DES - desmin Gene
Also Known as CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R
Species: Homo sapiens
About DES
This gene has 5 transcripts (splice variants), 276 orthologues, 68 paralogues and is associated with 8 phenotypes. Biased expression in heart (RPKM 2605.8), esophagus (RPKM 953.7) and 6 other tissues.
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. 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]
DES Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001382708.1 | NP_001369637.1 | desmin isoform 2 |
| NM_001382709.1 | NP_001369638.1 | desmin isoform 3 |
| NM_001382710.1 | NP_001369639.1 | desmin isoform 4 |
| NM_001382711.1 | NP_001369640.1 | desmin isoform 5 |
| NM_001382712.1 | NP_001369641.1 | desmin isoform 6 |
| NM_001382713.1 | NP_001369642.1 | desmin isoform 7 |
| NM_001927.4 | NP_001918.3 | desmin isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cytoskeletal protein binding |
IPI
IPI: Inferred from physical interaction
|
11309420 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
21135508 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11353857 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in intermediate filament organization |
IMP
IMP: Inferred from mutant phenotype
|
24200904 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Z disc |
IDA
IDA: Inferred from direct assay
|
9415431 | GOA |
| located in cardiac myofibril |
IDA
IDA: Inferred from direct assay
|
25771144 | GOA |
| located in intercalated disc |
IDA
IDA: Inferred from direct assay
|
24200904 | GOA |
| located in sarcolemma |
IDA
IDA: Inferred from direct assay
|
25394388 | GOA |
DES Protein Structure
Filament_head: Intermediate filament head (DNA binding) region (9 - 106)
Filament: Intermediate filament protein (107 - 415)
- 0
- 100
- 200
- 300
- 400
- 470 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
desmin |
|
DES Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DES | P17661 | PIH1D2 | Homo sapiens | Q8WWB5 | 32296183 | |
|
Intra
|
DES | P17661 | PIH1D2 | Homo sapiens | Q8WWB5 | 32296183 | |
|
Intra
|
DES | P17661 | PIH1D2 | Homo sapiens | Q8WWB5 | 32296183 | |
|
Intra
|
DES | P17661 | KRT37 | Homo sapiens | O76014 | 32296183 | |
|
Intra
|
DES | P17661 | KRT37 | Homo sapiens | O76014 | 32296183 | |
|
Intra
|
DES | P17661 | KRT33B | Homo sapiens | Q14525 | 32296183 | |
|
Intra
|
DES | P17661 | KRT33B | Homo sapiens | Q14525 | 32296183 | |
|
Intra
|
DES | P17661 | KRT33B | Homo sapiens | Q14525 | 32296183 | |
|
Intra
|
DES | P17661 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
DES | P17661 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
DES | P17661 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
DES | P17661 | VIM | Homo sapiens | P08670 | 27107012 | |
|
Intra
|
DES | P17661 | PRPH | Homo sapiens | P41219 | 33961781 | |
|
Intra
|
DES | P17661 | VIM | Homo sapiens | P08670 | 32296183 | |
|
Intra
|
DES | P17661 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
DES | P17661 | NEFL | Homo sapiens | P07196 | 27107012 | |
|
Intra
|
DES | P17661 | VIM | Homo sapiens | P08670 | 33961781 | |
|
Intra
|
DES | P17661 | NEFL | Homo sapiens | P07196 | 32296183 | |
