Aliases for DES Gene
Aliases for DES Gene
External Ids for DES Gene
- HGNC: 2770
- Entrez Gene: 1674
- Ensembl: ENSG00000175084
- OMIM: 125660
- UniProtKB: 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 Cytoskeletal Signaling and Arrhythmogenic right ventricular cardiomyopathy (ARVC). 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 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
- Monarch Initiative
- Search for DES at DataMed
- Search for DES at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DES Gene
Genomics for DES Gene
GeneHancer (GH) Regulatory Elements for DES Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DES gene promoter:
-
- AP-1
- TBP
- MyoD
- p53
- FOXO1a
- FOXO1
Regulatory Element Products
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:
-
- 2q35 by Entrez Gene
- 2q35 by HGNC
- 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:
Antibody Products
- R&D Systems Antibodies for DES (Desmin)
-
Custom Antibody ServicesOriGene Antibodies for DES
- AM06010PU-N
- AM06142PU-N
- AM20619PU-N
- AM32294PU-N
- AM32294SU-N
- AM33200PU-N
- AM33200PU-S
- AP06608PU-N
- AP08135PU-N
- AP08135PU-S
- AP12384PU-N
- AP20376PU-N
- AP33200SU-N
- BM5500
- BM5500P
- CF502328
- DP011
- DP011-05
- TA305636
- TA311932
- TA327670
- TA346083
- TA346084
- TA347369
- TA354681
- TA354682
- TA354683
- TA502328
- UM500107
- UM500107CF
- Novus Biologicals Antibodies for DES
-
Abcam antibodies for DES
- Invitrogen Antibodies for DES (AFLGC-DES)
- GeneTex DES Antibody for DES
-
Santa Cruz Biotechnology (SCBT) Antibodies for DES
- Sino Biological Antibodies for DES
Protein Products
-
OriGene Purified Proteins for DES
- Search Origene for MassSpec and Protein Over-expression Lysates for DES
- Origene Custom Protein Services for DES
- ProSpec Recombinant Proteins for DES
- Search GeneTex for Proteins for DES
-
ProSci Proteins for DES
-
Abcam proteins for DES
Assay Products
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:
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
| 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:
-
- Decreased HPV16-GFP infection
- Reduced mammosphere formation
- Decreased ionizing radiation sensitivity
- Decreased viability in esophageal squamous lineage
- Downregulation of Wnt pathway after Wnt3A stimulation
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DES
-
CRISPR Products
-
OriGene CRISPR knockouts for DES
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DES
- genomics-online: gRNA clones - Search results for 127 available Desmin gene related products
- Overview of 127 available Desmin gene related products
- Applied Biological Materials CRISPR for DES
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DES
- GenScript: Design CRISPR guide RNA sequences for DES
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 127 available Desmin gene related products
- Overview of 127 available Desmin gene related products
Clone Products
- 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
- Applied Biological Materials Clones for DES
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DES
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 |
| extracellular | 5 |
| cytosol | 5 |
| cytoskeleton | 4 |
| nucleus | 4 |
| mitochondrion | 3 |
- 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
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
| 2 | Dilated cardiomyopathy (DCM) | ||
| 3 | Striated Muscle Contraction | ||
| 4 | Cytoskeletal Signaling | ||
| 5 | ERK Signaling | ||
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
1 Qiagen pathway for DES Gene
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
| 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 |
Transcripts for DES Gene
mRNA/cDNA for DES Gene
- (1) REFSEQ mRNAs :
- (24) Additional mRNA sequences :
- (667) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000373960 2248 bps (uc002vll.3)
- ENST00000477226 760 bps (uc061sxf.1)
- ENST00000492726 706 bps (uc061sxg.1)
- ENST00000483395 462 bps (uc061sxi.1)
CRISPR Products
-
OriGene CRISPR knockouts for DES
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DES
- genomics-online: gRNA clones - Search results for 127 available Desmin gene related products
- Overview of 127 available Desmin gene related products
- Applied Biological Materials CRISPR for DES
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DES
- GenScript: Design CRISPR guide RNA sequences for DES
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 127 available Desmin gene related products
- Overview of 127 available Desmin gene related products
Clone Products
- 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
- Applied Biological Materials Clones for DES
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | - |
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
NURSA nuclear receptor signaling pathways regulating expression of DES Gene:
DESSOURCE GeneReport for Unigene cluster for DES Gene:
Hs.594952Evidence 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
Primer Products
-
OriGene qPCR primer pairs for DES
-
OriGene qPCR primer pairs and template standards for DES
