Details for: DES

Gene ID: 1674

Symbol: DES

Ensembl ID: ENSG00000175084

Description: desmin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 125.0762
    Cell Significance Index: -19.4600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 34.2390
    Cell Significance Index: -16.1700
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 20.3876
    Cell Significance Index: 107.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.8075
    Cell Significance Index: -19.4900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.1454
    Cell Significance Index: -14.4600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 13.0578
    Cell Significance Index: 210.6900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 11.1700
    Cell Significance Index: 272.5400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 6.7863
    Cell Significance Index: 100.1900
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 6.6439
    Cell Significance Index: 19.0400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 4.7596
    Cell Significance Index: 365.2500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 4.3070
    Cell Significance Index: 61.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 3.8479
    Cell Significance Index: 235.9200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.5856
    Cell Significance Index: 45.9200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 3.5664
    Cell Significance Index: 89.1500
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.2817
    Cell Significance Index: 34.2600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 2.9067
    Cell Significance Index: 31.6000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.3605
    Cell Significance Index: 37.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.3405
    Cell Significance Index: 67.4400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 2.1608
    Cell Significance Index: 18.1500
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.5578
    Cell Significance Index: 7.2000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.9733
    Cell Significance Index: 101.3400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8735
    Cell Significance Index: 166.2400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7065
    Cell Significance Index: 69.8900
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.6960
    Cell Significance Index: 8.0600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6447
    Cell Significance Index: 582.1300
  • Cell Name: secondary lymphoid organ macrophage (CL0000867)
    Fold Change: 0.5313
    Cell Significance Index: 3.9000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.5211
    Cell Significance Index: 7.5000
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.2885
    Cell Significance Index: 1.3800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2630
    Cell Significance Index: 6.7600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1997
    Cell Significance Index: 32.4800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1631
    Cell Significance Index: 74.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1531
    Cell Significance Index: 21.0300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1313
    Cell Significance Index: 14.2800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0521
    Cell Significance Index: 98.0900
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0194
    Cell Significance Index: 0.3000
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.0173
    Cell Significance Index: 0.0800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0085
    Cell Significance Index: 0.3000
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.0085
    Cell Significance Index: 0.1100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0036
    Cell Significance Index: 0.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0003
    Cell Significance Index: -0.0500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0055
    Cell Significance Index: -0.3800
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0134
    Cell Significance Index: -0.2000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0171
    Cell Significance Index: -10.8500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0228
    Cell Significance Index: -10.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0243
    Cell Significance Index: -18.3900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0249
    Cell Significance Index: -18.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0287
    Cell Significance Index: -1.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0294
    Cell Significance Index: -18.3800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0313
    Cell Significance Index: -1.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0332
    Cell Significance Index: -18.7100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0363
    Cell Significance Index: -19.8300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0390
    Cell Significance Index: -1.0900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0516
    Cell Significance Index: -18.5000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0623
    Cell Significance Index: -17.9200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0655
    Cell Significance Index: -8.0500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0715
    Cell Significance Index: -10.4000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0737
    Cell Significance Index: -3.8300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0760
    Cell Significance Index: -1.5900
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0817
    Cell Significance Index: -1.0700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0850
    Cell Significance Index: -1.2200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0890
    Cell Significance Index: -18.7500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0927
    Cell Significance Index: -18.4000
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.0930
    Cell Significance Index: -0.8900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0977
    Cell Significance Index: -19.6000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1053
