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Homo sapiens titin-cap (TCAP), mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003673 Homo sapiens titin-cap (TCAP), mRNA. GenEZ ORF Cloning On-demand $399.00 14

*Business Day

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RefSeq Version NM_003673.3, 209862803
Length 963 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens titin-cap (TCAP), mRNA.
Product telethonin

Summary: Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008].

RefSeq NP_003664.1
CDS 15..518
Misc Feature(1)3..5
Misc Feature(2)3..5
Misc Feature(3)15..515
Misc Feature(4)15..515
Misc Feature(5)483..485
Misc Feature(6)483..485
Exon (1)1..124
Gene Synonym:CMD1N; LGMD2G; T-cap; TELE; telethonin
Exon (2)125..963
Gene Synonym:CMD1N; LGMD2G; T-cap; TELE; telethonin
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Position Chain Variation Link
3+a, c, tdbSNP:77831798
30+a, cdbSNP:201664428
46+c, tdbSNP:45495192
67+a, gdbSNP:45614536
74+c, gdbSNP:146502276
80+a, gdbSNP:141019458
101+a, c, gdbSNP:144741021
111+c, tdbSNP:145524909
159+a, gdbSNP:45513698
171+c, tdbSNP:104894655
205+c, tdbSNP:45458802
226+c, tdbSNP:143465226
235+a, tdbSNP:17851031
274+a, gdbSNP:121434298
290+c, tdbSNP:147979713
291+g, tdbSNP:76130885
293+c, tdbSNP:144149447
314+c, tdbSNP:187261074
327+c, gdbSNP:146906267
330+c, tdbSNP:45578741
367+c, tdbSNP:143233087
403+a, gdbSNP:147503632
435+c, gdbSNP:45509691
461+c, tdbSNP:45614332
467+a, cdbSNP:1053651
472+a, gdbSNP:149585781
534+a, gdbSNP:45495400
540+c, tdbSNP:200333339
572+a, gdbSNP:45592941
594+g, tdbSNP:45506294
717+g, tdbSNP:45503594
810+a, gdbSNP:185210946
823+a, gdbSNP:45521334
876+a, gdbSNP:188530675
895+a, c, gdbSNP:3194794
913+c, tdbSNP:45540732
936+c, tdbSNP:45500896
954..955+, atdbSNP:45459794
Gene SymbolTCAP
Gene SynonymCMD1N; LGMD2G; T-cap; TELE; telethonin
Locus Map17q12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003673 Homo sapiens titin-cap (TCAP), mRNA. On-demand $399.00 14
Title A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients .
Author Waddell,L.B., Tran,J., Zheng,X.F., Bonnemann,C.G., Hu,Y., Evesson,F.J., Lek,M., Arbuckle,S., Wang,M.X., Smith,R.L., North,K.N. and Clarke,N.F.
Journal Neuromuscul. Disord. 21 (11), 776-781 (2011)
Title Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? .
Author Ruano,G., Thompson,P.D., Kane,J.P., Pullinger,C.R., Windemuth,A., Seip,R.L., Kocherla,M., Holford,T.R. and Wu,A.H.
Journal Pharmacogenomics 11 (7), 959-971 (2010)
Title Decreased myocardial expression of dystrophin and titin mRNA and protein in dilated cardiomyopathy: possibly an adverse effect of TNF-alpha .
Author Ahmad,S., Rai,T.S., Khullar,M., Bahl,A., Saikia,U.N., Thungapathra,M., Kumar,R.M., Mahajan,R. and Talwar,K.K.
Journal J. Clin. Immunol. 30 (4), 520-530 (2010)
Title A novel custom resequencing array for dilated cardiomyopathy .
Author Zimmerman,R.S., Cox,S., Lakdawala,N.K., Cirino,A., Mancini-DiNardo,D., Clark,E., Leon,A., Duffy,E., White,E., Baxter,S., Alaamery,M., Farwell,L., Weiss,S., Seidman,C.E., Seidman,J.G., Ho,C.Y., Rehm,H.L. and Funke,B.H.
Journal Genet. Med. 12 (5), 268-278 (2010)
Title Common susceptibility variants examined for association with dilated cardiomyopathy .
Author Rampersaud,E., Kinnamon,D.D., Hamilton,K., Khuri,S., Hershberger,R.E. and Martin,E.R.
Journal Ann. Hum. Genet. 74 (2), 110-116 (2010)
Title The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity .
Author Gregorio,C.C., Trombitas,K., Centner,T., Kolmerer,B., Stier,G., Kunke,K., Suzuki,K., Obermayr,F., Herrmann,B., Granzier,H., Sorimachi,H. and Labeit,S.
Journal J. Cell Biol. 143 (4), 1013-1027 (1998)
Title Structural basis for activation of the titin kinase domain during myofibrillogenesis .
Author Mayans,O., van der Ven,P.F., Wilm,M., Mues,A., Young,P., Furst,D.O., Wilmanns,M. and Gautel,M.
Journal Nature 395 (6705), 863-869 (1998)
Title Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin .
Author Mues,A., van der Ven,P.F., Young,P., Furst,D.O. and Gautel,M.
Journal FEBS Lett. 428 (1-2), 111-114 (1998)
Title Telethonin, a novel sarcomeric protein of heart and skeletal muscle .
Author Valle,G., Faulkner,G., De Antoni,A., Pacchioni,B., Pallavicini,A., Pandolfo,D., Tiso,N., Toppo,S., Trevisan,S. and Lanfranchi,G.
Journal FEBS Lett. 415 (2), 163-168 (1997)
Title The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12 .
Author Moreira,E.S., Vainzof,M., Marie,S.K., Sertie,A.L., Zatz,M. and Passos-Bueno,M.R.
Journal Am. J. Hum. Genet. 61 (1), 151-159 (1997)

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