Des desmin [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner.
Title: Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner.
Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
Title: Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues.
Title: The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues.
Desmin interacts with STIM1 and coordinates Ca2+ signaling in skeletal muscle.
Title: Desmin interacts with STIM1 and coordinates Ca2+ signaling in skeletal muscle.
Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Title: Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Drp1 overexpression induces desmin disassembling and drives kinesin-1 activation promoting mitochondrial trafficking in skeletal muscle.
Title: Drp1 overexpression induces desmin disassembling and drives kinesin-1 activation promoting mitochondrial trafficking in skeletal muscle.
Desmin is essential for the structure and function of the sinoatrial node: implications for increased arrhythmogenesis.
Title: Desmin is essential for the structure and function of the sinoatrial node: implications for increased arrhythmogenesis.
phosphorylation of desmin filaments by GSK3-beta is a key molecular event required for calpain-1-mediated depolymerization, and the subsequent myofibril destruction.
Title: GSK3-β promotes calpain-1-mediated desmin filament depolymerization and myofibril loss in atrophy.
In experimental pressure-overload-induced heart failure, toxic cardiac preamyloid oligomers (PAOs) in the myocardium of mice subjected to transverse aortic constriction comigrate with the cytoskeletal protein desmin. There was a 5-fold increase in desmin. Wild-type desmin generates PAOs in cryAB (alpha-B-crystallin) mice.
Title: Desmin Phosphorylation Triggers Preamyloid Oligomers Formation and Myocyte Dysfunction in Acquired Heart Failure.
Data suggest that mutated desmin markedly impedes myocyte structure and function at pre-symptomatic stages of myofibrillar myopathies.
Title: Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67372 (e-PCR)
- UniSTS:186401

Des (e-PCR), detects polymorphism
- UniSTS:463408

stSG632979 (e-PCR)
- UniSTS:460346

Des (e-PCR), detects polymorphism
- UniSTS:238157

PMC209322P1 (e-PCR)
- UniSTS:271986

D1Mcg7 (e-PCR), detects polymorphism
- UniSTS:142240

Des (e-PCR), detects polymorphism
- UniSTS:142845

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 nuclear envelope organization	IMP Inferred from Mutant Phenotype 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
located_in cell tip	IDA Inferred from Direct Assay more info	PubMed
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 muscle 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 nuclear envelope	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

General protein information

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Preferred Names: desmin

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.