ZFIN ID: ZDB-GENE-980526-221
Gene Name: desmin a
Gene Symbol: desma    Nomenclature History

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Previous Names: des, desm, cb290 (1), wu:fb59a12, zgc:109859

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 9 Mapping Details/Browsers
Description: Involved in several processes, including regulation of cardiac muscle contraction by calcium ion signaling; sarcomere organization; and skeletal muscle tissue development. Localizes to Z disc. Is expressed in several structures, including cardiovascular system; hindbrain neural plate; mesoderm; musculature system; and pectoral fin. Used to study myofibrillar myopathy 1. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin).
Genome Resources: Alliance (1),  Gene:30148 (1),  Ensembl(GRCz11):ENSDARG00000058656 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
ct122aGt Transgenic Insertion Unknown Unknown DNA
ct122aRGt Transgenic Insertion Unknown Unknown
sa5 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa15298 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34555 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-desma N/A 1
    MO2-desma N/A 3
    MO3-desma N/A 1
    MO4-desma N/A 1
    MO5-desma N/A 1
    DISEASE ASSOCIATED WITH desma HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    dilated cardiomyopathy 1I Alliance ?Cardiomyopathy, dilated, 1I 604765
    myofibrillar myopathy 1 Alliance Myopathy, myofibrillar, 1 601419
    neurogenic scapuloperoneal syndrome Kaeser type Alliance Scapuloperoneal syndrome, neurogenic, Kaeser type 181400
    DISEASE ASSOCIATED WITH desma VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    myofibrillar myopathy 1 desmact122aGt/ct122aGt control Ramspacher et al., 2015
    desmasa5/sa5 control Ramspacher et al., 2015
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process muscle contraction (more)
    Cellular Component Z disc (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA desma-201 (1)    Ensembl 1774
    desma-202 (1)    Ensembl 1848
    ncRNA desma-003 (1) 859
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-desm polyclonal Rabbit IHC Sigma-Aldrich
    10
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM desma No data available
    MARKER RELATIONSHIPS
    desma Contained in: [BAC] CH73-129N15 (1)
    desma Encodes: [EST] cb290 (1) (order this), fb59a12 (order this)
    [cDNA] MGC:109859 (1), MGC:192695 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_130963 (1) 1798 nt
    Genomic GenBank:CU861474 (1) 89132 nt
    Select Tool
    Polypeptide UniProtKB:F1R8W3 (1) 488 aa
    Sequence Information (all 24)
    ORTHOLOGY for desma ( Chr: 9 )
    CITATIONS (74)