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DES 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | DES 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DES 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DES 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Des 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Des 33 |
|
||
| chicken (Gallus gallus) |
Aves | DES 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DES 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | des.1 33 |
|
||
| MGC75911 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | des-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | desmb 34 |
|
OneToMany | |
| desma 34 |
|
OneToMany | |||
| desm 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8472 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.14901 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.14901 33 |
|
- 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
(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
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 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 | 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 | |
| rs1060503168 | uncertain-significance, Muscular dystrophy, limb-girdle, type 2r, Myofibrillar myopathy 1, not specified | 219,420,916(+) | A/C | coding_sequence_variant, missense_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DES Gene
Disorders for DES Gene
(127) MalaCards diseases for DES Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, myofibrillar, 1 |
|
|
| scapuloperoneal syndrome, neurogenic, kaeser type |
|
|
| muscular dystrophy, limb-girdle, type 2r |
|
|
| cardiomyopathy, dilated, 1i |
|
|
| myofibrillar myopathy |
|
|
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: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.
- Limb-girdle muscular dystrophy 2R (LGMD2R) [MIM:615325]: A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269 PubMed:23687351}. 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
Publications for DES Gene
- 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 22 58
- 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 22 58
- Prevalence of desmin mutations in dilated cardiomyopathy. (PMID: 17325244) Taylor MR … BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank (Circulation 2007) 3 22 44 58
- [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 22 44 58
- 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 22 44 58
Products for DES Gene
- R&D Systems Antibodies for DES (Desmin)
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- Custom Antibody ServicesOriGene Antibodies for DES
- AM06010PU-N
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- AM20619PU-N
- AM32294PU-N
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- AM33200PU-N
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- AP06608PU-N
- AP08135PU-N
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- AP12384PU-N
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- AP33200SU-N
- BM5500
- BM5500P
- CF502328
- DP011
- DP011-05
- TA305636
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- TA327670
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- TA354681
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- TA502328
- UM500107
- UM500107CF
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- OriGene qPCR primer pairs for DES
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- GenScript: Next-day shipping of latest version cDNA ORF clones for DES in any vector
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- ProSpec Recombinant Proteins for DES
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- Addgene plasmids for DES
- antibodies-online: Search results for 410 available Desmin Antibodies ranked by validation data
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- antibodies-online: Search results for 59 available Desmin Elisa Kits ranked by validation data
- Compare Top Desmin Elisa Kits
- antibodies-online: Search results for 27 available Desmin Proteins ranked by validation data
- Compare Top Desmin Proteins
- GeneTex DES Antibody for DES
- Search GeneTex for Proteins for DES
- Santa Cruz Biotechnology (SCBT) Antibodies for DES
- Search Santa Cruz Biotechnology (SCBT) for DES siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DES
- Search for DES Antibodies at ProSci
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- ProSci Proteins for DES
- Horizon Cell Lines for DES
- genomics-online: cdna clones - Search results for 127 available Desmin gene related products
- Overview of 127 available Desmin gene related products
- orf clones - Search results for 127 available Desmin gene related products
- Overview of 127 available Desmin gene related products
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- Overview of 127 available Desmin gene related products
- genomics-online: primer clones - Search results for 127 available Desmin gene related products
- Overview of 127 available Desmin gene related products
- genomics-online: shRNA clones - Search results for 127 available Desmin gene related products
- Overview of 127 available Desmin gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DES
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DES
- GeneCopoeia miRNA 3'UTR Target clone products for DES
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DES
Sources for DES Gene
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