Homo sapiens Gene: DES
Summary
InnateDB Gene IDBG-81709.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DES
Gene Name desmin
Synonyms CSM1; CSM2; LGMD2R;
Species Homo sapiens
Ensembl Gene ENSG00000175084
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:219418377-219426739
Strand Forward strand
Band q35
Transcripts
ENST00000373960 ENSP00000363071
ENST00000477226
ENST00000492726
ENST00000483395
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 43 [view]
Protein-Protein 43 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0042802 identical protein binding
Biological Process
GO:0006936 muscle contraction
GO:0007010 cytoskeleton organization
GO:0008016 regulation of heart contraction
GO:0030049 muscle filament sliding
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005882 intermediate filament
GO:0005916 fascia adherens
GO:0030018 Z disc
GO:0031594 neuromuscular junction
GO:0042383 sarcolemma
GO:0043292 contractile fiber
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Muscle contraction pathway
Striated Muscle Contraction pathway
KEGG
Hypertrophic cardiomyopathy (HCM) pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Dilated cardiomyopathy pathway
INOH
PID BIOCARTA
PID NCI
Aurora B signaling
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.732703
RefSeq NM_001927
HUGO
OMIM
CCDS CCDS33383
HPRD 00514
IMGT
EMBL
GenPept
RNA Seq Atlas