DES Gene (Protein Coding)

Desmin

GC02P219418
GIFtS:
49
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, Ju... See more...

Aliases for DES Gene

Aliases for DES Gene

  • Desmin 2 3 4 5
  • Intermediate Filament Protein 2 3
  • Cardiomyopathy, Dilated 1F (Autosomal Dominant) 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Mutant Desmin P.K241E 3
  • LGMD1D 3
  • LGMD1E 3
  • LGMD2R 3
  • CDCD3 3
  • CMD1F 3
  • CSM1 3
  • CSM2 3

External Ids for DES Gene

Previous GeneCards Identifiers for DES Gene

  • GC02P218305
  • GC02P219004
  • GC02P220247
  • GC02P220485
  • GC02P220109
  • GC02P219991
  • GC02P220283
  • GC02P212136

Summaries for DES Gene

Entrez Gene Summary for DES Gene

  • 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]

GeneCards Summary for DES Gene

DES (Desmin) is a Protein Coding gene. Diseases associated with DES include Myopathy, Myofibrillar, 1 and Scapuloperoneal Syndrome, Neurogenic, Kaeser Type. Among its related pathways are Dilated cardiomyopathy (DCM) and Aurora B signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is VIM.

UniProtKB/Swiss-Prot Summary for DES Gene

  • Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity).

Gene Wiki entry for DES Gene

Additional gene information for DES Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DES Gene

Genomics for DES Gene

GeneHancer (GH) Regulatory Elements for DES Gene

Promoters and enhancers for DES Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J219415 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 750.6 +2.2 2220 10.4 LCORL MYC MAX NFIB EGR1 ZNF544 PKNOX1 NCOR1 NFIC ZFHX2 DES NONHSAG030583.2 DNPEP CNOT9 ASIC4 ENSG00000227432 STK36 GLB1L HSALNG0022377 ENSG00000234638
GH02J219244 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.2 -168.3 -168266 11.3 SIN3A ZNF24 SP1 ZBTB40 ZBTB6 MLX FOXA1 RBPJ POLR2A NR2F6 GLB1L TUBA4A STK16 NHEJ1 SLC23A3 USP37 CNOT9 CNPPD1 RNF25 DNPEP
GH02J218710 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.2 -707.1 -707063 2.6 ZNF785 SP1 CTCF SREBF1 SIX5 MLX RBPJ POLR2A USF2 HCFC1 TTLL4 NONHSAG030540.2 AAMP STK36 CNOT9 USP37 NHEJ1 RNF25 ZNF142 DES
GH02J219205 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.2 -211.2 -211193 3.2 SIN3A ZBTB6 MLX RBPJ POLR2A NR2F1 NR2F6 CREB1 MIXL1 RUNX1 HSALNG0022346 ZFAND2B CNOT9 RNF25 ZNF142 STK11IP GLB1L ENSG00000273466 AAMP DES
GH02J218670 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.1 -746.5 -746476 2.2 ZBTB40 RBPJ POLR2A ATF1 HCFC1 ZNF362 ETV6 ELF1 L3MBTL2 DACH1 HSALNG0022282 RNF25 STK36 NHEJ1 USP37 SLC23A3 DNPEP DES CNOT9 BCS1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DES on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DES gene promoter:
  • AP-1
  • FOXO1
  • FOXO1a
  • MyoD
  • p53
  • TBP

Genomic Locations for DES Gene

Genomic Locations for DES Gene
chr2:219,418,377-219,426,739
(GRCh38/hg38)
Size:
8,363 bases
Orientation:
Plus strand
chr2:220,283,099-220,291,461
(GRCh37/hg19)
Size:
8,363 bases
Orientation:
Plus strand

Genomic View for DES Gene

Genes around DES on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DES Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DES Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DES Gene

Proteins for DES Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DES Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17661-DESM_HUMAN
    Recommended name:
    Desmin
    Protein Accession:
    P17661
    Secondary Accessions:
    • Q15787
    • Q549R7
    • Q549R8
    • Q549R9
    • Q8IZR1
    • Q8IZR6
    • Q8NES2
    • Q8NEU6
    • Q8TAC4
    • Q8TCX2
    • Q8TD99
    • Q9UHN5
    • Q9UJ80

    Protein attributes for DES Gene

    Size:
    470 amino acids
    Molecular mass:
    53536 Da
    Quaternary structure:
    • Homopolymer (PubMed:21135508). Interacts with DST (By similarity). Interacts with MTM1 (PubMed:21135508). Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132). Interacts with CRYAB (PubMed:28470624). Interacts with NEB (via nebulin repeats 160-164) (PubMed:23615443). Interacts (via rod region) with NEBL (via nebulin repeats 1-5) (PubMed:27733623).

neXtProt entry for DES Gene

Protein Expression for DES Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DES Gene

  • ADP-ribosylation prevents ability to form intermediate filaments.
  • Phosphorylation at Ser-7, Ser-28 and Ser-32 by CDK1, phosphorylation at Ser-60 by AURKB and phosphorylation at Thr-76 by ROCK1 contribute to efficient separation of desmin intermediate filaments during mitosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DES Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for DES