    Cell Significance Index: -1.3500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1088
    Cell Significance Index: -18.5800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1307
    Cell Significance Index: -16.8900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1371
    Cell Significance Index: -5.6200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1474
    Cell Significance Index: -7.6800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1630
    Cell Significance Index: -18.6700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1804
    Cell Significance Index: -11.6400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1831
    Cell Significance Index: -2.0800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1841
    Cell Significance Index: -18.8100
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.1861
    Cell Significance Index: -1.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2043
    Cell Significance Index: -4.3500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2165
    Cell Significance Index: -4.6900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2294
    Cell Significance Index: -17.1000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2369
    Cell Significance Index: -6.2300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2465
    Cell Significance Index: -1.6700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2501
    Cell Significance Index: -6.6900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2860
    Cell Significance Index: -19.2300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3050
    Cell Significance Index: -10.6000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3130
    Cell Significance Index: -19.2400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.3168
    Cell Significance Index: -19.0200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3644
    Cell Significance Index: -16.9900
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.3730
    Cell Significance Index: -2.3400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3926
    Cell Significance Index: -22.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4030
    Cell Significance Index: -18.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4084
    Cell Significance Index: -21.4400
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.4140
    Cell Significance Index: -4.1700
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.4165
    Cell Significance Index: -5.0700
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.4199
    Cell Significance Index: -4.0200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4486
    Cell Significance Index: -12.8600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4619
    Cell Significance Index: -20.4300
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.4709
    Cell Significance Index: -2.0500
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.4771
    Cell Significance Index: -4.6700
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.5202
    Cell Significance Index: -7.0200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5219
    Cell Significance Index: -19.1600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5337
    Cell Significance Index: -15.7200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.5361
    Cell Significance Index: -13.3700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Desmin is a type III intermediate filament protein that is expressed in a wide range of muscle cells, including skeletal muscle, cardiac muscle, smooth muscle, and others. It is composed of four identical subunits, each consisting of approximately 284 amino acids. Desmin is characterized by its ability to form a network of filaments that provides mechanical support to muscle cells, allowing them to maintain their shape and function. Additionally, desmin is involved in various cellular processes, including cell-cell adhesion, muscle contraction, and the regulation of heart contraction. **Pathways and Functions:** Desmin plays a crucial role in maintaining the structural integrity and function of muscle cells through several mechanisms: 1. **Cytoskeletal organization:** Desmin helps to organize the cytoskeleton, providing a framework for muscle cell contraction and relaxation. 2. **Cell-cell adhesion:** Desmin interacts with other proteins, such as plakoglobin and plakophilin, to form tight junctions and maintain cell-cell adhesion. 3. **Muscle contraction:** Desmin is involved in the regulation of muscle contraction, allowing muscle cells to shorten and lengthen in response to neural stimulation. 4. **Heart contraction regulation:** Desmin helps to regulate heart contraction, ensuring that the heart muscle contracts and relaxes in a coordinated manner. **Clinical Significance:** Dysregulation of desmin expression or function has been implicated in various muscle-related disorders, including: 1. **Muscular dystrophy:** Mutations in the DES gene have been associated with certain forms of muscular dystrophy, including desmin-related myopathy. 2. **Cardiac arrhythmias:** Abnormal desmin expression has been linked to cardiac arrhythmias, such as ventricular tachycardia. 3. **Muscle weakness:** Desmin dysfunction has been implicated in muscle weakness and fatigue, particularly in individuals with muscular dystrophy. In immunology, desmin has been shown to interact with various immune cells, including T cells and macrophages, and plays a role in regulating immune responses. For example, desmin has been shown to inhibit T cell activation and proliferation, suggesting that it may have immunosuppressive properties. **Conclusion:** In conclusion, desmin is a crucial protein that plays a vital role in maintaining muscle integrity and function. Its dysregulation has been implicated in various muscle-related disorders, and it has been shown to interact with immune cells, suggesting potential immunosuppressive properties. Further research is needed to fully elucidate the mechanisms by which desmin regulates muscle function and immune responses, and to explore its therapeutic potential in treating muscle-related disorders.

