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DES (desmin)

Identity

Other namesCSM1
CSM2
LGMD2R
HGNC (Hugo) DES
LocusID (NCBI) 1674
Location 2q35
Location_base_pair Starts at 220283099 and ends at 220291461 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)DES   2770
Cards
Entrez_Gene (NCBI)DES  1674  desmin
GeneCards (Weizmann)DES
Ensembl (Hinxton)ENSG00000175084 [Gene_View]  chr2:220283099-220291461 [Contig_View]  DES [Vega]
ICGC DataPortalENSG00000175084
AceView (NCBI)DES
Genatlas (Paris)DES
WikiGenes1674
SOURCE (Princeton)NM_001927
Genomic and cartography
GoldenPath (UCSC)DES  -  2q35   chr2:220283099-220291461 +  2q35   [Description]    (hg19-Feb_2009)
EnsemblDES - 2q35 [CytoView]
Mapping of homologs : NCBIDES [Mapview]
OMIM125660   181400   601419   604765   615325   
Gene and transcription
Genbank (Entrez)AF055081 AF055082 AF055083 AF137053 AF167579
RefSeq transcript (Entrez)NM_001927
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_008043 NT_005403 NW_001838865 NW_004929305
Consensus coding sequences : CCDS (NCBI)DES
Cluster EST : UnigeneHs.594952 [ NCBI ]
CGAP (NCI)Hs.594952
Alternative Splicing : Fast-db (Paris)GSHG0017215
Alternative Splicing GalleryENSG00000175084
Gene ExpressionDES [ NCBI-GEO ]     DES [ SEEK ]   DES [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17661 (Uniprot)
NextProtP17661  [Medical]
With graphics : InterProP17661
Splice isoforms : SwissVarP17661 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)DES    IF    Intermed_filament_DNA-bd    Intermediate_filament_CS   
Related proteins : CluSTrP17661
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
DMDM Disease mutations1674
Blocks (Seattle)P17661
Human Protein AtlasENSG00000175084
Peptide AtlasP17661
HPRD00514
IPIIPI00465084   
Protein Interaction databases
DIP (DOE-UCLA)P17661
IntAct (EBI)P17661
FunCoupENSG00000175084
BioGRIDDES
IntegromeDBDES
STRING (EMBL)DES
Ontologies - Pathways
QuickGOP17661
Ontology : AmiGOstructural constituent of cytoskeleton  protein binding  cytosol  intermediate filament  fascia adherens  muscle contraction  cytoskeleton organization  regulation of heart contraction  cytoskeletal protein binding  Z disc  muscle filament sliding  neuromuscular junction  sarcolemma  identical protein binding  
Ontology : EGO-EBIstructural constituent of cytoskeleton  protein binding  cytosol  intermediate filament  fascia adherens  muscle contraction  cytoskeleton organization  regulation of heart contraction  cytoskeletal protein binding  Z disc  muscle filament sliding  neuromuscular junction  sarcolemma  identical protein binding  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
Protein Interaction DatabaseDES
Wikipedia pathwaysDES
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DES
SNP (GeneSNP Utah)DES
SNP : HGBaseDES
Genetic variants : HAPMAPDES
1000_GenomesDES 
ICGC programENSG00000175084 
CONAN: Copy Number AnalysisDES 
Somatic Mutations in Cancer : COSMICDES 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
DECIPHER (Syndromes)2:220283099-220291461
Mutations and Diseases : HGMDDES
OMIM125660    181400    601419    604765    615325   
MedgenDES
GENETestsDES
Disease Genetic AssociationDES
Huge Navigator DES [HugePedia]  DES [HugeCancerGEM]
Genomic VariantsDES  DES [DGVbeta]
Exome VariantDES
dbVarDES
ClinVarDES
snp3D : Map Gene to Disease1674
General knowledge
Homologs : HomoloGeneDES
Homology/Alignments : Family Browser (UCSC)DES
Phylogenetic Trees/Animal Genes : TreeFamDES
Chemical/Protein Interactions : CTD1674
Chemical/Pharm GKB GenePA27253
Clinical trialDES
Cancer Resource (Charite)ENSG00000175084
Other databases
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
CoreMineDES
GoPubMedDES
iHOPDES
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:21:53 CET 2014

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