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Homo sapiens desmin (DES), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001927 Homo sapiens desmin (DES), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_001927.3, 55749931
Length 2268 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens desmin (DES), mRNA.
Product desmin
Comment

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].

RefSeq NP_001918.3
CDS 87..1499
Misc Feature(1)87..407
Misc Feature(2)87..407
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..404
Misc Feature(11)315..317
Misc Feature(12)405..1331
Misc Feature(13)408..1319
Misc Feature(14)1320..1493
Exon (1)1..664
Gene:DES
Gene Synonym:CSM1; CSM2
Exon (2)665..725
Gene:DES
Gene Synonym:CSM1; CSM2
Exon (3)726..821
Gene:DES
Gene Synonym:CSM1; CSM2
Exon (4)822..983
Gene:DES
Gene Synonym:CSM1; CSM2
Exon (5)984..1109
Gene:DES
Gene Synonym:CSM1; CSM2
Exon (6)1110..1330
Gene:DES
Gene Synonym:CSM1; CSM2
Exon (7)1331..1374
Gene:DES
Gene Synonym:CSM1; CSM2
Exon (8)1375..1457
Gene:DES
Gene Synonym:CSM1; CSM2
Exon (9)1458..2248
Gene:DES
Gene Synonym:CSM1; CSM2
Translation MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTS GGAGGLGSLRASRLGTTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFA NYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKV SDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPI QTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL
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Position Chain Variation Link
14+dbSNP:
14+, gdbSNP:35731749
43+a, gdbSNP:184826121
91+g, tdbSNP:58999456
104+a, gdbSNP:199972656
121+c, tdbSNP:267607495
124+c, tdbSNP:62636495
132+c, tdbSNP:60798368
146+c, gdbSNP:1058253
149+c, tdbSNP:201458068
154+g, tdbSNP:3903257
161+a, gdbSNP:1318299
179+c, tdbSNP:2017800
223+a, c, tdbSNP:60794845
225+a, gdbSNP:79060489
269+a, cdbSNP:2854887
329+c, tdbSNP:201594392
336+a, gdbSNP:200545412
372+g, tdbSNP:201190593
408+a, gdbSNP:62636490
410+a, gdbSNP:138677215
424..425+, agdbSNP:267607497
426..428+, gagdbSNP:267607493
433+a, gdbSNP:267607499
455+c, gdbSNP:2666105
458+a, gdbSNP:34365369
494+c, tdbSNP:111828114
603..623+, cgcgcgcgcgtcgacgtcgagdbSNP:60538473
721+dbSNP:
721+a, gdbSNP:144261171
724+c, tdbSNP:41272699
729+dbSNP:
729+a, gdbSNP:144908941
742+c, tdbSNP:144901249
755+c, tdbSNP:75882680
766+a, gdbSNP:141486420
767+c, tdbSNP:113288175
776+a, gdbSNP:142145822
806..807+, adbSNP:57659464
807+a, gdbSNP:201945924
821+c, gdbSNP:267607486
822+dbSNP:
822+a, gdbSNP:144057476
825..826+, adbSNP:35419667
871+a, tdbSNP:147327878
878+c, tdbSNP:150370918
907+c, g, tdbSNP:267607494
914+c, tdbSNP:1058261
941+a, gdbSNP:139818514
971+a, gdbSNP:146755676
979+c, tdbSNP:62636491
1020+dbSNP:
1020+a, gdbSNP:34337334
1021+a, cdbSNP:148947510
1079+c, tdbSNP:200858541
1095+c, gdbSNP:59962885
1099+g, tdbSNP:57496341
1100+c, gdbSNP:12920
1110+dbSNP:
1110+a, gdbSNP:267607482
1112+c, tdbSNP:61731508
1120+c, tdbSNP:57639980
1134+c, tdbSNP:62636492
1135+c, gdbSNP:57965306
1150+c, gdbSNP:61368398
1155+c, gdbSNP:58898021
1161..1169+, gaggccagtdbSNP:58409037
1164+c, gdbSNP:121913000
1165+c, tdbSNP:141592925
1182..1184+, aacdbSNP:58687088
1185+a, tdbSNP:62636494
1190+a, gdbSNP:1058284
1195+c, tdbSNP:59308628
1212+c, tdbSNP:57404866
1219+a, cdbSNP:202010947
1240+c, tdbSNP:57955682
1252+a, cdbSNP:121913004
1261+c, tdbSNP:62636493