|
Intra
|
DES | P17661 | PRPH | Homo sapiens | P41219 | 32814053 | |
|
Intra
|
DES | P17661 | VIM | Homo sapiens | P08670 | 27107012 | |
|
Intra
|
DES | P17661 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
DES | P17661 | PRPH | Homo sapiens | P41219 | 32296183 | |
|
Intra
|
DES | P17661 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
DES | P17661 | VIM | Homo sapiens | P08670 | 32296183 | |
|
Intra
|
DES | P17661 | PRPH | Homo sapiens | P41219 | 32814053 | |
|
Intra
|
DES | P17661 | NEFL | Homo sapiens | P07196 | 33961781 | |
|
Intra
|
DES | P17661 | NEFL | Homo sapiens | P07196 | 32296183 | |
|
Intra
|
DES | P17661 | PRPH | Homo sapiens | P41219 | 32814053 | |
|
Intra
|
DES | P17661 | TFIP11 | Homo sapiens | Q9UBB9 | 32296183 | |
|
Intra
|
DES | P17661 | TFIP11 | Homo sapiens | Q9UBB9 | 32296183 | |
|
Intra
|
DES | P17661 | TFIP11 | Homo sapiens | Q9UBB9 | 32296183 | |
|
Intra
|
DES | P17661 | DUX1 | Homo sapiens | O43812 | 26816005 | |
|
Intra
|
DES | P17661 | DUX4 | Homo sapiens | Q9UBX2 | 26816005 | |
|
Intra
|
DES | P17661 | NEK6 | Homo sapiens | Q9HC98-4 | 32296183 | |
|
Intra
|
DES | P17661 | KRT13 | Homo sapiens | P13646 | 32296183 | |
|
Intra
|
DES | P17661 | KRT13 | Homo sapiens | P13646 | 32296183 | |
|
Intra
|
DES | P17661 | ZMYM5 | Homo sapiens | Q9UJ78-2 | 32296183 | |
|
Intra
|
DES | P17661 | ZMYM5 | Homo sapiens | Q9UJ78-2 | 32296183 | |
|
Intra
|
DES | P17661 | ZMYM5 | Homo sapiens | Q9UJ78-2 | 32296183 | |
|
Intra
|
DES | P17661 | LBX1 | Homo sapiens | P52954 | 32296183 | |
|
Intra
|
DES | P17661 | LBX1 | Homo sapiens | P52954 | 32296183 | |
|
Intra
|
DES | P17661 | LBX1 | Homo sapiens | P52954 | 32296183 | |
|
Intra
|
DES | P17661 | EHHADH | Homo sapiens | Q08426 | 25416956 | |
|
Intra
|
DES | P17661 | EHHADH | Homo sapiens | Q08426 | 25416956 | |
|
Intra
|
DES | P17661 | EHHADH | Homo sapiens | Q08426 | 32296183 | |
|
Intra
|
DES | P17661 | EHHADH | Homo sapiens | Q08426 | 25416956 | |
|
Intra
|
DES | P17661 | RNF4 | Homo sapiens | P78317 | 32296183 | |
|
Intra
|
DES | P17661 | RNF4 | Homo sapiens | P78317 | 32296183 | |
|
Intra
|
DES | P17661 | RNF4 | Homo sapiens | P78317 | 32296183 | |
|
Intra
|
DES | P17661 | PPP1R18 | Homo sapiens | Q6NYC8 | 25416956 | |
|
Intra
|
DES | P17661 | PPP1R18 | Homo sapiens | Q6NYC8 | 32296183 | |
|
Intra
|
DES | P17661 | PPP1R18 | Homo sapiens | Q6NYC8 | 25416956 | |
|
Intra
|
DES | P17661 | LONRF3 | Homo sapiens | Q496Y0 | 32296183 | |
|
Intra
|
DES | P17661 | LMO4 | Homo sapiens | P61968 | 32296183 | |
|
Intra
|
DES | P17661 | MTM1 | Homo sapiens | Q13496 | 21135508 | |
|
Intra
|
DES | P17661 | MTM1 | Homo sapiens | Q13496 | 21135508 | |
|
Intra
|
DES | P17661 | MTM1 | Homo sapiens | Q13496 | 21135508 | |
|
Intra
|
DES | P17661 | MTM1 | Homo sapiens | Q13496 | 21135508 | |
|
Intra
|
DES | P17661 | MTM1 | Homo sapiens | Q13496 | 21135508 | |
|
Intra
|
DES | P17661 | MTM1 | Homo sapiens | Q13496 | 21135508 | |
|
Intra
|
DES | P17661 | MTM1 | Homo sapiens | Q13496 | 21135508 | |
|
Intra
|
DES | P17661 | KRT75 | Homo sapiens | O95678 | 32296183 | |
|
Intra
|
DES | P17661 | KRT75 | Homo sapiens | O95678 | 32296183 | |
|
Intra
