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DES cDNA ORF clone, Homo sapiens (human)

Gene Symbol DES
Entrez Gene ID 1674
Full Name desmin
Synonyms CSM1, CSM2, LGMD2R
General protein information
Preferred Names
desmin
Names
desmin
intermediate filament protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q35

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]. lac of sum
Disorder MIM:

125660

Disorder Html: Myopathy, desmin-related, cardioskeletal, 601419 (3);

mRNA and Protein(s)

mRNA Protein Name
NM_001927 NP_001918 desmin



Homo sapiens (human) DES NP_001918.3
Pan troglodytes (chimpanzee) DES XP_526039.2
Macaca mulatta (Rhesus monkey) DES XP_001104181.1
Canis lupus familiaris (dog) DES NP_001012394.1
Bos taurus (cattle) DES NP_001075044.1
Mus musculus (house mouse) Des NP_034173.1
Rattus norvegicus (Norway rat) Des NP_071976.1
Gallus gallus (chicken) DES XP_004942895.1
Xenopus (Silurana) tropicalis (western clawed frog) des.1 NP_989134.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following DES gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the DES cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu22932 NM_001927 Homo sapiens desmin (DES), mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $265.30
$379.00
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu22932
Clone ID Related Accession (Same CDS sequence) NM_001927
Accession Version NM_001927.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1413bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product desmin
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC032116.2, BQ941246.1, AL541778.3 and BC010072.2. This sequence is a reference standard in the RefSeqGene project. On Nov 15, 2004 this sequence version replaced gi:18105049. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC032116.2, U59167.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
ATGAGCCAGG CCTACTCGTC CAGCCAGCGC GTGTCCTCCT ACCGCCGCAC CTTCGGCGGG 
GCCCCGGGCT TCCCACTCGG CTCCCCGCTG AGTTCGCCCG TGTTCCCGCG GGCGGGTTTC
GGCTCTAAGG GCTCCTCCAG CTCGGTGACG TCCCGCGTGT ACCAGGTGTC GCGCACGTCG
GGCGGGGCCG GGGGCCTGGG GTCGCTGCGG GCCAGCCGGC TGGGGACCAC CCGCACGCCC
TCCTCCTACG GCGCAGGCGA GCTGCTGGAC TTCTCACTGG CCGACGCGGT GAACCAGGAG
TTTCTGACCA CGCGCACCAA CGAGAAGGTG GAGCTGCAGG AGCTCAATGA CCGCTTCGCC
AACTACATCG AGAAGGTGCG CTTCCTGGAG CAGCAGAACG CGGCGCTCGC CGCCGAAGTG
AACCGGCTCA AGGGCCGCGA GCCGACGCGA GTGGCCGAGC TCTACGAGGA GGAGCTGCGG
GAGCTGCGGC GCCAGGTGGA GGTGCTCACT AACCAGCGCG CGCGCGTCGA CGTCGAGCGC
GACAACCTGC TCGACGACCT GCAGCGGCTC AAGGCCAAGC TGCAGGAGGA GATTCAGTTG
AAGGAAGAAG CAGAGAACAA TTTGGCTGCC TTCCGAGCGG ACGTGGATGC AGCTACTCTA
GCTCGCATTG ACCTGGAGCG CAGAATTGAA TCTCTCAACG AGGAGATCGC GTTCCTTAAG
AAAGTGCATG AAGAGGAGAT CCGTGAGTTG CAGGCTCAGC TTCAGGAACA GCAGGTCCAG
GTGGAGATGG ACATGTCTAA GCCAGACCTC ACTGCCGCCC TCAGGGACAT CCGGGCTCAG
TATGAGACCA TCGCGGCTAA GAACATTTCT GAAGCTGAGG AGTGGTACAA GTCGAAGGTG
TCAGACCTGA CCCAGGCAGC CAACAAGAAC AACGACGCCC TGCGCCAGGC CAAGCAGGAG
ATGATGGAAT ACCGACACCA GATCCAGTCC TACACCTGCG AGATTGACGC CCTGAAGGGC
ACTAACGATT CCCTGATGAG GCAGATGCGG GAATTGGAGG ACCGATTTGC CAGTGAGGCC
AGTGGCTACC AGGACAACAT TGCGCGCCTG GAGGAGGAAA TCCGGCACCT CAAGGATGAG
ATGGCCCGCC ATCTGCGCGA GTACCAGGAC CTGCTCAACG TGAAGATGGC CCTGGATGTG
GAGATTGCCA CCTACCGGAA GCTGCTGGAG GGAGAGGAGA GCCGGATCAA TCTCCCCATC
CAGACCTACT CTGCCCTCAA CTTCCGAGAA ACCAGCCCTG AGCAAAGGGG TTCTGAGGTC
CATACCAAGA AGACGGTGAT GATCAAGACC ATCGAGACAC GGGATGGGGA GGTCGTCAGT
GAGGCCACAC AGCAGCAGCA TGAAGTGCTC TAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001918.3
CDS87..1499
Misc Feature(1)87..407(+)
Misc Feature(2)111..404(+)
Misc Feature(3)120..122(+)
Misc Feature(4)120..122(+)
Misc Feature(5)135..137(+)
Misc Feature(6)135..137(+)
Misc Feature(7)264..266(+)
Misc Feature(8)264..266(+)
Misc Feature(9)312..314(+)
Misc Feature(10)315..317(+)
Misc Feature(11)405..1331(+)
Misc Feature(12)408..1319(+)
Misc Feature(13)1320..1493(+)
Exon (1)1..664
Gene:DES
Gene Synonym:
Exon (2)665..725
Gene:DES
Gene Synonym:
Exon (3)726..821
Gene:DES
Gene Synonym:
Exon (4)822..983
Gene:DES
Gene Synonym:
Exon (5)984..1109
Gene:DES
Gene Synonym:
Exon (6)1110..1330
Gene:DES
Gene Synonym:
Exon (7)1331..1374
Gene:DES
Gene Synonym:
Exon (8)1375..1457
Gene:DES
Gene Synonym:
Exon (9)1458..2248
Gene:DES
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001927
Organism Homo sapiens (human)
Definition Homo sapiens desmin (DES), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001927

