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Aliases for DES Gene

Aliases for DES Gene

  • Desmin 2 3 3 5
  • Intermediate Filament Protein 2 3
  • Mutant Desmin P.K241E 3
  • LGMD2R 3
  • CSM1 3
  • CSM2 3

External Ids for DES Gene

Previous GeneCards Identifiers for DES Gene

  • GC02P218305
  • GC02P219004
  • GC02P220247
  • GC02P220485
  • GC02P220109
  • GC02P219991
  • GC02P220283
  • GC02P212136

Summaries for DES Gene

Entrez Gene Summary for DES Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for DES Gene

DES (Desmin) is a Protein Coding gene. Diseases associated with DES include Myopathy, Myofibrillar, 1 and Muscular Dystrophy, Limb-Girdle, Type 2R. Among its related pathways are Striated Muscle Contraction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is VIM.

UniProtKB/Swiss-Prot for DES Gene

  • Desmin are class-III intermediate filaments found in muscle cells. 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 (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction.

Gene Wiki entry for DES Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DES Gene

Genomics for DES Gene

Regulatory Elements for DES Gene

Enhancers for DES Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F219450 1.3 FANTOM5 Ensembl ENCODE 11.8 +34.3 34308 4.5 JUN KLF17 MAX SIN3A ZFHX2 PATZ1 PRDM10 NFE2 FOS ZNF600 GMPPA ENSG00000227432 ASIC4 DES PTPRN SPEG LOC100996693
GH02F219457 1.3 Ensembl ENCODE 11.8 +41.5 41470 4.5 CTCF TFAP4 ESRRA ETV1 ARID4B MAX SIN3A ZIC2 ZNF2 RAD21 SPEG GMPPA ASIC4 ENSG00000227432 DES OBSL1 PTPRN LOC100996693
GH02F219438 1.2 Ensembl ENCODE 11.7 +24.9 24947 9.5 PKNOX1 ZFP64 RAD21 ZNF335 GLIS2 EGR2 ZNF263 REST ZNF518A ZNF623 STK36 CNOT9 ASIC4 GMPPA DES ENSG00000227432 RNF25 CDK5R2 BCS1L TMEM198
GH02F219449 0.2 ENCODE 11.6 +30.7 30717 0.1 CTCF SMARCA4 POLR2A GMPPA DES ASIC4 ENSG00000227432 SPEG LOC100996693
GH02F219386 0.2 ENCODE 11.4 -30.4 -30418 3.4 ATF1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF143 ZNF207 SP3 SP5 DNPEP DES GLB1L LOC105373884 LOC105373883
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DES on UCSC Golden Path with GeneCards custom track

Promoters for DES Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001832690 223 401 RING1 RNF2 MAX ZBTB33 MNT EZH2
ENSR00001832691 1023 401 ZMYM3
ENSR00000607812 1523 201 ARID1B ZNF664 KLF1 PKNOX1 NCOR1 TAL1 ZMYM3

Genomic Location for DES Gene

Chromosome:
2
Start:
219,418,377 bp from pter
End:
219,426,739 bp from pter
Size:
8,363 bases
Orientation:
Plus strand

Genomic View for DES Gene

Genes around DES on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DES Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DES Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DES Gene

Proteins for DES Gene

  • Protein details for DES Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17661-DESM_HUMAN
    Recommended name:
    Desmin
    Protein Accession:
    P17661
    Secondary Accessions:
    • Q15787
    • Q549R7
    • Q549R8
    • Q549R9
    • Q8IZR1
    • Q8IZR6
    • Q8NES2
    • Q8NEU6
    • Q8TAC4
    • Q8TCX2
    • Q8TD99
    • Q9UHN5
    • Q9UJ80

    Protein attributes for DES Gene

    Size:
    470 amino acids
    Molecular mass:
    53536 Da
    Quaternary structure:
    • Homopolymer. Interacts with DST (By similarity). Interacts with MTM1 (PubMed:21135508). Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132).

neXtProt entry for DES Gene

Post-translational modifications for DES Gene

  • ADP-ribosylation prevents ability to form intermediate filaments.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DES Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DES Gene

Domains & Families for DES Gene

Gene Families for DES Gene

Suggested Antigen Peptide Sequences for DES Gene

Graphical View of Domain Structure for InterPro Entry

P17661

UniProtKB/Swiss-Prot:

DESM_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with DES: view

Function for DES Gene

Molecular function for DES Gene

GENATLAS Biochemistry:
desmin,53kDa,found in smooth,cardiac and skeletal muscle,intermediate filament superfamily
UniProtKB/Swiss-Prot Function:
Desmin are class-III intermediate filaments found in muscle cells. 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 (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction.