|
DES | P17661 | POLR2G | Homo sapiens | P62487 | 32296183 | |
|
Intra
|
DES | P17661 | POLR2G | Homo sapiens | P62487 | 32296183 | |
|
Intra
|
DES | P17661 | POLR2G | Homo sapiens | P62487 | 32296183 | |
|
Intra
|
DES | P17661 | PIAS2 | Homo sapiens | O75928-2 | 32296183 | |
|
Intra
|
DES | P17661 | PIAS2 | Homo sapiens | O75928-2 | 32296183 | |
|
Intra
|
DES | P17661 | DDX6 | Homo sapiens | P26196 | 32296183 | |
|
Intra
|
DES | P17661 | BAG5 | Homo sapiens | Q9UL15 | 32296183 | |
|
Intra
|
DES | P17661 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
DES | P17661 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
DES | P17661 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
DES | P17661 | CWF19L2 | Homo sapiens | Q2TBE0 | 32296183 | |
|
Intra
|
DES | P17661 | GOLGA6L9 | Homo sapiens | A6NEM1 | 32296183 | |
|
Intra
|
DES | P17661 | GOLGA6L9 | Homo sapiens | A6NEM1 | 32296183 | |
|
Intra
|
DES | P17661 | CT55 | Homo sapiens | Q8WUE5 | 32296183 | |
|
Intra
|
DES | P17661 | CT55 | Homo sapiens | Q8WUE5 | 32296183 | |
|
Intra
|
DES | P17661 | CT55 | Homo sapiens | Q8WUE5 | 32296183 | |
|
Intra
|
DES | P17661 | TCEA2 | Homo sapiens | Q15560 | 32296183 | |
|
Intra
|
DES | P17661 | LENG1 | Homo sapiens | Q96BZ8 | 32296183 | |
|
Intra
|
DES | P17661 | KRT15 | Homo sapiens | P19012 | 32296183 | |
|
Intra
|
DES | P17661 | KRT15 | Homo sapiens | P19012 | 32296183 | |
|
Intra
|
DES | P17661 | KRT15 | Homo sapiens | P19012 | 32296183 | |
|
Intra
|
DES | P17661 | KRT20 | Homo sapiens | P35900 | 32296183 | |
|
Intra
|
DES | P17661 | MLH1 | Homo sapiens | P40692 | 20706999 | |
|
Intra
|
DES | P17661 | MLH1 | Homo sapiens | P40692 | 20706999 | |
|
Intra
|
DES | P17661 | MLH1 | Homo sapiens | P40692 | 20706999 | |
|
Intra
|
DES | P17661 | MLH1 | Homo sapiens | P40692 | 20706999 | |
|
Intra
|
DES | P17661 | C1orf216 | Homo sapiens | Q8TAB5 | 32296183 | |
|
Intra
|
DES | P17661 | M1AP | Homo sapiens | Q8TC57 | 32296183 |
Recombinant DES Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70006 | Desmin/DES Protein, Human (His) | P17661 (V261-L470) | ≥ 90%, as determined by reducing SDS-PAGE. |
DES Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80103 | Desmin Antibody (YA477) | WB, ICC/IF, IHC-P, FC | Human, Mouse, Rat |
| HY-P84139 | Desmin Antibody (YA3836) | WB, IHC-P, FC, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P84139A | Desmin Antibody (YA3836)(PBS only) | WB, IHC-P, FC, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P85911 | Desmin Antibody (YA5603) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P86054 | Desmin Antibody (YA5746) | IHC-P, ELISA | Human, Mouse, Rat |
| HY-P86114 | Desmin Antibody (YA5806) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopathy, Myofibrillar, 1 |
|
|
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
|
| Cardiomyopathy, Dilated, 1i |
|
|
| Myofibrillar Myopathy |
|
|
| Dilated Cardiomyopathy |
|
|
| Cardiomyopathy, Dilated, 1e |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Progressive Familial Heart Block |
|
|
| Progressive Familial Heart Block, Type Ia |
|
|
| Lymphangioleiomyomatosis |
|
|
| Neuromuscular Disease |
|
|
