Bos taurus Gene: DES
Summary
InnateDB Gene IDBG-644007.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DES
Gene Name Desmin
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000005353
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000175084:
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 2:108075460-108082534
Strand Forward strand
Band
Transcripts
ENSBTAT00000007041 ENSBTAP00000007041
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 30 interaction(s) predicted by orthology.
Predicted by orthology
Total 30 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0042802 identical protein binding
Biological Process
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
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
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Muscle contraction pathway
Striated Muscle Contraction pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Striated Muscle Contraction pathway
Muscle contraction pathway
Striated Muscle Contraction pathway
Muscle contraction pathway
KEGG
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Hypertrophic cardiomyopathy (HCM) pathway
Dilated cardiomyopathy pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Hypertrophic cardiomyopathy (HCM) pathway
Dilated cardiomyopathy pathway
INOH
PID NCI
Aurora B signaling
Cross-References
SwissProt O62654
TrEMBL Q862F7
UniProt Splice Variant
Entrez Gene 280765
UniGene Bt.6141
RefSeq NM_001081575
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL AB011673 AB011675 AB099038 BC133410
GenPept AAI33411 BAA25133 BAA25135 BAC56528
RNA Seq Atlas 280765