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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DES Gene

protein-coding   GIFtS: 71
GCID: GC02P220283

Desmin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
desmin1 2
Intermediate Filament Protein1 2
CSM12
CSM22
LGMD2R2
CMD1I5

External Ids:    HGNC: 27701   Entrez Gene: 16742   Ensembl: ENSG000001750847   OMIM: 1256605   UniProtKB: P176613   

Export aliases for DES gene to outside databases

Previous GC identifers: GC02P218305 GC02P219004 GC02P220247 GC02P220485 GC02P220109 GC02P219991 GC02P212136


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 leiomyosarcoma, and leiomyoma, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM) and Striated Muscle Contraction. GO annotations related to this gene include cytoskeletal protein binding and structural constituent of cytoskeleton. An important paralog of this gene is LMNB1.

UniProtKB/Swiss-Prot: DESM_HUMAN, P17661
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 Wiki entry for DES (Desmin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DES gene promoter:
         TBP   p53   AP-1   FOXO1a   MyoD   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DES promoter sequence
   Search SABiosciences Chromatin IP Primers for DES

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DES


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

DES Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DES gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P220283:  view genomic region     (about GC identifiers)

Start:
220,283,099 bp from pter      End:
220,291,461 bp from pter
Size:
8,363 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DESM_HUMAN, P17661 (See protein sequence)
Recommended Name: Desmin  
Size: 470 amino acids; 53536 Da
Subunit: Homopolymer. Interacts with DST (By similarity). Interacts with MTM1
Subcellular location: Cytoplasm
Secondary accessions: Q15787 Q549R7 Q549R8 Q549R9 Q8IZR1 Q8IZR6 Q8NES2 Q8NEU6 Q8TAC4 Q8TCX2
Q8TD99 Q9UHN5 Q9UJ80

Explore the universe of human proteins at neXtProt for DES: NX_P17661

Explore proteomics data for DES at MOPED 

Post-translational modifications:

  • UniProtKB: ADP-ribosylation prevents ability to form intermediate filaments (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17661

  • DES Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DES Protein Expression
    REFSEQ proteins: NP_001918.3  
    ENSEMBL proteins: 
     ENSP00000363071  
    Reactome Protein details: P17661
    Human Recombinant Protein Products for DES: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals DES Protein
    Novus Biologicals DES Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for DES
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ----
    GO:0005882intermediate filament IEA--
    GO:0005916fascia adherens IEA--

    DES for ontologies           About GeneDecksing



    DES Antibody Products: 
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    R&D Systems Antibodies for DES (Desmin)
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    Abcam antibodies for DES
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    LSBio Antibodies in human, mouse, rat for DES 

    Assay Products for DES: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DES
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFF3: Intermediate filaments type III

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR006821 Intermed_filament_DNA-bd
     IPR016044 F

    Graphical View of Domain Structure for InterPro Entry P17661

    ProtoNet protein and cluster: P17661

    1 Blocks protein domain: IPB001664 Intermediate filament protein

    UniProtKB/Swiss-Prot: DESM_HUMAN, P17661
    Similarity: Belongs to the intermediate filament family


    DES for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DESM_HUMAN, P17661
    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

         Genatlas biochemistry entry for DES:
    desmin,53kDa,found in smooth,cardiac and skeletal muscle,intermediate filament superfamily

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS9736733
    GO:0005515protein binding IPI11353857
    GO:0008092cytoskeletal protein binding IPI11309420
    GO:0042802identical protein binding IPI--
         
    DES for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DES:
     Decreased Wnt reporter activit  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Des):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    DES for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Destm1Cap for DES

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DES 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DES

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DES 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DES 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DES
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate DES:
    hsa-miR-4324 hsa-miR-370 hsa-miR-642a hsa-miR-532-3p hsa-miR-3065-3p hsa-miR-766 hsa-miR-1976 hsa-miR-338-3p
    SwitchGear 3'UTR luciferase reporter plasmidDES 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DES

    Clone
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    GenScript: all cDNA clones in your preferred vector: DES (NM_001927)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DES
    Sirion Biotech Customized lentivirus for stable overexpression of DES 
                         Customized lentivirus expression plasmids for stable overexpression of DES 

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    Search LifeMap BioReagents cell lines for DES
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DES


