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Aliases for DES Gene

Aliases for DES Gene

  • Desmin 2 3
  • Intermediate Filament Protein 2 3
  • LGMD2R 3 6
  • Mutant Desmin P.K241E 3
  • CMD1I 6
  • SCPNK 6
  • ARVD7 6
  • ARVC7 6
  • CSM1 3
  • CSM2 3
  • MFM1 6

External Ids for DES Gene

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 ovarian benign neoplasm. Among its related pathways are ERK Signaling and Cytoskeletal Signaling. GO annotations related to this gene include identical protein binding and cytoskeletal protein binding. An important paralog of this gene is LMNB2.

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.

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

Genomic Location for DES Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DES Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DES Gene

Regulatory Elements 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.

neXtProt entry for DES Gene

Proteomics data for DES Gene at MOPED

Post-translational modifications for DES Gene

  • ADP-ribosylation prevents ability to form intermediate filaments.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys109 and Lys407

Other Protein References for DES Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DES Gene

Domains for DES Gene

Gene Families for DES Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

Protein Domains for DES Gene

UniProtKB/Swiss-Prot:

DESM_HUMAN
Family:
  • Belongs to the intermediate filament family.:
    • P17661
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.

Gene Ontology (GO) - Molecular Function for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
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

Animal Models for DES Gene

MGI Knock Outs for DES:

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

Localization for DES Gene

Subcellular locations from UniProtKB/Swiss-Prot for DES Gene

Cytoplasm. Cell membrane, sarcolemma.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DES Gene COMPARTMENTS Subcellular localization image for DES gene
Compartment Confidence
cytoskeleton 4
cytosol 4
mitochondrion 3
extracellular 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for DES Gene

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

Pathways for DES Gene

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

Pathways by source for DES Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for DES Gene
1 Qiagen pathway for DES Gene
1 Cell Signaling Technology pathway for DES Gene

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 --
genes like me logo Genes that share ontologies with DES: view

Compounds for DES Gene

(83) Novoseek inferred chemical compound relationships for DES Gene

Compound -log(P) Hits PubMed IDs
paraffin 59.4 29
progesterone 57.4 86
hematoxylin 55.4 11
estrogen 52.8 92
ethylene glycol bis(succinimidyl succinate) 46.4 1
genes like me logo Genes that share compounds with DES: view

Transcripts for DES Gene

mRNA/cDNA for DES Gene

Unigene Clusters for DES Gene

Desmin:
Representative Sequences:

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 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 (10.1), Heart - Left Ventricle (9.7), Esophagus - Muscularis (5.3), Colon - Sigmoid (5.0), Heart - Atrial Appendage (4.3), and Esophagus - Gastroesophageal Junction (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DES Gene

SOURCE GeneReport for Unigene cluster for DES Gene Hs.594952

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

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 36
  • 99.65 (n)
  • 100 (a)
DES 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DES 36
  • 92.77 (n)
  • 98.51 (a)
DES 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DES 36
  • 93.03 (n)
  • 97.87 (a)
DES 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Des 36
  • 91.19 (n)
  • 97.65 (a)
Des 16
Des 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DES 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DES 37
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Des 36
  • 90.62 (n)
  • 98.08 (a)
chicken
(Gallus gallus)
Aves DES 36
  • 81.54 (n)
  • 86.65 (a)
DES 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DES 37
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia des-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia des.1 36
  • 74.47 (n)
  • 82.71 (a)
MGC75911 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8472 36
zebrafish
(Danio rerio)
Actinopterygii desm 36
desma 37
  • 70 (a)
OneToMany
desmb 37
  • 73 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14901 36
Species with no ortholog for DES:
  • 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

Paralogs for DES Gene

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

Variants for DES Gene

Sequence variations from dbSNP and Humsavar for DES Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs12920 Benign 219,420,944(+) GCCCT(C/G)AAGGG synonymous-codon, reference
rs762561 -- 219,419,122(+) TGTCA(C/G)CACCT intron-variant
rs907677 -- 219,419,104(+) TGGGG(G/T)CTGGG intron-variant
rs1039896 -- 219,417,599(+) GGGGC(A/G)GGGGA upstream-variant-2KB
rs1058253 -- 219,418,522(+) GGCGG(C/G)GCCCC synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
nsv483018 CNV Gain 15286789
nsv834544 CNV Loss 17160897
nsv470518 CNV Loss 18288195
nsv520958 CNV Loss 19592680
dgv4437n71 CNV Loss 21882294
dgv4438n71 CNV Loss 21882294

Relevant External Links for DES Gene

HapMap Linkage Disequilibrium report
DES
Human Gene Mutation Database (HGMD)
DES
Locus Specific Mutation Databases (LSDB)
DES

Disorders for DES Gene

(4) OMIM Diseases for DES Gene (125660)

UniProtKB/Swiss-Prot

DESM_HUMAN
  • Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]: A neuromuscular disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and by myofibrillar destruction with intracytoplasmic 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}.
  • 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}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:17439987, ECO:0000269 PubMed:25394388}. 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.

(5) University of Copenhagen DISEASES for DES Gene

(95) Novoseek inferred disease relationships for DES Gene

Disease -log(P) Hits PubMed IDs
leiomyosarcoma 88.5 50
desmin-related myopathy 87.2 22
myofibroblastoma 87.1 11
stromal tumors 86.9 11
rhabdomyosarcoma 86.3 56

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

GeneTests
DES
GeneReviews
DES
Genetic Association Database (GAD)
DES
Human Genome Epidemiology (HuGE) Navigator
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 23
  2. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. (PMID: 9697706) Goldfarb L.G. … Dalakas M.C. (Nat. Genet. 1998) 3 4 23
  3. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. (PMID: 10545598) Sjoeberg G. … Sejersen T. (Hum. Mol. Genet. 1999) 3 4 23
  4. Structural and functional analysis of a new desmin variant causing desmin-related myopathy. (PMID: 11668632) Goudeau B. … Vicart P. (Hum. Mutat. 2001) 3 4 23
  5. A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. (PMID: 11061256) Sugawara M. … Toyoshima I. (Neurology 2000) 3 4 23

Products for DES Gene

Sources for DES Gene

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