Human Gene DES (ENST00000373960.4_4) from GENCODE V47lift37
  Description: desmin, transcript variant 1 (from RefSeq NM_001927.4)
Gencode Transcript: ENST00000373960.4_4
Gencode Gene: ENSG00000175084.13_8
Transcript (Including UTRs)
   Position: hg19 chr2:220,283,099-220,291,456 Size: 8,358 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr2:220,283,185-220,290,712 Size: 7,528 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:220,283,099-220,291,456)mRNA (may differ from genome)Protein (470 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q53SB5_HUMAN
DESCRIPTION: SubName: Full=Desmin, isoform CRA_a; SubName: Full=Putative uncharacterized protein tmp_locus_29;
SIMILARITY: Belongs to the intermediate filament family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DES
Diseases sorted by gene-association score: myopathy, myofibrillar, 1* (1691), scapuloperoneal syndrome, neurogenic, kaeser type* (1650), muscular dystrophy, limb-girdle, type 2r* (1300), cardiomyopathy, dilated, 1i* (829), myofibrillar myopathy* (248), muscular dystrophy, limb-girdle, type 1e* (247), dilated cardiomyopathy* (200), cardiomyopathy, dilated, 1e* (179), myh7-related dilated cardiomyopathy* (179), scn5a-associated dilated cardiomyopathy* (163), scn5a-related dilated cardiomyopathy* (163), des-related dilated cardiomyopathy* (100), familial isolated dilated cardiomyopathy* (73), epithelioid leiomyosarcoma (28), restrictive cardiomyopathy (21), muscle cancer (20), lymphangioleiomyomatosis (20), undifferentiated pleomorphic sarcoma (20), primitive neuroectodermal tumor of the cervix uteri (18), spindle cell lipoma (18), benign metastasizing leiomyoma (18), cutaneous fibrous histiocytoma (18), mesenchymal chondrosarcoma (18), extracardiac rhabdomyoma (18), gliomatosis peritonei (18), ischemic fasciitis (18), cytoplasmic body myopathy (18), giant cell myocarditis (18), spindle cell thymoma (18), ovarian benign neoplasm (18), gallbladder leiomyosarcoma (18), inflammatory leiomyosarcoma (17), cervical polyp (17), cardiomyopathy (17), desmoplastic small round cell tumor (16), infantile myofibromatosis (16), adenosarcoma (15), arrhythmogenic right ventricular cardiomyopathy (15), myopathy (14), glomus tumor (14), dedifferentiated liposarcoma (14), granular cell tumor (14), myopathy, spheroid body (14), ossifying fibromyxoid tumor (13), syringocystadenoma papilliferum (13), malignant fibrous histiocytoma of bone (13), infantile digital fibromatosis (13), chronic intestinal pseudoobstruction (13), doxorubicin induced cardiomyopathy (13), congenital epulis (13), intravenous leiomyomatosis (13), malignant mesenchymoma (13), ovarian fibrothecoma (13), malignant ectomesenchymoma (13), malignant triton tumor (12), angiolipoma (12), lymphangiomatosis (12), gallbladder sarcoma (12), leiomyosarcoma (12), embryonal rhabdomyosarcoma (12), alveolar soft-part sarcoma (12), fibromatosis (11), fibroma (11), botryoid rhabdomyosarcoma (11), spindle cell carcinoma (11), spindle cell rhabdomyosarcoma (11), medullomyoblastoma (11), mesenchymoma (10), epulis (10), congenital fibrosarcoma (10), fibroblastic rheumatism (10), central core disease (10), fibrous histiocytoma (10), leiomyoma (10), spindle cell sarcoma (10), gastrointestinal stromal tumor (10), dermatofibrosarcoma protuberans (9), inflammatory myofibroblastic tumor (9), horner's syndrome (9), angiomyolipoma (9), liposarcoma (9), skeletal muscle