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    DES desmin [ Canis lupus familiaris (dog) ]

    Gene ID: 497091, updated on 17-Aug-2024

    Summary

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    Official Symbol
    DESprovided by VGNC
    Official Full Name
    desminprovided by VGNC
    Primary source
    VGNC:VGNC:39905
    See related
    Ensembl:ENSCAFG00845030185
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Canis lupus familiaris (sub-species: familiaris)
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
    Orthologs
    human mouse all
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    Genomic context

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    See DES in Genome Data Viewer
    Location:
    chromosome: 37
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    106 current ROS_Cfam_1.0 (GCF_014441545.1) 37 NC_051841.1 (25948759..25955145)
    106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 37 NC_006619.4 (26759350..26765730)
    106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 37 NC_049258.1 (25809193..25815585)
    106 current UMICH_Zoey_3.1 (GCF_005444595.1) 37 NC_049297.1 (25852619..25858998)
    106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 37 NC_049778.1 (25788621..25795000)

    Chromosome 37 - NC_051841.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC119867905 Neighboring gene aspartyl aminopeptidase Neighboring gene uncharacterized LOC111094337 Neighboring gene striated muscle enriched protein kinase Neighboring gene SPEG neighbor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Desmin modifications associate with amyloid-like oligomers deposition in heart failure. Agnetti G, et al. Cardiovasc Res, 2014 Apr 1. PMID 24413773, Free PMC Article
    2. Characterization of the canine desmin (DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann. Stabej P, et al. Gene, 2004 Oct 13. PMID 15475165
    3. Presence of Cx37 and lack of desmin in smooth muscle cells are early markers for arteriogenesis. Cai WJ, et al. Mol Cell Biochem, 2004 Jul. PMID 15532705
    4. Linkage mapping of the primary disease locus for collie eye anomaly. Lowe JK, et al. Genomics, 2003 Jul. PMID 12809679
    5. Genome sequence, comparative analysis and haplotype structure of the domestic dog. Lindblad-Toh K, et al. Nature, 2005 Dec 8. PMID 16341006

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. induction of Cx37 and reduction of desmin precede the phenotypic changes of SMCs, which are characterized by down-regulation of alpha-SM actin, calponin and vinculin, and the formation of a neointima
      Title: Presence of Cx37 and lack of desmin in smooth muscle cells are early markers for arteriogenesis.
    2. Mutations in the desmin (DES) gene do not play a role in Dobermann canine-dilated cardiomyopathy.
      Title: Characterization of the canine desmin (DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Process Evidence Code Pubs
    involved_in skeletal muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    desmin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001012394.1 → NP_001012394.1  desmin

      See identical proteins and their annotated locations for NP_001012394.1

      Status: PROVISIONAL

      Source sequence(s)
      BK005142
      UniProtKB/Swiss-Prot
      Q5XFN2
      UniProtKB/TrEMBL
      A0A8I3Q5S1
      Related
      ENSCAFP00845042082.1, ENSCAFT00845053556.1
      Conserved Domains (2) summary
      pfam00038
      Location:106 → 414
      Filament; Intermediate filament protein
      pfam04732
      Location:9 → 105
      Filament_head; Intermediate filament head (DNA binding) region

    RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference ROS_Cfam_1.0

    Genomic

    1. NC_051841.1 Reference ROS_Cfam_1.0

      Range
      25948759..25955145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UMICH_Zoey_3.1

    Genomic

    1. NC_049297.1 Alternate UMICH_Zoey_3.1

      Range
      25852619..25858998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UNSW_CanFamBas_1.0

    Genomic

    1. NC_049778.1 Alternate UNSW_CanFamBas_1.0

      Range
      25788621..25795000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UU_Cfam_GSD_1.0

    Genomic

    1. NC_049258.1 Alternate UU_Cfam_GSD_1.0

      Range
      25809193..25815585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Dog10K_Boxer_Tasha Primary Assembly

    Genomic

    1. NC_006619.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

      Range
      26759350..26765730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5XFN2.3 GenPept UniProtKB/Swiss-Prot:Q5XFN2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.