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Des Gene Detail
Summary
  • Symbol
    Des
  • Name
    desmin
  • Feature Type
    protein coding gene
  • IDs
    MGI:94885
    NCBI Gene: 13346
  • Gene Overview
    MyGene.info: DES
Location & Maps
more
  • Sequence Map
    Chr1:75360329-75368579 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8251 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 38.85 cM, cytoband C3
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    DES, desmin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DES, desmin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CSM1, CSM2, LGMD2R
  • Links
    NCBI Gene ID: 1674
    neXtProt AC: NX_P17661

  • Chr Location
    2q35; chr2:219418377-219426739 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 56469
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog
  • HCOP
    human homology predictions: DES
  • Gene Tree
    Des
Human Diseases
more
  • Diseases
    2 with Des mouse models; 4 with human DES associations

Human Disease Mouse Models
       Cardiomyopathy, Dilated, 1I; CMD1I   OMIM: 604765 View 1 model
Myopathy, Myofibrillar, 1; MFM1   OMIM: 601419 View 1 model
       Muscular Dystrophy, Limb-Girdle, Type 2r; LGMD2R   OMIM: 615325
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type; SCPNK   OMIM: 181400
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 4 alleles in 5 genetic backgrounds
    4 phenotypes from multigenic genotypes
    8 images
    72 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    7
  • Transgenic
    2
  • Genomic Mutations
    4 involving Des
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019416 VEGA Gene Model | MGI Sequence Detail 8251 C57BL/6J ±  kb
transcript OTTMUST00000046346 VEGA | MGI Sequence Detail 3028 Not Applicable  
polypeptide OTTMUSP00000020924 VEGA | MGI Sequence Detail 469 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    67 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
  • InterPro Domains
    IPR027698 Desmin
    IPR006821 Intermediate filament head, DNA-binding domain
    IPR001664 Intermediate filament protein
    IPR018039 Intermediate filament protein, conserved site
Molecular
Reagents
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  • All nucleic 193
    Genomic 3
    cDNA 184
    Primer pair 4
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-8830
References
more
  • Summaries
    All 355
    Developmental Gene Expression 253
    Diseases 2
    Gene Ontology 18
    Phenotypes 72
  • Earliest
    J:29340 Jackson BW, et al., Formation of cytoskeletal elements during mouse embryogenesis. Intermediate filaments of the cytokeratin type and desmosomes in preimplantation embryos. Differentiation. 1980;17(3):161-79
  • Latest
    J:231966 Zhang H, et al., Genetic lineage tracing identifies endocardial origin of liver vasculature. Nat Genet. 2016 May;48(5):537-43

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory