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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
External Ids for DES Gene
- HGNC: 2770
- NCBI Entrez Gene: 1674
- Ensembl: ENSG00000175084
- OMIM®: 125660
- UniProtKB/Swiss-Prot: P17661
Previous GeneCards Identifiers for DES Gene
- GC02P218305
- GC02P219004
- GC02P220247
- GC02P220485
- GC02P220109
- GC02P219991
- GC02P220283
- GC02P212136
Summaries 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 Aurora B signaling and Cytoskeletal 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).
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 Pubs
Promoters and enhancers for DES Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DES
- Top Transcription factor binding sites by QIAGEN in the DES gene promoter:
-
- AP-1
- FOXO1
- FOXO1a
- MyoD
- p53
- TBP
Genomic Locations for DES Gene
Latest Assembly
- chr2:219,418,377-219,426,734
- (GRCh38/hg38)
- Size:
- 8,358 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:220,283,099-220,291,456
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 8,358 bases
- Orientation:
- Plus strand
Genomic View for DES Gene
Genes around DES on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q35 by HGNC
- 2q35 by Entrez Gene
- 2q35 by Ensembl
DES Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DES Gene
Proteins for DES Gene
-
Protein details for DES Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P17661-DESM_HUMAN
- Recommended name:
- Desmin
- Protein Accession:
- P17661
- 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).
Protein Expression for DES Gene
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:
Antibodies for research
- LifeSpan BioSciences DES / Desmin Monoclonal Antibody (LS-B3122) and DES / Desmin Monoclonal Antibody (LS-B7175)
- GeneTex Anti-Desmin antibody and Anti-Desmin antibody [D33]
- NSJ Bioreagents Desmin Antibody (Mouse Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for DES
- Novus Biologicals Antibodies for DES
-
Abcam antibodies for DES
- Invitrogen Antibodies for DES (AFLGC-DES)
-
Santa Cruz Biotechnology (SCBT) Antibodies for DES
- Sino Biological Antibodies for DES
Protein products for research
- G Biosciences Human Desmin/DES, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for DES
- Origene Custom Protein Services for DES
- ProSpec Recombinant Proteins for DES
-
ProSci Proteins for DES
-
Abcam proteins for DES
Assay products for research
- G Biosciences Immunotagā¢ Human Des (Desmin) ELISA and Immunotagā¢ Desmin ELISA Kit
- RayBiotech Human Desmin ELISA
- Novus Biologicals ELISA Kits for DES
-
Boster Bio ELISA Kits 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
- InterPro:
- Blocks:
-
- Intermediate filament protein
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- Family:
-
- Belongs to the intermediate filament family.
Function for DES Gene
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
| 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 |
Phenotypes for DES Gene
- MGI mutant phenotypes for DES:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for DES:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DES - Starting at $85 >
- * DES CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DES
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DES
-
Santa Cruz Biotechnology (SCBT) CRISPR for DES
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DES
- Browse OriGene Inhibitory RNA Products For DES
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DES
Clone products for research
- Applied Biological Materials (abm): Clones for DES - Starting at $45 >
- * DES as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DES
- Addgene plasmids for DES
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DES
Cell Lines for research
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| extracellular | 4 |
| cytoskeleton | 4 |
| nucleus | 4 |
| mitochondrion | 3 |
| golgi apparatus | 1 |
- Intermediate filaments (3)
| 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 | TAS,IEA | -- |
