Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DES (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1674
Official gene symbolDES
Full namedesmin
Aliases,CMD1I,CSM1,CSM2,FLJ12025,FLJ39719,FLJ41013,FLJ41793,
Gene summaryThis 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]
LocationChromosome: 2   Locus: 2q35
Gene position220283099 - 220291461  Map Viewer
Gene orientationplus
Gene size8363 bp
Gene sequence
OMIM ID125660