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DES About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.53
    2Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    3Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    4Rho Family GTPases
    Rho Family GTPases0.61
    5Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for DES
        Cytoskeleton remodeling Neurofilaments

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for DES
        Rho Family GTPases

    1 Cell Signaling Technology (CST) Pathway for DES
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for DES
        Cytoskeleton remodeling Neurofilaments

    3 BioSystems Pathways for DES
        Striated Muscle Contraction
    Arrhythmogenic right ventricular cardiomyopathy
    Aurora B signaling


    2        Reactome Pathways for DES
        Muscle contraction
    Striated Muscle Contraction


    3         Kegg Pathways  (Kegg details for DES):
        Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    DES for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DES

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/122 Interacting proteins for DES (P176611, 2, 3 ENSP000003630714) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503570 MINT-6503390 I2D: score=1 STRING: ENSP00000363390
    MLH1P406921, 3EBI-1055572,EBI-744248 I2D: score=1 
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6503910 MINT-6503730 I2D: score=1 STRING: ENSP00000262435
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 I2D: score=1 STRING: ENSP00000238081
    CAPN1P073843, ENSP000002792474I2D: score=3 STRING: ENSP00000279247
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS9697706
    GO:0007010cytoskeleton organization TAS9736733
    GO:0008016regulation of heart contraction TAS9697706
    GO:0030049muscle filament sliding TAS--

    DES for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DES for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DES (DESM)

    10/83 Novoseek inferred chemical compound relationships for DES gene (see all 83)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraffin 59.4 29 9062704 (1), 8050903 (1), 11688464 (1), 17121196 (1) (see all 29)
    progesterone 57.4 88 19227277 (2), 19781188 (2), 9062704 (1), 9308729 (1) (see all 84)
    hematoxylin 55.4 11 7512798 (1), 12928636 (1), 16949932 (1), 19252433 (1) (see all 11)
    estrogen 52.8 95 12090595 (2), 12004356 (2), 19781188 (2), 8980365 (1) (see all 89)
    ethylene glycol bis(succinimidyl succinate) 46.4 1 1606966 (1)
    reticulin 46.1 3 11858401 (1), 15363323 (1), 8629902 (1)
    s 100 43.4 2 11253120 (1), 16859566 (1)
    dermatan sulfate 37.4 20 8533121 (2), 8873586 (2), 9626917 (2), 9100165 (2) (see all 14)
    orcein 37.1 2 16796160 (1), 15363323 (1)
    glycogen 36.2 4 8281497 (1), 2162615 (1), 18691923 (1), 19820381 (1)

    Search CenterWatch for drugs/clinical trials and news about DES / DESM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DES gene: 
    NM_001927.3  

    Unigene Cluster for DES:

    Desmin
    Hs.594952  [show with all ESTs]
    Unigene Representative Sequence: AK022087
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373960(uc002vll.3) ENST00000477226 ENST00000492726 ENST00000483395

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate DES:
    hsa-miR-4324 hsa-miR-370 hsa-miR-642a hsa-miR-532-3p hsa-miR-3065-3p hsa-miR-766 hsa-miR-1976 hsa-miR-338-3p
    SwitchGear 3'UTR luciferase reporter plasmidDES 3' UTR sequence
    Inhib. RNA
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    Sirion Biotech Customized lentivirus for stable overexpression of DES 
                         Customized lentivirus expression plasmids for stable overexpression of DES 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DES
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DES

    Additional mRNA sequence: 

    AF055081.1 AF055082.1 AF055083.1 AF137053.1 AF167579.1 AF486807.1 AF487828.1 AF521879.1 
    AF527578.1 AK022087.1 AK097038.1 AK098332.1 AK123787.1 AK300654.1 AY083345.1 AY125465.1 
    BC010072.2 BC032116.2 DQ104335.1 DQ104336.1 DQ104337.1 EF617312.1 JX114780.1 U59167.1 

    24/40 DOTS entries (see all 40):

    DT.102835624  DT.92443837  DT.100780678  DT.95368501  DT.100780681  DT.100044594  DT.95128451  DT.100043038 
    DT.100780680  DT.100780676  DT.95368662  DT.120985112  DT.120985160  DT.120985174  DT.40123795  DT.120985091 
    DT.120985110  DT.120985159  DT.92443830  DT.95345359  DT.100780683  DT.120985129  DT.120985119  DT.120985163 