Pathways & Interactions for DES Gene
Pathways by source for DES Gene
3 BioSystems pathways for DES Gene
2 Reactome pathways for DES Gene
3 KEGG pathways for DES Gene
1 GeneGo (Thomson Reuters) pathway for DES Gene
- Cytoskeleton remodeling Neurofilaments
1 R&D Systems pathway for DES Gene
1 Qiagen pathway for DES Gene
- Rho Family GTPases
1 Cell Signaling Technology pathway for DES Gene
Interacting Proteins for DES Gene
Selected Interacting proteins:
P17661-DESM_HUMAN
ENSP00000363071
for DES Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for DES
SIGNOR curated interactions 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 |
Drugs & Compounds for DES Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug products for research
- G Biosciences Human Desmin/DES, Lyophilized
Transcripts for DES Gene
mRNA/cDNA for DES Gene
- 7 REFSEQ mRNAs :
- 28 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000373960 2243 nts (view in UCSC)
- ENST00000477226 760 nts (view in UCSC)
- ENST00000483395 462 nts (view in UCSC)
- ENST00000492726 706 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DES - Starting at $85 >
- * DES CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DES
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DES
-
Santa Cruz Biotechnology (SCBT) CRISPR for DES
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DES
- Browse OriGene Inhibitory RNA Products For DES
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DES
Clone products for research
- Applied Biological Materials (abm): Clones for DES - Starting at $45 >
- * DES as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DES
- Addgene plasmids for DES
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DES
| 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
Expression for DES Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Skeletal Muscle (Muscoskeletal System)
- Somite (Muscoskeletal System)
-
Limb (Muscoskeletal System)
- Myoblasts Hindlimb Ventral Muscle
- Mononuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Mononuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
-
Liver (Hepatobiliary System)
- Fetal Hepatic Stellate Cells Sinusoids
- Submesothelial Cells Mesoblastic Supporting Stroma
- Pericytes Sinusoids
- Pre-stellate Cells Mesoblastic Supporting Stroma
- Hepatic Stellate Cells Sinusoids
-
Heart (Cardiovascular System)
- Cardiomyocytes Right Ventricle
- Cardiomyocytes Myocardium
- Cardiomyocyte-like cells(Kehat I et. al. 2001)
-
Testis (Reproductive System)
- Peritubular Myoid Cells Testis Cord
-
Gonad
- Peritubular Myoid Cells Testis Cord
-
Brain (Nervous System)
- Pericytes Blood Brain Barrier
- Gut Tube (Gastrointestinal Tract)
- Intestine (Gastrointestinal Tract)
- Smooth Muscle (Muscoskeletal System)
- NULL (Uncategorized)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Larynx (Respiratory System)
-
Stomach (Gastrointestinal Tract)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DES
SOURCE GeneReport for Unigene cluster for DES Gene:
Hs.594952Evidence on tissue expression from TISSUES for DES Gene
- Muscle(5)
- Heart(4.8)
- Intestine(4.8)
- 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
Primer products for research
-
OriGene qPCR primer pairs for DES
-
OriGene qPCR primer pairs and template standards for DES
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DES 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DES 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DES 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DES 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DES 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Des 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Des 29 |
|
||
| Chicken (Gallus gallus) |
Aves | DES 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DES 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | des.1 29 |
|
||
| MGC75911 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | des-prov 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | desmb 30 |
|
OneToMany | |
| desma 30 |
|
OneToMany | |||
