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Gene Ontology Classifications

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Des. (This text reflects annotations as of Tuesday, May 26, 2015.)
Summary from NCBI RefSeq

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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Clemen CS et al. (2015) The toxic effect of R350P mutant desmin in striated muscle of man and mouse. Acta Neuropathol, 129:297-315. (PubMed:25394388)
  2. Dominov JA et al. (2001) Pro- and anti-apoptotic members of the bcl-2 family in skeletal muscle: A distinct role for bcl-2 in later stages of myogenesis Dev Dyn, 220:18-26. (PubMed:11146504)
  3. Hnia K et al. (2011) Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest, 121:70-85. (PubMed:21135508)
  4. Koh TJ et al. (2004) Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions. Am J Physiol Cell Physiol, 286:C713-22. (PubMed:14627610)
  5. Kramerova I et al. (2004) Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Hum Mol Genet, 13:1373-88. (PubMed:15138196)
  6. Picchione F et al. (2011) IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). Carcinogenesis, 32:452-61. (PubMed:21177767)
  7. Poon E et al. (2002) Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. J Biol Chem, 277:3433-9. (PubMed:11694502)
  8. Yang Q et al. (1999) In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy. Circ Res, 85:841-7. (PubMed:10532952)
  9. Yang Z et al. (2006) Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res, 99:646-55. (PubMed:16917092)
  10. Zhang JQ et al. (2001) Ultrastructural and Biochemical Localization of N-RAP at the Interface between Myofibrils and Intercalated Disks in the Mouse Heart. Biochemistry, 40:14898-906. (PubMed:11732910)

Go Annotations in Tabular Form (Text View) (GO Graph)

Filter Markers by: Category  Evidence Code 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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