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Des desmin [ Rattus norvegicus (Norway rat) ]

Gene ID: 64362, updated on 24-Apr-2022

Summary

Official Symbol
Desprovided by RGD
Official Full Name
desminprovided by RGD
Primary source
RGD:620686
See related
Ensembl:ENSRNOG00000019810 AllianceGenome:RGD:620686
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable cytoskeletal protein binding activity and identical protein binding activity. Predicted to be involved in intermediate filament organization. Located in Z disc; gap junction; and type III intermediate filament. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Muscle (RPKM 8191.8), Heart (RPKM 4982.5) and 2 other tissues See more
Orthologs
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Genomic context

See Des in Genome Data Viewer
Location:
9q33
Exon count:
9
Annotation release Status Assembly Chr Location
108 current mRatBN7.2 (GCF_015227675.2) 9 NC_051344.1 (76850979..76858695)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 9 NC_005108.4 (82556574..82564288)

Chromosome 9 - NC_051344.1Genomic Context describing neighboring genes Neighboring gene regulated endocrine-specific protein 18 Neighboring gene aspartyl aminopeptidase Neighboring gene uncharacterized LOC102550477 Neighboring gene striated muscle enriched protein kinase Neighboring gene uncharacterized LOC120094713 Neighboring gene GDP-mannose pyrophosphorylase A

Genomic regions, transcripts, and products

Expression

  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
enables cytoskeletal protein binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intermediate filament organization IEA
Inferred from Electronic Annotation
more info
 
involved_in intermediate filament organization ISO
Inferred from Sequence Orthology
more info
 
involved_in intermediate filament organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal muscle organ development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in Z disc IEA
Inferred from Electronic Annotation
more info
 
located_in Z disc ISO
Inferred from Sequence Orthology
more info
 
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cardiac myofibril IEA
Inferred from Electronic Annotation
more info
 
located_in cardiac myofibril ISO
Inferred from Sequence Orthology
more info
 
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell-cell junction ISO
Inferred from Sequence Orthology
more info
 
located_in contractile fiber ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in fascia adherens IEA
Inferred from Electronic Annotation
more info
 
located_in fascia adherens ISO
Inferred from Sequence Orthology
more info
 
located_in gap junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in intercalated disc ISO
Inferred from Sequence Orthology
more info
 
located_in intercalated disc ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with intermediate filament ISO
Inferred from Sequence Orthology
more info
 
located_in intermediate filament cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
located_in neuromuscular junction ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
 
located_in sarcolemma ISO
Inferred from Sequence Orthology
more info
 
located_in sarcolemma ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in type III intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_022531.2NP_071976.2  desmin

    Status: PROVISIONAL

    Source sequence(s)
    JACYVU010000215
    Related
    ENSRNOP00000026860.3, ENSRNOT00000026860.5
    Conserved Domains (2) summary
    pfam00038
    Location:106414
    Filament; Intermediate filament protein
    pfam04732
    Location:9105
    Filament_head; Intermediate filament head (DNA binding) region

RefSeqs of Annotated Genomes: Rattus norvegicus Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference mRatBN7.2 Primary Assembly

Genomic

  1. NC_051344.1 Reference mRatBN7.2 Primary Assembly

    Range
    76850979..76858695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)