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
ATGAGCCAGG CCTACTCGTC CAGCCAGCGC GTGTCCTCCT ACCGCCGCAC CTTCGGCGGG 
GCCCCGGGCT TCCCACTCGG CTCCCCGCTG AGTTCGCCCG TGTTCCCGCG GGCGGGTTTC
GGCTCTAAGG GCTCCTCCAG CTCGGTGACG TCCCGCGTGT ACCAGGTGTC GCGCACGTCG
GGCGGGGCCG GGGGCCTGGG GTCGCTGCGG GCCAGCCGGC TGGGGACCAC CCGCACGCCC
TCCTCCTACG GCGCAGGCGA GCTGCTGGAC TTCTCACTGG CCGACGCGGT GAACCAGGAG
TTTCTGACCA CGCGCACCAA CGAGAAGGTG GAGCTGCAGG AGCTCAATGA CCGCTTCGCC
AACTACATCG AGAAGGTGCG CTTCCTGGAG CAGCAGAACG CGGCGCTCGC CGCCGAAGTG
AACCGGCTCA AGGGCCGCGA GCCGACGCGA GTGGCCGAGC TCTACGAGGA GGAGCTGCGG
GAGCTGCGGC GCCAGGTGGA GGTGCTCACT AACCAGCGCG CGCGCGTCGA CGTCGAGCGC
GACAACCTGC TCGACGACCT GCAGCGGCTC AAGGCCAAGC TGCAGGAGGA GATTCAGTTG
AAGGAAGAAG CAGAGAACAA TTTGGCTGCC TTCCGAGCGG ACGTGGATGC AGCTACTCTA
GCTCGCATTG ACCTGGAGCG CAGAATTGAA TCTCTCAACG AGGAGATCGC GTTCCTTAAG
AAAGTGCATG AAGAGGAGAT CCGTGAGTTG CAGGCTCAGC TTCAGGAACA GCAGGTCCAG
GTGGAGATGG ACATGTCTAA GCCAGACCTC ACTGCCGCCC TCAGGGACAT CCGGGCTCAG
TATGAGACCA TCGCGGCTAA GAACATTTCT GAAGCTGAGG AGTGGTACAA GTCGAAGGTG
TCAGACCTGA CCCAGGCAGC CAACAAGAAC AACGACGCCC TGCGCCAGGC CAAGCAGGAG
ATGATGGAAT ACCGACACCA GATCCAGTCC TACACCTGCG AGATTGACGC CCTGAAGGGC
ACTAACGATT CCCTGATGAG GCAGATGCGG GAATTGGAGG ACCGATTTGC CAGTGAGGCC
AGTGGCTACC AGGACAACAT TGCGCGCCTG GAGGAGGAAA TCCGGCACCT CAAGGATGAG
ATGGCCCGCC ATCTGCGCGA GTACCAGGAC CTGCTCAACG TGAAGATGGC CCTGGATGTG
GAGATTGCCA CCTACCGGAA GCTGCTGGAG GGAGAGGAGA GCCGGATCAA TCTCCCCATC
CAGACCTACT CTGCCCTCAA CTTCCGAGAA ACCAGCCCTG AGCAAAGGGG TTCTGAGGTC
CATACCAAGA AGACGGTGAT GATCAAGACC ATCGAGACAC GGGATGGGGA GGTCGTCAGT
GAGGCCACAC AGCAGCAGCA TGAAGTGCTC TAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease
Neurol India 61 (6), 622-626 (2013)
Nalini A, Gayathri N, Richard P, Cobo AM and Urtizberea JA.


book

Pilot study identifying myosin heavy chain 7, desmin, insulin-like growth factor 7, and annexin A2 as circulating biomarkers of human heart failure
Proteomics 13 (15), 2324-2334 (2013)
Chugh S, Ouzounian M, Lu Z, Mohamed S, Li W, Bousette N, Liu PP and Gramolini AO.


book

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
J. Med. Genet. 50 (7), 437-443 (2013)
Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S and Dincer P.


book

Nebulin binding impedes mutant desmin filament assembly
Mol. Biol. Cell 24 (12), 1918-1932 (2013)
Baker LK, Gillis DC, Sharma S, Ambrus A, Herrmann H and Conover GM.


book

Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle
Hum. Pathol. 26 (9), 1032-1037 (1995)
Ariza A, Coll J, Fernandez-Figueras MT, Lopez MD, Mate JL, Garcia O, Fernandez-Vasalo A and Navas-Palacios JJ.


book

Myofibrillar Myopathy
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Selcen,D. and Engel,A.G.


book

Dilated Cardiomyopathy Overview
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Hershberger,R.E. and Morales,A.


book

Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization
Hum. Genet. 83 (1), 33-36 (1989)
Viegas-Pequignot E, Li ZL, Dutrillaux B, Apiou F and Paulin D.


book

Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development
Gene 78 (2), 243-254 (1989)
Li ZL, Lilienbaum A, Butler-Browne G and Paulin D.


book

Association of spectrin with desmin intermediate filaments
J. Cell. Biochem. 30 (2), 101-109 (1986)
Langley,R.C. Jr. and Cohen,C.M.


 
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