| desm 29 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8472 29 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14901 29 |
|
- Species where no ortholog for DES was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for DES
Paralogs for DES Gene
Paralogs for DES Gene
- VIM 5
- PRPH 5
- GFAP 5
- INA 5
- NEFL 5
- NEFM 5
- KRT8 5
- KRT84 5
- KRT75 5
- KRT6C 5
- KRT79 5
- KRT7 5
- KRT6B 5
- KRT6A 5
- KRT5 5
- KRT74 5
- KRT77 5
- KRT76 5
- KRT14 5
- KRT82 5
- KRT71 5
- KRT72 5
- KRT73 5
- KRT2 5
- KRT1 5
- KRT3 5
- KRT4 5
- KRT17 5
- KRT85 5
- KRT78 5
- KRT18 5
- KRT24 5
- KRT20 5
- KRT15 5
- KRT16 5
- KRT81 5
- KRT83 5
- KRT10 5
- LMNB2 5
- LMNB1 5
- KRT86 5
- KRT28 5
- KRT12 5
- KRT36 5
- KRT13 5
- KRT19 5
- KRT80 5
- KRT26 5
- KRT27 5
- KRT37 5
- KRT38 5
- KRT23 5
- KRT40 5
- KRT33A 5
- KRT35 5
- KRT9 5
- LMNA 5
- KRT25 5
- KRT39 5
- KRT33B 5
- KRT34 5
- KRT31 5
- KRT32 5
- BFSP2 5
- SYNM 5
- NES 5
- LMNTD1 5
- ENSG00000264058 5
- KRT222 5
(71) SIMAP similar genes for DES Gene using alignment to 6 proteins:
- DESM_HUMAN
- L7R9R4_HUMAN
- L7RDA5_HUMAN
- Q5RLN0_HUMAN
- Q5RLN1_HUMAN
- Q5RLN2_HUMAN
- tmp_locus_29
- VIM
- KRTHB6
- PRPH
- DKFZp761K0922
- GFAP
- KRT79
- NES
- LMNB2
- SYNM
- NEFM
- KRT4
- INA
- KRT3
- KRTHB1
- LMNB1
- KRT80
- KRT1B
- KRT1
- IFFO2
- NEFL
- KRT9
- KRT23
- JUP
- KRT77
- KRT8
- KRT85
- KRT78
- KRT121P
- IFFO1
- KRT81
- KRT2
- KRT5
- KRT72
- KRT7
- NEFH
- KRT13
- keratin
- KRT33A
- KRT31
- KRT86
- KRT6C
- KRT6B
- KRT6A
- KRT17
- DKFZp586I2223
- KRT15
- KRT83
- KRTHA7
- KRT33B
- KRT75
- KRT73
- KRT14
- KRTHB2
- KRT84
- KRT82
- KRT71
- KRT40
- KRT10
- KRT74
- KRT16
- KRT19
- KRT35
- K14
- KRT76
- KRT18
- KRT24
- KRT27
- KRT20
- KRT36
- KRT12
Variants for DES Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DES Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1001225 | Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,420,599(+) |
G/C NM_001927.4(DES):c.840G>C (p.Gln280His) |
MISSENSE_VARIANT,INTRON | |
| 1002791 | Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,418,499(+) |
T/C NM_001927.4(DES):c.37T>C (p.Ser13Pro) |
MISSENSE | |
| 1002861 | Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,418,866(+) |
C/G NM_001927.4(DES):c.404C>G (p.Ala135Gly) |
MISSENSE | |
| 1003944 | Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,421,521(+) |
T/G NM_001927.4(DES):c.1205T>G (p.Ile402Ser) |
MISSENSE | |
| 1006716 | Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,421,415(+) |
A/C NM_001927.4(DES):c.1099A>C (p.Ile367Leu) |
MISSENSE_VARIANT,INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DES Gene
Disorders for DES Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, myofibrillar, 1 |
|
|
| scapuloperoneal syndrome, neurogenic, kaeser type |
|
|
| cardiomyopathy, dilated, 1i |
|
|
| myofibrillar myopathy |
|
|
| familial isolated dilated cardiomyopathy |
|
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 variants 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 variants 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 variants 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
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
Publications for DES Gene
- 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 ā¦ van den Berg MP (Heart rhythm 2009) 3 4 22 72
- Prevalence of desmin mutations in dilated cardiomyopathy. (PMID: 17325244) Taylor MR ā¦ BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank (Circulation 2007) 3 22 40 72
- On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. (PMID: 12620971) Schröder R ā¦ Vicart P (Human molecular genetics 2003) 3 4 22 72
- A dysfunctional desmin mutation in a patient with severe generalized myopathy. (PMID: 9736733) Muñoz-Mármol AM ā¦ Fuchs E (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22
- Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. (PMID: 18061454) Pica EC ā¦ Yee WC (Neuromuscular disorders : NMD 2008) 3 4 72
ExternalLinks
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Sources for DES Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26)