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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

HCOP human homology predictions: DES
Gene Tree: Des

Human
homologs
DES, desmin
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1674
neXtProt AC: NX_P17661

Human Synonyms: CSM1, CSM2, LGMD2R

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

Disease Associations: (4) Diseases Associated with Human DES

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(2) Radiation induced(1) Spontaneous(1) Targeted(6)
Genomic Mutations involving Des (2)
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 in Mice Using Des (2)    Mutations 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: (24 annotations)
Process muscle organ development
Component contractile fiber, cytoplasm, ...
Function cytoskeletal protein binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (233 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase des.1, LOC100490404 ; ZFIN desma, desmb    NEW 
Molecular
reagents
All nucleic(193) Genomic(3) cDNA(184) Primer pair(4) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000019416 (Evidence)
Ensembl Gene Model ENSMUSG00000026208 (Evidence)
Entrez Gene 13346 (Evidence)
UniGene 6712
DFCI TC1572490, TC1722689
DoTS DT.97367431
NIA Mouse Gene Index U000471
Consensus CDS Project CCDS15071.1
International Mouse Phenotyping Consortium Status Des
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:221983 Heude E, et al., Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. Hum Mol Genet. 2015 Mar 15;24(6):1670-81
All references(332)
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
07/28/2015
MGI 5.22
The Jackson Laboratory