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Des
Gene Detail
Symbol

Name
ID
Des
desmin
MGI:94885
Feature Type
protein coding gene
Genetic Map
Chromosome 1
38.85 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(13)
Sequence Map
Chr1:75360329-75368579 bp, + strand
From VEGA annotation of GRCm38

  8251 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56469  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Gene Tree: Des

Human
homologs
Human Homolog DES, desmin
NCBI Gene ID 1674
neXtProt AC  NX_P17661
Human Synonyms  CSM1, CSM2, LGMD2R
Human Chr (Location)  2q35; chr2:219418377-219426739 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human DES
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(2) Spontaneous(1) Targeted(6)
Genomic Mutations involving Des (1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Des (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(8)
Interactions
Des interacts with 188 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process muscle organ development
Component contractile fiber, cytoplasm, ...
Function cytoskeletal protein binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (216 records)
Data Summary: Results (236)    Tissues (86)    Images (75)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 78
RNA in situ 123
Western blot 6
RT-PCR 29
cDNA source data(184)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(193) Genomic(3) cDNA(184) Primer pair(4) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000019416 (Evidence)
Ensembl Gene ModelENSMUSG00000026208 (Evidence)
Entrez Gene13346 (Evidence)
UniGene6712
DFCITC1572490, TC1722689
DoTSDT.97367431
NIA Mouse Gene IndexU000471
Consensus CDS ProjectCCDS15071.1
International Mouse Knockout Project StatusDes
Sequences
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 sequences
All sequences(27) RefSeq(2) UniProt(3)
Polymorphisms
All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs within 2kb(66 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006821 Intermediate filament head, DNA-binding domain
InterPro IPR001664 Intermediate filament protein
InterPro IPR018039 Intermediate filament protein, conserved site
Protein Ontology PR:000006427 desmin
References
(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:210584 van Berlo JH, et al., c-kit+ cells minimally contribute cardiomyocytes to the heart. Nature. 2014 May 15;509(7500):337-41
All references(314)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-8830

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
10/08/2014
MGI 5.20
The Jackson Laboratory