927.4(DES):c.720_722del (p.Lys241del)	Pathogenic
1334101	NM_001927.4(DES):c.700G>T (p.Glu234Ter)	Pathogenic
1425778	NM_001927.4(DES):c.599T>A (p.Leu200Ter)	Pathogenic
1453500	NM_001927.4(DES):c.112del (p.Ala38fs)	Pathogenic
1453987	NM_001927.4(DES):c.1090C>T (p.Gln364Ter)	Pathogenic
1675841	NM_001927.4(DES):c.1289-741G>A	Pathogenic
16821	NM_001927.4(DES):c.1078G>C (p.Ala360Pro)	Pathogenic
16823	NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)	Pathogenic
16830	NM_001927.4(DES):c.1166A>C (p.Gln389Pro)	Pathogenic
16834	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	Pathogenic
16835	NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	Pathogenic
180206	NM_001927.4(DES):c.639+4_639+5del	Pathogenic
1916236	NM_001927.4(DES):c.343C>T (p.Leu115Phe)	Pathogenic
1988221	NM_001927.4(DES):c.1171del (p.Leu391fs)	Pathogenic
2091637	NM_001927.4(DES):c.525_526dup (p.Val176fs)	Pathogenic
2132276	NM_001927.4(DES):c.300dup (p.Phe101fs)	Pathogenic
2169507	NM_001927.4(DES):c.343C>A (p.Leu115Ile)	Pathogenic
2171104	NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)	Pathogenic
2424322	NC_000002.11:g.(?220283185)(220290712_?)del	Pathogenic
2579220	GRCh38/hg38 2q35(chr2:219420345-219431647)x1	Pathogenic
265817	NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer)	Pathogenic
2663344	NM_001927.4(DES):c.757C>T (p.Gln253Ter)	Pathogenic
285007	NM_001927.4(DES):c.373A>T (p.Lys125Ter)	Pathogenic
285337	NM_001927.4(DES):c.1213del (p.Tyr405fs)	Pathogenic
2882126	NM_001927.4(DES):c.578+2T>C	Pathogenic
2937905	NM_001927.4(DES):c.249C>A (p.Tyr83Ter)	Pathogenic

SpliceAI

1036 predictions. Top by Δscore:

Variant	Effect	Δscore
2:219419036:GCCAA:G	donor_gain	1.0000
2:219419037:CCAAG:C	donor_loss	1.0000
2:219419039:AAGT:A	donor_loss	1.0000
2:219419040:AG:A	donor_loss	1.0000
2:219419041:G:GG	donor_gain	1.0000
2:219420079:T:TA	acceptor_gain	1.0000
2:219420083:T:TA	acceptor_gain	1.0000
2:219420089:A:AG	acceptor_gain	1.0000
2:219420093:A:AG	acceptor_gain	1.0000
2:219420093:AG:A	acceptor_gain	1.0000
2:219420094:G:GT	acceptor_gain	1.0000
2:219420094:GG:G	acceptor_gain	1.0000
2:219420094:GGCT:G	acceptor_gain	1.0000
2:219420151:GAGCG:G	donor_gain	1.0000
2:219420152:AGCG:A	donor_gain	1.0000
2:219420152:AGCGG:A	donor_loss	1.0000
2:219420153:GCG:G	donor_gain	1.0000
2:219420153:GCGG:G	donor_gain	1.0000
2:219420154:CG:C	donor_gain	1.0000
2:219420155:GG:G	donor_gain	1.0000
2:219420156:G:C	donor_loss	1.0000
2:219420156:G:GG	donor_gain	1.0000
2:219420157:T:A	donor_loss	1.0000
2:219420238:T:A	acceptor_gain	1.0000
2:219420239:G:A	acceptor_gain	1.0000
2:219420249:A:AG	acceptor_gain	1.0000
2:219420249:AG:A	acceptor_gain	1.0000
2:219420249:AGGAC:A	acceptor_gain	1.0000
2:219420250:G:GT	acceptor_gain	1.0000
2:219420250:GG:G	acceptor_gain	1.0000

AlphaMissense

3055 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:219418797:T:C	L112P	1.000
2:219418806:T:C	L115P	1.000
2:219418815:G:C	R118P	1.000
2:219418818:T:C	F119S	1.000
2:219420263:G:C	A218P	1.000
2:219420285:T:C	L225P	1.000
2:219420323:T:C	F238L	1.000
2:219420325:C:A	F238L	1.000
2:219420325:C:G	F238L	1.000
2:219420580:T:A	L274H	1.000
2:219420580:T:C	L274P	1.000
2:219420633:G:C	A292P	1.000
2:219420838:T:C	L303P	1.000
2:219421350:T:C	L345P	1.000
2:219421470:T:C	L385P	1.000
2:219421488:T:C	L391P	1.000
2:219421491:T:C	L392P	1.000
2:219421499:A:G	K395E	1.000
2:219421501:G:C	K395N	1.000
2:219421501:G:T	K395N	1.000
2:219421505:G:C	A397P	1.000
2:219421509:T:A	L398Q	1.000
2:219421509:T:C	L398P	1.000
2:219421517:G:A	E401K	1.000
2:219421518:A:G	E401G	1.000
2:219421518:A:T	E401V	1.000
2:219421519:G:C	E401D	1.000
2:219421519:G:T	E401D	1.000
2:219421521:T:A	I402N	1.000
2:219421521:T:C	I402T	1.000

dbSNP variants (sampled 300 via entrez): RS1000577982 (2:219419308 T>A), RS1001596075 (2:219421071 A>G), RS1002162616 (2:219419554 C>G,T), RS1002215204 (2:219426764 C>T), RS1002831932 (2:219422740 A>G), RS1003167763 (2:219423079 T>G), RS1003658106 (2:219424661 T>C), RS1004969813 (2:219417829 C>T), RS1005001062 (2:219417610 G>A,C), RS1005101907 (2:219424891 G>A), RS1005542355 (2:219424280 G>A), RS1005587037 (2:219424489 G>A), RS1005654641 (2:219417595 G>A), RS1006008380 (2:219418905 C>T), RS1006665509 (2:219425575 C>A,T)

Disease associations

OMIM: gene MIM:125660 | disease phenotypes: MIM:601419, MIM:615325, MIM:181400, MIM:604765, MIM:113900, MIM:115200, MIM:192600, MIM:613426, MIM:609040, MIM:142340

GenCC curated gene-disease

Disease	Classification	Inheritance
myofibrillar myopathy 1	Definitive	Semidominant
dilated cardiomyopathy 1I	Definitive	Autosomal dominant
atrioventricular block	Strong	Autosomal dominant
arrhythmogenic right ventricular cardiomyopathy	Strong	Autosomal dominant
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant
neurogenic scapuloperoneal syndrome, Kaeser type	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
dilated cardiomyopathy 1I	Definitive	AD
arrhythmogenic right ventricular cardiomyopathy	Moderate	AD

Mondo (20): myofibrillar myopathy 1 (MONDO:0011076), neurogenic scapuloperoneal syndrome, Kaeser type (MONDO:0008407), dilated cardiomyopathy 1I (MONDO:0011482), cardiomyopathy (MONDO:0004994), progressive familial heart block (MONDO:0019490), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587), limb-girdle muscular dystrophy (MONDO:0016971), dilated cardiomyopathy (MONDO:0005021), familial dilated cardiomyopathy (MONDO:0016333), neuromuscular disease (MONDO:0019056), dilated cardiomyopathy 1A (MONDO:0007269), familial hypertrophic cardiomyopathy (MONDO:0024573), dilated cardiomyopathy 1S (MONDO:0013262), arrhythmogenic right ventricular dysplasia 9 (MONDO:0012180), congenital diaphragmatic hernia (MONDO:0005711)

Orphanet (18): Autosomal recessive limb-girdle muscular dystrophy type 2R (Orphanet:363543), Desminopathy (Orphanet:98909), Familial isolated dilated cardiomyopathy (Orphanet:154), Neurogenic scapuloperoneal syndrome, Kaeser type (Orphanet:85146), Rare cardiomyopathy (Orphanet:167848), Hereditary progressive cardiac conduction defect (Orphanet:871), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Limb-girdle muscular dystrophy (Orphanet:263), Dilated cardiomyopathy (Orphanet:217604), Familial dilated cardiomyopathy (Orphanet:217607), Neuromuscular disease (Orphanet:68381), Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Left ventricular noncompaction (Orphanet:54260), Congenital diaphragmatic hernia (Orphanet:2140)

HPO phenotypes

61 total (30 of 61 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000467	Neck muscle weakness
HP:0000771	Gynecomastia
HP:0000969	Edema
HP:0001283	Bulbar palsy
HP:0001288	Gait disturbance
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001662	Bradycardia
HP:0001678	Atrioventricular block
HP:0001709	Third degree atrioventricular block
HP:0001723	Restrictive cardiomyopathy
HP:0001727	Thromboembolic stroke
HP:0001762	Talipes equinovarus
HP:0002014	Diarrhea
HP:0002015	Dysphagia
HP:0002019	Constipation
HP:0002460	Distal muscle weakness
HP:0002505	Loss of ambulation
HP:0002522	Areflexia of lower limbs
HP:0002600	Hyporeflexia of lower limbs
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003236	Elevated circulating creatine kinase concentration