    24/667 AceView cDNA sequences (see all 667):

    AL047179 F21523 F16982 BM720025 BG742481 BQ008094 BM728119 AI675808 
    BP374896 BQ951374 BU620589 F30456 BP373183 CA391414 AJ709488 F15520 
    AI564096 BM679733 AU076415 AJ573144 BM680675 BM993473 F30002 BP377937 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DES    About this scheme

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


    ECgene alternative splicing isoforms for DES

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DES expression in normal human tissues (normalized intensities)      DES embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCGGCCAC
    DES Expression
    About this image


    DES expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 62 entries
             Mononuclear Myocytes Mandibular Arch Muscles
             Skeletal myoblasts (MyoCellŽ)
             skeletal muscle ; myocytes   
     
     Somite (Muscoskeletal System)    fully expand to see all 32 entries
             Myoblasts Thoracic Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 13 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
             Autopod
     
     Liver (Hepatobiliary System)    fully expand to see all 5 entries
             Pericytes Sinusoids
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiomyocytes Myocardium
             Cardiomyocyte-like cells ( Spontaneous differentiation of cardiomyocytes from human...
             heart muscle ; myocytes   

    See DES Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DES

    SOURCE GeneReport for Unigene cluster: Hs.594952
        SABiosciences Expression via Pathway-Focused PCR Arrays including DES: 
              Embryonic Stem Cells in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DES

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for DES gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Des1 , 5 desmin1, 5 91.19(n)1
    97.65(a)1
      1 (38.85 cM)5
    133461  NM_010043.11  NP_034173.11 
     753603295 
    chicken
    (Gallus gallus)
    Aves DES6
    desmin
    86(a)
    1 ↔ 1
    7(21670394-21673766)
    lizard
    (Anolis carolinensis)
    Reptilia DES6
    Uncharacterized protein
    87(a)
    1 ↔ 1
    1(95397075-95413790)
    African clawed frog
    (Xenopus laevis)
    Amphibia des-prov2 desmin 77.2(n)    BC046651.1 
    zebrafish
    (Danio rerio)
    Actinopterygii desm2 desmin 79.48(n)   30148  NM_130963.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DES gene
    LMNB12  VIM2  INA2  LMNA2  PRPH2  NEFM2  LMNB22  NEFH2  
    GFAP2  
    18/71 SIMAP similar genes for DES using alignment to 6 protein entries:     DESM_HUMAN (see all proteins) (see all similar genes):
    tmp_locus_29    VIM    KRTHB6    PRPH    DKFZp761K0922    KRT79
    GFAP    LMNB2    NES    KRT4    SYNM    NEFM
    INA    KRT3    KRTHB1    IFFO2    KRT1    KRT1B

    DES for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/406 SNPs in DES are shown (see all 406)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0672074
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0672072 S F mis40--------
    VAR_0424634
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0424632 S I mis40--------
    VAR_0187724
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0187722 Q P mis40--------
    VAR_0424594
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0424592 T I mis40--------
    VAR_0672114
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0672112 E K mis40--------
    VAR_0672084
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0672082 S F mis40--------
    VAR_0079024
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0079022 N I mis40--------
    VAR_0690744
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0690742 P S mis40--------
    VAR_0672094
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0672092 L R mis40--------
    VAR_0424614
    Myopathy, myofibrillar, 1 (MFM1)4--see VAR_0424612 K T mis40--------

    HapMap Linkage Disequilibrium report for DES (220283099 - 220291461 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for DES:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834544CNV Loss17160897
    dgv4438n71CNV Loss21882294
    nsv520958CNV Loss19592680
    nsv470518CNV Loss18288195
    dgv4437n71CNV Loss21882294
    nsv483018CNV Gain15286789


    Human Gene Mutation Database (HGMD): DES

    Locus Specific Mutation Databases (LSDB): DES
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DES
    DNA2.0 Custom Variant and Variant Library Synthesis for DES