Gene Ontology (GO) - Molecular Function for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 9736733
GO:0005515 protein binding IPI 11353857
GO:0008092 cytoskeletal protein binding IPI 11309420
GO:0042802 identical protein binding IPI 21135508
genes like me logo Genes that share ontologies with DES: view
genes like me logo Genes that share phenotypes with DES: view

Human Phenotype Ontology for DES Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DES Gene

MGI Knock Outs for DES:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DES

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DES Gene

Localization for DES Gene

Subcellular locations from UniProtKB/Swiss-Prot for DES Gene

Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm. Cell membrane, sarcolemma. Note=Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (PubMed:24200904, PubMed:26724190). {ECO:0000269 PubMed:24200904, ECO:0000269 PubMed:26724190}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DES Gene COMPARTMENTS Subcellular localization image for DES gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
plasma membrane 5
mitochondrion 3

Gene Ontology (GO) - Cellular Components for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with DES: view

Pathways & Interactions for DES Gene

genes like me logo Genes that share pathways with DES: view

Pathways by source for DES Gene

1 GeneGo (Thomson Reuters) pathway for DES Gene
1 Qiagen pathway for DES Gene

SIGNOR curated interactions for DES Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 9697706
GO:0007010 cytoskeleton organization TAS 9736733
GO:0008016 regulation of heart contraction TAS 9697706
GO:0030049 muscle filament sliding TAS --
GO:0045109 intermediate filament organization IMP 24200904
genes like me logo Genes that share ontologies with DES: view

Drugs & Compounds for DES Gene

(42) Drugs for DES Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(41) Additional Compounds for DES Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DES: view

Transcripts for DES Gene

Unigene Clusters for DES Gene

Desmin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DES

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DES Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: -
SP2: - -
SP3:
SP4: -

Relevant External Links for DES Gene

GeneLoc Exon Structure for
DES
ECgene alternative splicing isoforms for
DES

Expression for DES Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DES Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DES Gene

This gene is overexpressed in Muscle - Skeletal (x10.1), Heart - Left Ventricle (x9.7), Esophagus - Muscularis (x5.3), Colon - Sigmoid (x5.0), Heart - Atrial Appendage (x4.3), and Esophagus - Gastroesophageal Junction (x4.2).

Protein differential expression in normal tissues from HIPED for DES Gene

This gene is overexpressed in Colon muscle (22.6), Urinary Bladder (15.9), and Gallbladder (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DES Gene



Protein tissue co-expression partners for DES Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DES Gene:

DES

SOURCE GeneReport for Unigene cluster for DES Gene:

Hs.594952
genes like me logo Genes that share expression patterns with DES: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for DES Gene

Orthologs for DES Gene

This gene was present in the common ancestor of chordates.

Orthologs for DES Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DES 34 35
  • 99.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DES 35
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DES 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DES 34 35
  • 93.03 (n)
cow
(Bos Taurus)
Mammalia DES 34 35
  • 92.77 (n)
mouse
(Mus musculus)
Mammalia Des 34 16 35
  • 91.19 (n)
rat
(Rattus norvegicus)
Mammalia Des 34
  • 90.62 (n)
chicken
(Gallus gallus)
Aves DES 34 35
  • 81.54 (n)
lizard
(Anolis carolinensis)
Reptilia DES 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia des.1 34
  • 74.47 (n)
MGC75911 34
African clawed frog
(Xenopus laevis)
Amphibia des-prov 34
zebrafish
(Danio rerio)
Actinopterygii desmb 35
  • 73 (a)
OneToMany
desma 35
  • 70 (a)
OneToMany
desm 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8472 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14901 34
Species where no ortholog for DES was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DES Gene

ENSEMBL:
Gene Tree for DES (if available)
TreeFam:
Gene Tree for DES (if available)