GWAS associations

83 associations (top):

Study	Trait	p-value
GCST003818_86	Resting heart rate	1.000000e-20
GCST010796_1000	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-20
GCST010796_1050	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_1051	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-13
GCST010796_1052	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-13
GCST010796_1053	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-10
GCST010796_1054	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-10
GCST010796_1055	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_1056	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_1057	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_1058	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-13
GCST010796_1059	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-14
GCST010796_1060	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-13
GCST010796_1061	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-14
GCST010796_1062	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-14
GCST010796_1063	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-13
GCST010796_1064	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-11
GCST010796_1065	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-12
GCST010796_1066	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-16
GCST010796_1067	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-17
GCST010796_1068	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-19
GCST010796_1069	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-19
GCST010796_1070	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-17
GCST010796_1071	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-17
GCST010796_1072	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-17
GCST010796_1073	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-16
GCST010796_1075	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-21
GCST010796_1126	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_1127	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_1128	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography

MeSH disease descriptors (16)

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
D054537	Atrioventricular Block	C14.280.067.558.230; C14.280.123.500.230; C23.550.073.425.062
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
D065630	Hernias, Diaphragmatic, Congenital	C16.131.433; C23.300.707.960.500.116
D008531	Megacolon	C06.405.469.158.701
D049288	Muscular Dystrophies, Limb-Girdle	C05.651.534.500.280; C10.668.491.175.500.149; C16.320.577.280
D009468	Neuromuscular Diseases	C10.668
C563808	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (supp.)
C565752	Cardiomyopathy, Dilated, 1i (supp.)
C563538	Cardiomyopathy, Dilated, 1s (supp.)
C580316	Myofibrillar Myopathy (supp.)
C566695	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (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

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

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	decreases expression	3
Tretinoin	affects expression, decreases expression, increases expression	3
bisphenol A	affects expression, decreases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Nickel	decreases expression	2
Progesterone	affects cotreatment, decreases expression	2
bufotalin	decreases expression	1
propargylglycine	decreases reaction, decreases expression	1
trimellitic anhydride	decreases expression	1
sulforaphane	affects binding	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	decreases expression	1
triphenyltin	decreases expression	1
boric acid	affects expression	1
diallyl trisulfide	affects cotreatment, decreases expression, decreases reaction	1
tributyltinisothiocyanate	decreases expression	1
2,7-dihydroxynaphthalene	decreases expression	1
clothianidin	increases expression	1
incobotulinumtoxinA	decreases expression	1
Celecoxib	increases expression, affects reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Artesunate	decreases reaction, decreases expression	1
Azacitidine	increases expression, affects cotreatment	1
Bleomycin	decreases expression	1
Cadmium	increases expression	1
Cuprizone	increases expression	1
Deferoxamine	decreases expression, decreases reaction, increases expression	1
Bucladesine	affects cotreatment, increases expression	1

Cellosaurus cell lines

14 cell lines: 14 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_C9DY	INSRMi012-A	Induced pluripotent stem cell	Male
CVCL_C9DZ	INSRMi012-B	Induced pluripotent stem cell	Male
CVCL_C9E0	INSRMi012-C	Induced pluripotent stem cell	Male
CVCL_C9E1	INSRMi013-A	Induced pluripotent stem cell	Male
CVCL_C9E2	INSRMi013-B	Induced pluripotent stem cell	Male
CVCL_C9E3	INSRMi013-C	Induced pluripotent stem cell	Male
CVCL_D0LM	SHETi004-A	Induced pluripotent stem cell	Female
CVCL_D6P3	INSRMi019-A	Induced pluripotent stem cell	Male
CVCL_D6P4	INSRMi020-A	Induced pluripotent stem cell	Male
CVCL_D6P5	INSRMi021-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00292383	PHASE4	UNKNOWN	Ventricular Pacing Site Selection (V-PASS)
NCT00559143	PHASE4	WITHDRAWN	Biventricular Alternative Pacing
NCT01019213	PHASE4	COMPLETED	Acute and Chronic Effect of His-pacing in Consecutive Patients With AV-block
NCT01717469	PHASE4	UNKNOWN	Safety and the Effects of Isolated Left Ventricular Pacing in Patients With Bradyarrhythmias
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
NCT00925691	PHASE3	COMPLETED	Comparison of SEPTal and Apical Pacing Sites in PerManent Right Ventricular Pacing
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
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