| Mesenchymal Chondrosarcoma |
|
|
| Epithelioid Leiomyosarcoma |
|
|
| Adenosarcoma |
|
|
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
|
| Restrictive Cardiomyopathy |
|
|
| Dedifferentiated Liposarcoma |
|
|
| Fibromatosis |
|
|
| Glomus Tumor |
|
|
| Myopathy |
|
|
| Alveolar Soft Part Sarcoma |
|
|
| Leiomyosarcoma |
|
|
| Fibroma |
|
|
| Carcinosarcoma |
|
|
| Fibrous Histiocytoma |
|
|
| Embryonal Rhabdomyosarcoma |
|
|
| Granular Cell Tumor |
|
|
| Myopathy, Spheroid Body |
|
|
| Medullary Colon Carcinoma |
|
|
| Angiomyolipoma |
|
|
| Endometrial Stromal Sarcoma |
|
|
| Dermatofibrosarcoma Protuberans |
|
|
| Desmoplastic Small Round Cell Tumor |
|
|
| Miyoshi Muscular Dystrophy |
|
|
| Leiomyoma |
|
|
| Malignant Fibrous Histiocytoma |
|
|
| Infantile Myofibromatosis |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Liposarcoma |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Muscle Cancer |
|
|
| Angiolipoma |
|
|
| Uterus Leiomyosarcoma |
|
|
| Uterine Sarcoma |
|
|
| Pseudosarcomatous Fibromatosis |
|
|
| Smooth Muscle Tumor |
|
|
| Pleomorphic Adenoma |
|
|
| Spindle Cell Sarcoma |
|
|
| Atrioventricular Block |
|
|
| Hemangiopericytoma, Malignant |
|
|
| Centronuclear Myopathy |
|
|
| Rhabdomyosarcoma |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| Batten-Turner Congenital Myopathy |
|
|
| Cutaneous Fibrous Histiocytoma |
|
|
| Chordoma |
|
|
| Rhabdoid Cancer |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 7 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
|
|
| Rhabdomyosarcoma 2 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
|
|
| Fibrosarcoma |
|
|
| Pulmonary Blastoma |
|
|
| Syringoma |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
|
|
| Central Core Disease Of Muscle |
|
|
| Nephroma |
|
|
| Adenomatoid Tumor |
|
|
| Neuroleptic Malignant Syndrome |
|
|
| Muscular Dystrophy |
|
|
| Sertoli-Leydig Cell Tumor |
|
|
| Perineurioma |
|
|
| Myoepithelioma |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Immunodeficiency 48 |
|
|
| Leiomyomatosis |
|
|
| Echinostomiasis |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
|
| Benign Giant Cell Tumor |
|
|
| Lipomatosis, Multiple |
|
|
| Desmoid Tumor |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
|
| Neurilemmoma |
|
|
| Castleman Disease |
|
|
| Fasciitis |
|
|
| Atrial Standstill 1 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
|
|
| Coffin-Siris Syndrome 1 |
|
|
| Sarcoma, Synovial |
|
|
| Pneumothorax |
|
|
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
|
| Lipodystrophy, Familial Partial, Type 6 |
|
|
| Myopathy, Myofibrillar, 3 |
|
|
| Medulloblastoma |
|
|
| Achalasia |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Ewing Sarcoma |
|
|
| Cardiomyopathy, Dilated, 1h |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Constipation |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | DES | MGD | MGI:94885 |
| Canis familiaris | DES | VGNC | VGNC:39905 |
| Rattus norvegicus | DES | RGD | RGD:620686 |
| Bos taurus | DES | VGNC | VGNC:28013 |
| Macaca mulatta | DES | VGNC | VGNC:71770 |
| Felis catus | DES | VGNC | VGNC:61451 |
| Others | DES | NCBI |