regeneration (9), myofibroma (9), biphasic synovial sarcoma (9), malignant mixed mullerian tumor (9), endometrial stromal sarcoma (8), hemangiopericytoma, malignant (8), pseudosarcomatous fibromatosis (8), extraskeletal ewing sarcoma (8), myxofibrosarcoma (8), glomangioma (8), ectomesenchymoma (8), cutaneous leiomyosarcoma (8), bilateral retinoblastoma (8), smooth muscle tumor (8), chordoma (7), cystic nephroma (7), parachordoma (7), juvenile xanthogranuloma (7), castleman disease (7), syringoma (7), reticulum cell sarcoma (7), pleuropulmonary blastoma (7), non-langerhans-cell histiocytosis (7), pulmonary vein stenosis (7), giant cell tumor (7), adenomatoid tumor (7), medulloepithelioma (7), perivascular epithelioid cell tumor (7), pulmonary blastoma (6), pleomorphic liposarcoma (6), plasmablastic lymphoma (6), neuromuscular disease (6), fasciitis (6), chondromyxoid fibroma (6), rhabdomyosarcoma 2, alveolar (6), lipomatosis, multiple (6), proximal spinal muscular atrophy (6), dupuytren contracture (6), cavernous hemangioma (6), rhabdoid cancer (6), uterine sarcoma (5), embryonal sarcoma (5), neurilemmoma (5), benign mesothelioma (5), rhabdomyosarcoma (4), muscular dystrophy (3), fibrosarcoma (3), ewing sarcoma (3), sarcoma, synovial (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6616.58 RPKM in Heart - Left Ventricle
Total median expression: 45546.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.0086-0.233 Picture PostScript Text
3' UTR -327.10744-0.440 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR006821 - Intermed_filament_DNA-bd
IPR018039 - Intermediate_filament_CS

Pfam Domains:
PF00038 - Intermediate filament protein
PF04732 - Intermediate filament head (DNA binding) region

SCOP Domains:
46579 - Prefoldin
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments
57959 - Leucine zipper domain
57997 - Tropomyosin
58100 - Bacterial hemolysins

ModBase Predicted Comparative 3D Structure on Q53SB5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005882 intermediate filament
GO:0005911 cell-cell junction
GO:0005916 fascia adherens
GO:0030018 Z disc
GO:0031594 neuromuscular junction
GO:0042383 sarcolemma
GO:0043292 contractile fiber
GO:0045111 intermediate filament cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK097038 - Homo sapiens cDNA FLJ39719 fis, clone SMINT2013890, highly similar to DESMIN.
BC032116 - Homo sapiens desmin, mRNA (cDNA clone MGC:29582 IMAGE:4905678), complete cds.
AK098332 - Homo sapiens cDNA FLJ41013 fis, clone UTERU2018609, highly similar to DESMIN.
AK300654 - Homo sapiens cDNA FLJ61414 complete cds, highly similar to Desmin.
AK123787 - Homo sapiens cDNA FLJ41793 fis, clone NESOP2002418, highly similar to DESMIN.
EF617312 - Homo sapiens mutant desmin mRNA, complete cds.
U59167 - Human desmin mRNA, complete cds.
BC010072 - Homo sapiens desmin, mRNA (cDNA clone IMAGE:4131519).
DQ895482 - Synthetic construct Homo sapiens clone IMAGE:100009942; FLH184830.01L; RZPDo839C05145D desmin (DES) gene, encodes complete protein.
DQ892282 - Synthetic construct clone IMAGE:100004912; FLH184834.01X; RZPDo839C05146D desmin (DES) gene, encodes complete protein.
CU689276 - Synthetic construct Homo sapiens gateway clone IMAGE:100023198 5' read DES mRNA.
KJ896699 - Synthetic construct Homo sapiens clone ccsbBroadEn_06093 DES gene, encodes complete protein.
JX114780 - Homo sapiens mutant desmin p.K241E (DES) mRNA, complete cds.