No data available for DME Specific Peptides for DES Gene

Domains & Families for DES Gene

Gene Families for DES Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DES Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DES Gene

GenScript: Design optimal peptide antigens:
  • Desmin (DESM_HUMAN)
  • Desmin (Q5RLN0_HUMAN)
  • Desmin (Q5RLN1_HUMAN)
  • Desmin (Q5RLN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17661

UniProtKB/Swiss-Prot:

DESM_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with DES: view

Function for DES Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DES Gene

UniProtKB/Swiss-Prot Function:
Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity).
GENATLAS Biochemistry:
desmin,53kDa,found in smooth,cardiac and skeletal muscle,intermediate filament superfamily

Phenotypes From GWAS Catalog for DES Gene

Gene Ontology (GO) - Molecular Function for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 9736733
GO:0005515 protein binding IPI 11353857
GO:0008092 cytoskeletal protein binding IPI 11309420
GO:0042802 identical protein binding IPI 21135508
genes like me logo Genes that share ontologies with DES: view
genes like me logo Genes that share phenotypes with DES: view

Human Phenotype Ontology for DES Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DES Gene

MGI Knock Outs for DES:
  • Des Des<tm1Cba>
  • Des Des<tm1Cap>
  • Des Des<tm1Ltho>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for DES

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DES Gene

Localization for DES Gene

Subcellular locations from UniProtKB/Swiss-Prot for DES Gene

Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm. Cell membrane, sarcolemma. Nucleus. Note=Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (PubMed:24200904, PubMed:26724190). Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes (By similarity). {ECO:0000250 UniProtKB:P31001, ECO:0000269 PubMed:24200904, ECO:0000269 PubMed:26724190}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DES gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
nucleus 4
cytosol 4
mitochondrion 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament IEA,TAS --
genes like me logo Genes that share ontologies with DES: view

Pathways & Interactions for DES Gene

genes like me logo Genes that share pathways with DES: view

Pathways by source for DES Gene

2 Reactome pathways for DES Gene
1 GeneGo (Thomson Reuters) pathway for DES Gene
1 Qiagen pathway for DES Gene
  • Rho Family GTPases
1 Cell Signaling Technology pathway for DES Gene

SIGNOR curated interactions for DES Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 9697706
GO:0007010 cytoskeleton organization TAS 9736733
GO:0008016 regulation of heart contraction TAS 9697706
GO:0030049 muscle filament sliding TAS --
GO:0045109 intermediate filament organization IMP 24200904
genes like me logo Genes that share ontologies with DES: view

Drugs & Compounds for DES Gene

Products:

  1. Drug

(44) Drugs for DES Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(39) Additional Compounds for DES Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DES: view

Transcripts for DES Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DES Gene

(1) REFSEQ mRNAs :
(28) Additional mRNA sequences :
(667) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for DES

Alternative Splicing Database (ASD) splice patterns (SP) for DES Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: -
SP2: - -
SP3:
SP4: -

Relevant External Links for DES Gene

GeneLoc Exon Structure for
DES
ECgene alternative splicing isoforms for
DES

Expression for DES Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DES Gene

mRNA expression in normal human tissues for DES Gene
mRNA expression by GTEx for DES GenemRNA expression by BioGPS for DES Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DES Gene

This gene is overexpressed in Muscle - Skeletal (x10.1), Heart - Left Ventricle (x9.7), Esophagus - Muscularis (x5.3), Colon - Sigmoid (x5.0), Heart - Atrial Appendage (x4.3), and Esophagus - Gastroesophageal Junction (x4.2).

Protein differential expression in normal tissues from HIPED for DES Gene

This gene is overexpressed in Colon muscle (22.6), Urinary Bladder (15.9), and Gallbladder (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DES Gene



Protein tissue co-expression partners for DES Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DES Gene:

DES

SOURCE GeneReport for Unigene cluster for DES Gene:

Hs.594952

Evidence on tissue expression from TISSUES for DES Gene

  • Muscle(5)
  • Heart(4.8)
  • Intestine(4.7)
  • Liver(4.2)
  • Stomach(3.5)
  • Gall bladder(2.6)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DES Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tongue
Thorax:
  • clavicle
  • heart
  • heart valve
  • lung
  • scapula
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • rectum
Limb:
  • arm
  • elbow
  • foot
  • forearm
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with DES: view

No data available for mRNA Expression by UniProt/SwissProt for DES Gene

Orthologs for DES Gene

This gene was present in the common ancestor of chordates.