Genular Protein ID: 3789430882

Symbol: DESM_HUMAN

Name: Desmin

UniProtKB Accession Codes:

P17661 Q15787 Q549R7 Q549R8 Q549R9 Q8IZR1 Q8IZR6 Q8NES2 Q8NEU6 Q8TAC4 Q8TCX2 Q8TD99 Q9UHN5 Q9UJ80

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 15 Ensembl 1 ExpressionAtlas 1 GO 23 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2673923

Title: Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development.

PubMed ID: 2673923

DOI: 10.1016/0378-1119(89)90227-8

PubMed ID: 2007603

Title: High level desmin expression depends on a muscle-specific enhancer.

PubMed ID: 2007603

DOI: 10.1016/s0021-9258(18)38154-7

PubMed ID: 8792816

Title: Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

PubMed ID: 8792816

DOI: 10.1007/s004390050233

PubMed ID: 9697706

Title: Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

PubMed ID: 9697706

DOI: 10.1038/1300

PubMed ID: 10430757

Title: Desmin mutation responsible for idiopathic dilated cardiomyopathy.

PubMed ID: 10430757

DOI: 10.1161/01.cir.100.5.461

PubMed ID: 11668632

Title: Structural and functional analysis of a new desmin variant causing desmin-related myopathy.

PubMed ID: 11668632

DOI: 10.1002/humu.1210

PubMed ID: 14648196

Title: Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

PubMed ID: 14648196

DOI: 10.1007/s00439-003-1057-7

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10545598

Title: A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

PubMed ID: 10545598

DOI: 10.1093/hmg/8.12.2191

PubMed ID: 9875213

Title: Rho-associated kinase phosphorylates desmin, the myogenic intermediate filament protein, at unique amino-terminal sites.

PubMed ID: 9875213

DOI: 10.1006/bbrc.1998.9732

PubMed ID: 10852826

Title: Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.

PubMed ID: 10852826

DOI: 10.1242/jcs.113.13.2471

PubMed ID: 12686604

Title: Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase.

PubMed ID: 12686604

DOI: 10.1091/mbc.e02-09-0612

PubMed ID: 16923132

Title: Interactions between epiplakin and intermediate filaments.

PubMed ID: 16923132

DOI: 10.1111/j.1346-8138.2006.00127.x

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21135508

Title: Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

PubMed ID: 21135508

DOI: 10.1172/jci44021

PubMed ID: 14724127

Title: Desmin myopathy.

PubMed ID: 14724127

DOI: 10.1093/brain/awh033

PubMed ID: 15495235

Title: Desminopathies in muscle disease.

PubMed ID: 15495235

DOI: 10.1002/path.1639

PubMed ID: 23687351

Title: A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

PubMed ID: 23687351

DOI: 10.1136/jmedgenet-2012-101487

PubMed ID: 24413773

Title: Desmin modifications associate with amyloid-like oligomers deposition in heart failure.

PubMed ID: 24413773

DOI: 10.1093/cvr/cvu003

PubMed ID: 24940650

Title: Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure.

PubMed ID: 24940650

DOI: 10.1038/jid.2014.255

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25358400

Title: Desmin in muscle and associated diseases: beyond the structural function.

PubMed ID: 25358400

DOI: 10.1007/s00441-014-2016-4

PubMed ID: 27565725

Title: Desmin phosphorylation by Cdk1 is required for efficient separation of desmin intermediate filaments in mitosis and detected in murine embryonic/newborn muscle and human rhabdomyosarcoma tissues.

PubMed ID: 27565725

DOI: 10.1016/j.bbrc.2016.08.122

PubMed ID: 9736733

Title: A dysfunctional desmin mutation in a patient with severe generalized myopathy.

PubMed ID: 9736733

DOI: 10.1073/pnas.95.19.11312

PubMed ID: 10905661

Title: Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.

PubMed ID: 10905661

DOI: 10.1034/j.1399-0004.2000.570604.x

PubMed ID: 11061256

Title: A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.

PubMed ID: 11061256

DOI: 10.1212/wnl.55.7.986

PubMed ID: 10717012

Title: Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

PubMed ID: 10717012

DOI: 10.1056/nejm200003163421104

PubMed ID: 12620971

Title: On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

PubMed ID: 12620971

DOI: 10.1093/hmg/ddg060

PubMed ID: 12766977

Title: Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin C-terminal alpha-helical segment.

PubMed ID: 12766977

DOI: 10.1002/mus.10370

PubMed ID: 14711882

Title: Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

PubMed ID: 14711882

DOI: 10.1093/brain/awh052

PubMed ID: 15800015

Title: Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.

