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(14)

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

Gene Tree: Des

Human homologs

Human Homolog		DES, desmin
NCBI Gene ID		1674
neXtProt AC		NX_P17661
Human Synonyms		CSM1, CSM2
Human Chr (Location)		2q35; chr2:220283099-220291461 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human DES

Alleles and phenotypes

All alleles(8) : Targeted(6) Gene trapped(2)
 

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(1)    Phenotype Images(8)

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	muscle organ development
Component	contractile fiber, cytoplasm, ...
Function	cytoskeletal protein binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (197 records)
Data Summary: Results (233)    Tissues (80)    Images (75)
Theiler Stages: 13, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	75
RNA in situ	123
Western blot	6
RT-PCR	29

cDNA source data(182)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(191) Genomic(3) cDNA(182) 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 Knockout Project Status	Des

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019416	VEGA Gene Model | MGI Sequence Detail	8251	C57BL/6J
transcript	OTTMUST00000046346	VEGA | MGI Sequence Detail	3028	Not Applicable
polypeptide	OTTMUSP00000020924	VEGA | MGI Sequence Detail	469	Not Applicable

All sequences(27) RefSeq(2) UniProt(3)

Polymorphisms

All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs(48 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR016044	Filament
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:194480 Ma S, et al., Radial glial neural progenitors regulate nascent brain vascular network stabilization via inhibition of Wnt signaling. PLoS Biol. 2013 Jan;11(1):e1001469
All references(292)

Other accession IDs

MGD-MRK-8830