Orthologs for DES Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DES 33 32
  • 99.65 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DES 33
  • 97 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia DES 33
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia DES 33 32
  • 93.03 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DES 33 32
  • 92.77 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Des 17 33 32
  • 91.19 (n)
rat
(Rattus norvegicus)
 Mammalia Des 32
  • 90.62 (n)
chicken
(Gallus gallus)
 Aves DES 33 32
  • 81.54 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia DES 33
  • 88 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia des.1 32
  • 74.47 (n)
MGC75911 32
African clawed frog
(Xenopus laevis)
 Amphibia des-prov 32
zebrafish
(Danio rerio)
 Actinopterygii desmb 33
  • 73 (a)
 OneToMany
desma 33
  • 70 (a)
 OneToMany
desm 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8472 32
sea squirt
(Ciona savignyi)
 Ascidiacea Cin.14901 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.14901 32
Species where no ortholog for DES was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DES Gene

ENSEMBL:
Gene Tree for DES (if available)
TreeFam:
Gene Tree for DES (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DES: view image

Paralogs for DES Gene

Paralogs for DES Gene

(71) SIMAP similar genes for DES Gene using alignment to 6 proteins:

  • DESM_HUMAN
  • L7R9R4_HUMAN
  • L7RDA5_HUMAN
  • Q5RLN0_HUMAN
  • Q5RLN1_HUMAN
  • Q5RLN2_HUMAN
genes like me logo Genes that share paralogs with DES: view

Variants for DES Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for DES Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1014762661 uncertain-significance, Cardiomyopathy 219,418,978(+) G/A coding_sequence_variant, synonymous_variant
rs1057523274 likely-pathogenic, not provided, Myofibrillar myopathy 1 219,418,463(+) A/G initiator_codon_variant, missense_variant
rs1058261 benign, not specified, Cardiovascular phenotype, Myofibrillar myopathy 1, Myofibrillar Myopathy, Dominant, Scapuloperoneal weakness, Dilated Cardiomyopathy, Dominant 219,420,587(+) C/T coding_sequence_variant, synonymous_variant
rs1058284 benign, not specified, Cardiovascular phenotype, Myofibrillar Myopathy, Dominant, Scapuloperoneal weakness, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 1, not provided 219,421,420(+) G/A coding_sequence_variant, synonymous_variant
rs1060503165 pathogenic, Myofibrillar myopathy 1 219,418,856(+) C/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for DES Gene

Variant ID Type Subtype PubMed ID
nsv470518 CNV loss 18288195
nsv520958 CNV loss 19592680
nsv834544 CNV loss 17160897

Variation tolerance for DES Gene

Residual Variation Intolerance Score: 72.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DES Gene

Human Gene Mutation Database (HGMD)
DES
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DES

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DES Gene

Disorders for DES Gene

MalaCards: The human disease database

(141) MalaCards diseases for DES Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DES in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DESM_HUMAN
  • Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. {ECO:0000269 PubMed:10545598, ECO:0000269 PubMed:10717012, ECO:0000269 PubMed:10905661, ECO:0000269 PubMed:11061256, ECO:0000269 PubMed:11668632, ECO:0000269 PubMed:12620971, ECO:0000269 PubMed:12766977, ECO:0000269 PubMed:14648196, ECO:0000269 PubMed:14711882, ECO:0000269 PubMed:14724127, ECO:0000269 PubMed:15495235, ECO:0000269 PubMed:15800015, ECO:0000269 PubMed:16009553, ECO:0000269 PubMed:16376610, ECO:0000269 PubMed:16865695, ECO:0000269 PubMed:17221859, ECO:0000269 PubMed:18061454, ECO:0000269 PubMed:19879535, ECO:0000269 PubMed:20829228, ECO:0000269 PubMed:22106715, ECO:0000269 PubMed:22395865, ECO:0000269 PubMed:23615443, ECO:0000269 PubMed:23687351, ECO:0000269 PubMed:25394388, ECO:0000269 PubMed:27733623, ECO:0000269 PubMed:28470624, ECO:0000269 PubMed:9697706, ECO:0000269 PubMed:9736733}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535). {ECO:0000269 PubMed:19879535}.
  • Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:10430757, ECO:0000269 PubMed:24200904, ECO:0000269 PubMed:26724190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]: Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. {ECO:0000269 PubMed:17439987, ECO:0000269 PubMed:25394388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for DES Gene

desmin-related myopathy characterized by muscle weakness,associated with cardiac dilated cardiomyopathy,conduction blocks,arrhythmias restrictive heart failure,intestinal malabsorption and pseudoobstruction,desmin-reactive deposits in cardiac and skeletal muscle cells

Additional Disease Information for DES

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DES: view

Publications for DES Gene

  1. A dysfunctional desmin mutation in a patient with severe generalized myopathy. (PMID: 9736733) Muñoz-Mármol AM … Fuchs E (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 23 56
  2. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. (PMID: 19879535) van Tintelen JP … van den Berg MP (Heart rhythm 2009) 3 4 23 56
  3. Prevalence of desmin mutations in dilated cardiomyopathy. (PMID: 17325244) Taylor MR … BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank (Circulation 2007) 3 23 43 56
  4. [Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy]. (PMID: 16761416) Wang B … Chen XY (Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2006) 3 23 43 56
  5. Desmin mutations in a St. Petersburg cohort of cardiomyopathies. (PMID: 17626518) Kostareva A … Sejersen T (Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2006) 3 23 43 56

ExternalLinks

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Products for DES Gene

  • Addgene plasmids for DES