AF055081 - Homo sapiens family CSM1 mutant desmin mRNA, allele 1, complete cds.
AF055082 - Homo sapiens family CSM2 mutant desmin mRNA, allele 1, complete cds.
AF055083 - Homo sapiens family CSM2 mutant desmin mRNA, allele 2, complete cds.
AF137053 - Homo sapiens mutant desmin (MUTDESM) mRNA, MUTDESM-1 allele, complete cds.
AF167579 - Homo sapiens mutant desmin mRNA, complete cds.
AF486807 - Homo sapiens mutant desmin mRNA, complete cds.
AF487828 - Homo sapiens mutant desmin mRNA, complete cds.
AF521879 - Homo sapiens mutant desmin mRNA, complete cds.
AF527578 - Homo sapiens mutant desmin mRNA, complete cds.
AY083345 - Homo sapiens mutant desmin mRNA, complete cds.
AY125465 - Homo sapiens mutant desmin mRNA, complete cds.
DQ104335 - Homo sapiens mutant desmin mRNA, complete cds.
DQ104336 - Homo sapiens mutant desmin mRNA, complete cds.
DQ104337 - Homo sapiens mutant desmin mRNA, complete cds.
GQ900891 - Homo sapiens clone HEL-T-3 epididymis secretory sperm binding protein mRNA, complete cds.
AK022087 - Homo sapiens cDNA FLJ12025 fis, clone HEMBB1001802, highly similar to Human desmin mRNA.
JD172768 - Sequence 153792 from Patent EP1572962.
JD365786 - Sequence 346810 from Patent EP1572962.
JD136521 - Sequence 117545 from Patent EP1572962.
JD133728 - Sequence 114752 from Patent EP1572962.
JD191406 - Sequence 172430 from Patent EP1572962.
JD098322 - Sequence 79346 from Patent EP1572962.
CQ873764 - Sequence 183 from Patent WO2004076622.
DD413601 - Regulation of Mammalian Cells.
JD261127 - Sequence 242151 from Patent EP1572962.
JD054477 - Sequence 35501 from Patent EP1572962.
JD281498 - Sequence 262522 from Patent EP1572962.
JD532515 - Sequence 513539 from Patent EP1572962.
JD165350 - Sequence 146374 from Patent EP1572962.
JD274188 - Sequence 255212 from Patent EP1572962.
JD207274 - Sequence 188298 from Patent EP1572962.
JD252125 - Sequence 233149 from Patent EP1572962.
JD141168 - Sequence 122192 from Patent EP1572962.
JD543610 - Sequence 524634 from Patent EP1572962.
JD078140 - Sequence 59164 from Patent EP1572962.
JD389784 - Sequence 370808 from Patent EP1572962.
JD145842 - Sequence 126866 from Patent EP1572962.
JD310040 - Sequence 291064 from Patent EP1572962.
JD384336 - Sequence 365360 from Patent EP1572962.
JD104371 - Sequence 85395 from Patent EP1572962.
JD558172 - Sequence 539196 from Patent EP1572962.
JD495820 - Sequence 476844 from Patent EP1572962.
JD157860 - Sequence 138884 from Patent EP1572962.
JD440431 - Sequence 421455 from Patent EP1572962.
JD436273 - Sequence 417297 from Patent EP1572962.
JD178147 - Sequence 159171 from Patent EP1572962.
JD109031 - Sequence 90055 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A024R450, DES , ENST00000373960.1, ENST00000373960.2, ENST00000373960.3, hCG_14764 , NM_001927, Q53SB5, Q53SB5_HUMAN, tmp_locus_29 , uc318lew.1, uc318lew.2
UCSC ID: ENST00000373960.4_4
RefSeq Accession: NM_001927.4
Protein: Q53SB5

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DES:
arvd (Arrhythmogenic Right Ventricular Cardiomyopathy Overview)
dcm-ov (Dilated Cardiomyopathy Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.