InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Des

Summary

InnateDB Gene

IDBG-170899.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Des

Gene Name

desmin

Synonyms

Species

Mus musculus

Ensembl Gene

ENSMUSG00000026208

Encoded Proteins

IDBP-170901

desmin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:75360329-75368579

Strand

Forward strand

Band

Transcripts

ENSMUST00000027409	ENSMUSP00000027409
ENSMUST00000144894
ENSMUST00000125948

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 30 interaction(s) predicted by orthology.

Experimentally validated
Total	21 [view]
Protein-Protein	20 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	30 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0042802	identical protein binding

Biological Process

GO:0007517

muscle organ development

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005882	intermediate filament
GO:0005916	fascia adherens
GO:0030018	Z disc
GO:0031594	neuromuscular junction
GO:0042383	sarcolemma
GO:0043292	contractile fiber

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000175084

View Gene Order

ENSBTAG00000005353

Not yet available

Pathways

NETPATH

REACTOME

REACT_232053

Striated Muscle Contraction pathway

REACT_262759

Muscle contraction pathway

KEGG

mmu05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway

mmu05410

Hypertrophic cardiomyopathy (HCM) pathway

mmu05414

Dilated cardiomyopathy pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

REACT_16969

Striated Muscle Contraction pathway

REACT_17044

Muscle contraction pathway

REACT_213099

Muscle contraction pathway

REACT_223821

Striated Muscle Contraction pathway

KEGG

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway

hsa05410

Hypertrophic cardiomyopathy (HCM) pathway

hsa05414

Dilated cardiomyopathy pathway

INOH

PID NCI

aurora_b_pathway

Aurora B signaling

Cross-References

SwissProt

P31001

TrEMBL

Q3V1K9 Q9JJY2

UniProt Splice Variant

Entrez Gene

13346

UniGene

Mm.6712

RefSeq

NM_010043

OMIM

CCDS

CCDS15071

HPRD

IMGT

MGI ID

MGI:94885

MGI Symbol

Des

EMBL

AJ250633 AK132391 BC031760 L22550 Z18892

GenPept

AAH31760 BAE21141 CAA79330 CAB93654

RNA Seq Atlas

13346