1264+a, tdbSNP:121913001
1281+g, tdbSNP:61130669
1287+a, gdbSNP:57694264
1295+c, tdbSNP:200054661
1302+c, tdbSNP:121913003
1313+a, gdbSNP:143954788
1323+a, gdbSNP:61726467
1341+dbSNP:
1341+c, tdbSNP:62635763
1343+c, tdbSNP:143154982
1366+a, gdbSNP:142712150
1367+c, tdbSNP:17853018
1371+c, tdbSNP:150974575
1372+a, gdbSNP:200580581
1411+dbSNP:
1411+c, tdbSNP:121913005
1419+a, gdbSNP:267607498
1420+c, tdbSNP:147803084
1432+a, cdbSNP:267607485
1439+c, g, tdbSNP:121913002
1444+c, tdbSNP:267607488
1446+c, tdbSNP:267607490
1456+a, tdbSNP:267607496
1461+dbSNP:
1461+a, gdbSNP:73991549
1465+g, tdbSNP:267607491
1472+c, gdbSNP:1135931
1491+a, gdbSNP:267607487
1807+a, cdbSNP:140222667
1842+c, tdbSNP:1058616
1860+c, tdbSNP:150319065
1942+a, tdbSNP:1058876
1967+g, tdbSNP:73085265
1974+g, tdbSNP:138913201
2161+a, gdbSNP:116635264
2169+a, cdbSNP:13012557
2180+a, cdbSNP:113832558
2183+c, tdbSNP:181219659
2193+c, tdbSNP:2859788
2242+a, gdbSNP:111793338
Gene SymbolDES
Gene SynonymCSM1; CSM2
Chromosome2
Locus Map2q35
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001927 Homo sapiens desmin (DES), mRNA. On-demand TBD TBD
Title Desmin mutations and arrhythmogenic right ventricular cardiomyopathy .
Author Lorenzon,A., Beffagna,G., Bauce,B., De Bortoli,M., Li Mura,I.E., Calore,M., Dazzo,E., Basso,C., Nava,A., Thiene,G. and Rampazzo,A.
Journal Am. J. Cardiol. 111 (3), 400-405 (2013)
Title A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy .
Author Cao,L., Hong,D., Zhu,M., Li,X., Wan,H. and Hong,K.
Journal Clin. Neuropathol. 32 (1), 9-15 (2013)
Title Desmin and CD34 positivity in cellular fibrous histiocytoma: an immunohistochemical analysis of 100 cases .
Author Volpicelli,E.R. and Fletcher,C.D.
Journal J. Cutan. Pathol. 39 (8), 747-752 (2012)
Title Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants .
Author Brodehl,A., Hedde,P.N., Dieding,M., Fatima,A., Walhorn,V., Gayda,S., Saric,T., Klauke,B., Gummert,J., Anselmetti,D., Heilemann,M., Nienhaus,G.U. and Milting,H.
Journal J. Biol. Chem. 287 (19), 16047-16057 (2012)
Title The diagnostic utility of D2-40, calretinin, CK5/6, desmin and MOC-31 in the differentiation of mesothelioma from adenocarcinoma in pleural effusion cytology .
Author Hyun,T.S., Barnes,M. and Tabatabai,Z.L.
Journal Acta Cytol. 56 (5), 527-532 (2012)
Title Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle .
Author Ariza,A., Coll,J., Fernandez-Figueras,M.T., Lopez,M.D., Mate,J.L., Garcia,O., Fernandez-Vasalo,A. and Navas-Palacios,J.J.
Journal Hum. Pathol. 26 (9), 1032-1037 (1995)
Title Myofibrillogenesis in primary tissue cultures of adult human skeletal muscle: expression of desmin, titin, and nebulin .
Author Behr,T., Fischer,P., Muller-Felber,W., Schmidt-Achert,M. and Pongratz,D.
Journal Clin Investig 72 (2), 150-155 (1994)
Title Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization .
Author Viegas-Pequignot,E., Li,Z.L., Dutrillaux,B., Apiou,F. and Paulin,D.
Journal Hum. Genet. 83 (1), 33-36 (1989)
Title Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development .
Author Li,Z.L., Lilienbaum,A., Butler-Browne,G. and Paulin,D.
Journal Gene 78 (2), 243-254 (1989)
Title Association of spectrin with desmin intermediate filaments .
Author Langley,R.C. Jr. and Cohen,C.M.
Journal J. Cell. Biochem. 30 (2), 101-109 (1986)


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