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 125660   
    OMIM disorders: 601419  604765  181400  
    UniProtKB/Swiss-Prot: DESM_HUMAN, P17661
  • 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.
    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)
  • 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. 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/235 diseases for DES (see all 235):    About MalaCards
    leiomyosarcoma    leiomyoma    myofibrillar myopathy    smooth muscle tumor
    endometrial stromal sarcoma    epithelioid leiomyosarcoma    spindle cell lipoma    hemangiopericytoma
    adenosarcoma    botryoid rhabdomyosarcoma    benign metastasizing leiomyoma    giant cell tumor
    cytoplasmic body myopathy    tenosynovial giant cell tumor    infantile myofibromatosis    orbit rhabdomyosarcoma
    neonatal hemochromatosis    spindle cell thymoma    spindle cell rhabdomyosarcoma    prostate leiomyoma

    5 diseases from the University of Copenhagen DISEASES database for DES:
    Alexander disease     Enamel caries     Epidermolysis bullosa simplex     Cancer
    Myopathy

    DES for disorders           About GeneDecksing

    10/95 Novoseek inferred disease relationships for DES gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leiomyosarcoma 88.5 53 8933907 (3), 14576480 (2), 2174404 (2), 11759055 (2) (see all 45)
    desmin-related myopathy 87.2 27 9697706 (3), 11668632 (2), 10417796 (2), 11001821 (2) (see all 17)
    myofibroblastoma 87.1 11 8980367 (2), 10235504 (1), 9805854 (1), 11889594 (1) (see all 10)
    stromal tumors 86.9 15 11914617 (3), 2159271 (1), 16550975 (1), 1783095 (1) (see all 9)
    rhabdomyosarcoma 86.3 61 16010486 (2), 1669003 (2), 2119961 (2), 10877277 (2) (see all 49)
    gastrointestinal stromal tumor 85.6 7 18359707 (2), 11598621 (1), 20495760 (1), 15232741 (1) (see all 6)
    leiomyoma 85.1 51 8933907 (3), 11914617 (2), 12193211 (2), 8980367 (1) (see all 41)
    smooth muscle tumor 84.7 15 11914617 (2), 12090595 (1), 19722741 (1), 1710946 (1) (see all 11)
    rhabdomyosarcoma embryonal 82.1 10 8042414 (2), 16010486 (1), 18656317 (1), 8685098 (1) (see all 9)
    tumors 80.8 767 18359707 (4), 1783095 (3), 1712542 (3), 15232741 (3) (see all 99)

    Genatlas disease: DES
    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

    GeneTests: DES
    GeneReviews: DES
    Genetic Association Database (GAD): DES
    Human Genome Epidemiology (HuGE) Navigator: DES (235 documents)

    Export disorders for DES gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DES gene, integrated from 9 sources (see all 1693):
    (articles sorted by number of sources associating them with DES)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A dysfunctional desmin mutation in a patient with severe generalized myopathy. (PubMed id 9736733)1, 2, 3, 9 Munoz-Marmol A.M.... Fuchs E. (1998)
    2. Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development. (PubMed id 2673923)1, 2, 3 Li Z.... Paulin D. (1989)
    3. Prevalence of desmin mutations in dilated cardiomyopathy. (PubMed id 17325244)1, 4, 9 Taylor M.R.... . (2007)
    4. 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)1, 2, 9 Kawajiri A....Inagaki M. (2003)
    5. A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. (PubMed id 11061256)1, 2, 9 Sugawara M.... Toyoshima I. (2000)
    6. Severe cardiac phenotype with right ventricular predo minance in a large cohort of patients with a single missense mutation in the DE S gene. (PubMed id 19879535)1, 2, 9 van Tintelen J.P....van den Berg M.P. (2009)
    7. Desmin mutations in a St. Petersburg cohort of cardiomyopathies. (PubMed id 17626518)1, 4, 9 Kostareva A....Sejersen T. (2006)
    8. Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. (PubMed id 14648196)1, 2, 9 Kaminska A.... Goldfarb L.G. (2004)
    9. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. (PubMed id 9697706)1, 2, 9 Goldfarb L.G....Dalakas M.C. (1998)
    10. Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. (PubMed id 18061454)1, 2, 9 Pica E.C....Yee W.C. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1674 HGNC: 2770 AceView: DES Ensembl:ENSG00000175084 euGenes: HUgn1674
    ECgene: DES Kegg: 1674 H-InvDB: DES

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DES Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DES
    Wikipedia http://en.wikipedia.org/wiki/Desmin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DES gene:
    Search GeneIP for patents involving DES

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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