PubMed ID: 15800015

DOI: 10.1093/hmg/ddi136

PubMed ID: 16009553

Title: A novel desmin R355P mutation causes cardiac and skeletal myopathy.

PubMed ID: 16009553

DOI: 10.1016/j.nmd.2005.05.006

PubMed ID: 16376610

Title: Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

PubMed ID: 16376610

DOI: 10.1016/j.ejheart.2005.11.003

PubMed ID: 16865695

Title: Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

PubMed ID: 16865695

DOI: 10.1002/humu.20351

PubMed ID: 17439987

Title: Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

PubMed ID: 17439987

DOI: 10.1093/brain/awm039

PubMed ID: 17221859

Title: Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

PubMed ID: 17221859

DOI: 10.1002/humu.20459

PubMed ID: 18061454

Title: Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

PubMed ID: 18061454

DOI: 10.1016/j.nmd.2007.09.011

PubMed ID: 19879535

Title: Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

PubMed ID: 19879535

DOI: 10.1016/j.hrthm.2009.07.041

PubMed ID: 20829228

Title: De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

PubMed ID: 20829228

DOI: 10.1093/hmg/ddq387

PubMed ID: 21842594

Title: Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.

PubMed ID: 21842594

PubMed ID: 22106715

Title: Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.

PubMed ID: 22106715

PubMed ID: 22395865

Title: Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

PubMed ID: 22395865

DOI: 10.1038/ejhg.2012.39

PubMed ID: 23168288

Title: Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.

PubMed ID: 23168288

DOI: 10.1016/j.amjcard.2012.10.017

PubMed ID: 24200904

Title: The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

PubMed ID: 24200904

DOI: 10.1161/circgenetics.113.000103

PubMed ID: 23615443

Title: Nebulin binding impedes mutant desmin filament assembly.

PubMed ID: 23615443

DOI: 10.1091/mbc.e12-11-0840

PubMed ID: 25394388

Title: The toxic effect of R350P mutant desmin in striated muscle of man and mouse.

PubMed ID: 25394388

DOI: 10.1007/s00401-014-1363-2

PubMed ID: 26724190

Title: Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.

PubMed ID: 26724190

DOI: 10.1016/j.yjmcc.2015.12.015

PubMed ID: 27733623

Title: Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.

PubMed ID: 27733623

DOI: 10.1091/mbc.e16-04-0237

PubMed ID: 28470624

Title: alphaB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.

PubMed ID: 28470624

DOI: 10.1007/s12192-017-0788-7

PubMed ID: 30262925

Title: Functional analysis of DES-p.L398P and RBM20-p.R636C.

PubMed ID: 30262925

DOI: 10.1038/s41436-018-0291-2

Sequence Information:

  • Length: 470
  • Mass: 53536
  • Checksum: 1B5D9EA93C3BB319
  • Sequence:
    • MSQAYSSSQR VSSYRRTFGG APGFPLGSPL SSPVFPRAGF GSKGSSSSVT SRVYQVSRTS 
GGAGGLGSLR ASRLGTTRTP SSYGAGELLD FSLADAVNQE FLTTRTNEKV ELQELNDRFA 
NYIEKVRFLE QQNAALAAEV NRLKGREPTR VAELYEEELR ELRRQVEVLT NQRARVDVER 
DNLLDDLQRL KAKLQEEIQL KEEAENNLAA FRADVDAATL ARIDLERRIE SLNEEIAFLK 
KVHEEEIREL QAQLQEQQVQ VEMDMSKPDL TAALRDIRAQ YETIAAKNIS EAEEWYKSKV 
SDLTQAANKN NDALRQAKQE MMEYRHQIQS YTCEIDALKG TNDSLMRQMR ELEDRFASEA 
SGYQDNIARL EEEIRHLKDE MARHLREYQD LLNVKMALDV EIATYRKLLE GEESRINLPI 
QTYSALNFRE TSPEQRGSEV HTKKTVMIKT IETRDGEVVS EATQQQHEVL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.