1. Gene
  2. Des - desmin Gene

Des - desmin Gene

Mus musculus
Gene ID: 13346 | Gene type: protein coding

About Des

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 and are essential for maintaining the strength and integrity of skeletal, cardiac and smooth muscle fibers. Mutations in this gene affect assembly of intermediate filaments. Mice lacking this gene are able to develop and reproduce but exhibit abnormal muscle fibers. Mutations in the human gene are associated with myofibrillar myopathy, dilated cardiomyopathy, neurogenic scapuloperoneal syndrome and autosomal recessive limb-girdle muscular dystrophy, type 2R. [provided by RefSeq, Jan 2014]

Des Products(1)

mRNA Protein Name
NM_010043.2 NP_034173.1 desmin
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
11694502 MGI
Biological Process GO Annotation Evidence Reference Source
involved in nuclear envelope organization IMP
IMP: Inferred from mutant phenotype
35959657 MGI
Cellular Component GO Annotation Evidence Reference Source
located in Z disc IDA
IDA: Inferred from direct assay
10532952 MGI
located in cell tip IDA
IDA: Inferred from direct assay
35959657 MGI
located in cell-cell junction IDA
IDA: Inferred from direct assay
24532688 MGI
located in contractile muscle fiber IDA
IDA: Inferred from direct assay
14627610 MGI
located in cytoplasm IDA
IDA: Inferred from direct assay
21177767 MGI
located in cytoskeleton IDA
IDA: Inferred from direct assay
11694502 MGI
located in fascia adherens IDA
IDA: Inferred from direct assay
11732910 MGI
colocalizes with intermediate filament IDA
IDA: Inferred from direct assay
16917092 MGI
located in neuromuscular junction IDA
IDA: Inferred from direct assay
11694502 MGI
located in nuclear envelope IDA
IDA: Inferred from direct assay
35959657 MGI
located in nucleus IDA
IDA: Inferred from direct assay
26787680 MGI
located in sarcolemma IDA
IDA: Inferred from direct assay
11694502 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

desmin

Orthologs Information

Species Symbol Source ID
Homo sapiens Des NCBI NCBI:1674
Rattus norvegicus Des NCBI NCBI:64362