Paralogs for DES Gene

Variants for DES Gene

Sequence variations from dbSNP and Humsavar for DES Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121913000 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419], Pathogenic 219,421,394(+) GTGAG(C/G)CCAGT reference, missense
rs121913001 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419], Pathogenic 219,421,494(+) GCTCA(A/G/T)CGTGA reference, missense
rs121913002 Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765], Myopathy, myofibrillar, 1 (MFM1) [MIM:601419], Pathogenic 219,425,727(+) ACCAT(C/G/T)GAGAC reference, synonymous-codon, missense
rs121913005 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419], Pathogenic 219,425,699(+) CCATA(C/T)CAAGA reference, missense
rs267607482 Myopathy, myofibrillar, 1 (MFM1) [MIM:601419], Pathogenic 219,421,340(+) TGCAG(A/G)ACGAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DES Gene

Variant ID Type Subtype PubMed ID
nsv470518 CNV loss 18288195
nsv520958 CNV loss 19592680
nsv834544 CNV loss 17160897

Variation tolerance for DES Gene

Residual Variation Intolerance Score: 72.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DES Gene

Human Gene Mutation Database (HGMD)
DES
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DES

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DES Gene

Disorders for DES Gene

MalaCards: The human disease database

(126) MalaCards diseases for DES Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, myofibrillar, 1
  • myofibrillar myopathy 1
muscular dystrophy, limb-girdle, type 2r
  • autosomal recessive limb-girdle muscular dystrophy type 2r
scapuloperoneal syndrome, neurogenic, kaeser type
  • kaeser syndrome
cardiomyopathy, dilated, 1i
  • dilated cardiomyopathy 1i
muscular dystrophy, limb-girdle, type 1e
  • autosomal dominant limb-girdle muscular dystrophy type 1e
- elite association - COSMIC cancer census association via MalaCards
Search DES in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DESM_HUMAN
  • 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. {ECO:0000269 PubMed:10430757, ECO:0000269 PubMed:24200904, ECO:0000269 PubMed:26724190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-girdle muscular dystrophy 2R (LGMD2R) [MIM:615325]: A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269 PubMed:23687351}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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 disc 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. {ECO:0000269 PubMed:10545598, ECO:0000269 PubMed:10717012, ECO:0000269 PubMed:10905661, ECO:0000269 PubMed:11061256, ECO:0000269 PubMed:11668632, ECO:0000269 PubMed:12620971, ECO:0000269 PubMed:12766977, ECO:0000269 PubMed:14648196, ECO:0000269 PubMed:14711882, ECO:0000269 PubMed:15800015, ECO:0000269 PubMed:16009553, ECO:0000269 PubMed:16865695, ECO:0000269 PubMed:17221859, ECO:0000269 PubMed:18061454, ECO:0000269 PubMed:19879535, ECO:0000269 PubMed:20829228, ECO:0000269 PubMed:22106715, ECO:0000269 PubMed:22395865, ECO:0000269 PubMed:25394388, ECO:0000269 PubMed:9697706, ECO:0000269 PubMed:9736733}. Note=The disease is caused by mutations 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 (PubMed:19879535). {ECO:0000269 PubMed:19879535}.
  • 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. {ECO:0000269 PubMed:17439987, ECO:0000269 PubMed:25394388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for DES Gene

desmin-related myopathy characterized by muscle weakness,associated with cardiac dilated cardiomyopathy,conduction blocks,arrhythmias restrictive heart failure,intestinal malabsorption and pseudoobstruction,desmin-reactive deposits in cardiac and skeletal muscle cells

Relevant External Links for DES

Genetic Association Database (GAD)
DES
Human Genome Epidemiology (HuGE) Navigator
DES
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DES
genes like me logo Genes that share disorders with DES: view

Publications for DES Gene

  1. A dysfunctional desmin mutation in a patient with severe generalized myopathy. (PMID: 9736733) Munoz-Marmol A.M. … Fuchs E. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 22 64
  2. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. (PMID: 19879535) van Tintelen J.P. … van den Berg M.P. (Heart Rhythm 2009) 3 4 22 64
  3. Prevalence of desmin mutations in dilated cardiomyopathy. (PMID: 17325244) Taylor M.R. … . (Circulation 2007) 3 22 46 64
  4. Desmin mutations in a St. Petersburg cohort of cardiomyopathies. (PMID: 17626518) Kostareva A. … Sejersen T. (Acta Myol 2006) 3 22 46 64
  5. [Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy]. (PMID: 16761416) Wang B. … Chen X.Y. (Sichuan Da Xue Xue Bao Yi Xue Ban 2006) 3 22 46 64

Products for DES Gene

Sources for DES Gene

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