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Des desmin [ Mus musculus (house mouse) ]

Gene ID: 13346, updated on 2-Apr-2024

Summary

Official Symbol
Desprovided by MGI
Official Full Name
desminprovided by MGI
Primary source
MGI:MGI:94885
See related
Ensembl:ENSMUSG00000026208 AllianceGenome:MGI:94885
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
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]
Expression
Biased expression in bladder adult (RPKM 808.0), stomach adult (RPKM 385.6) and 10 other tissues See more
Orthologs
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Genomic context

See Des in Genome Data Viewer
Location:
1 C4; 1 38.85 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (75336936..75345223)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (75360292..75368579)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene regulated endocrine-specific protein 18 Neighboring gene VISTA enhancer mm1372 Neighboring gene aspartyl aminopeptidase Neighboring gene desmin upstream regulatory region Neighboring gene predicted gene 15179 Neighboring gene SPEG complex locus Neighboring gene GDP-mannose pyrophosphorylase A Neighboring gene predicted gene, 53564

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cytoskeletal protein binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in intermediate filament organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within muscle organ development TAS
Traceable Author Statement
more info
PubMed 
involved_in skeletal muscle organ development IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in Z disc ISO
Inferred from Sequence Orthology
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
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in contractile fiber IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in fascia adherens IDA
Inferred from Direct Assay
more info
PubMed 
located_in gap junction ISO
Inferred from Sequence Orthology
more info
 
located_in intercalated disc ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
located_in intermediate filament cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in neuromuscular junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma ISO
Inferred from Sequence Orthology
more info
 
located_in type III intermediate filament ISO
Inferred from Sequence Orthology
more info
 

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_010043.2NP_034173.1  desmin

    See identical proteins and their annotated locations for NP_034173.1

    Status: REVIEWED

    Source sequence(s)
    AC166150, AK132391
    Consensus CDS
    CCDS15071.1
    UniProtKB/Swiss-Prot
    P31001
    UniProtKB/TrEMBL
    Q3V1K9, Q3V2C6
    Related
    ENSMUSP00000027409.10, ENSMUST00000027409.10
    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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    75336936..75345223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)