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Gene : DES Homo sapiens

Name  ? desmin Cytological Location  2q35
Brief Description  desmin
description  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]
  • synonyms:
  • LGMD2R,
  • CMD1I,
  • CSM2,
  • NM_001927,
  • uc002vll.3,
  • DES,
  • LGMD1E,
  • LGMD1D,
  • CSM1,
  • CDCD3,
  • CSM2,
  • CMD1F,
  • HGNC:2770,
  • AF521879,
  • OTTHUMG00000058924,
  • CSM1,
  • intermediate filament protein
  • identifiers:
  • 1674,
  • ENSG00000175084,
  • DES

Genome feature

Region: gene ? Length: 8363  
Location: 2:219418377-219426739 Cyto location: 2q35


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

13 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results