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Homo sapiens myozenin 2 (MYOZ2), mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_016599 Homo sapiens myozenin 2 (MYOZ2), mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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RefSeq Version NM_016599.4, 343403769
Length 2604 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens myozenin 2 (MYOZ2), mRNA.
Product myozenin-2

Summary: The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011].

Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_057683.1
CDS 214..1008
Misc Feature(1)190..192
Misc Feature(2)214..942
Misc Feature(3)214..942
Exon (1)1..199
Gene Synonym:C4orf5; CMH16; CS-1
Exon (2)200..289
Gene Synonym:C4orf5; CMH16; CS-1
Exon (3)290..459
Gene Synonym:C4orf5; CMH16; CS-1
Exon (4)460..589
Gene Synonym:C4orf5; CMH16; CS-1
Exon (5)590..773
Gene Synonym:C4orf5; CMH16; CS-1
Exon (6)774..2597
Gene Synonym:C4orf5; CMH16; CS-1
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Position Chain Variation Link
127+a, gdbSNP:11559058
172+c, tdbSNP:146320826
204..205+, adbSNP:199872992
242+a, cdbSNP:76757102
252+a, gdbSNP:145688699
288+c, tdbSNP:201476980
304+c, gdbSNP:199750309
355+c, tdbSNP:199476398
359+a, gdbSNP:148908208
441+a, gdbSNP:192725921
450+a, g, tdbSNP:17851524
458+a, cdbSNP:149125238
515+a, c, tdbSNP:138061447
573+a, gdbSNP:117556704
616+c, tdbSNP:144720577
636+c, tdbSNP:148220911
652+c, tdbSNP:141181373
660+a, tdbSNP:200077093
672+a, gdbSNP:7687613
673+a, cdbSNP:200151576
677+c, tdbSNP:137878426
687+c, tdbSNP:201607789
692+c, tdbSNP:200791464
701+c, tdbSNP:143345726
736+a, gdbSNP:147532351
879+a, tdbSNP:201971682
887+c, tdbSNP:200428820
920+c, tdbSNP:13103807
951+a, gdbSNP:140126678
963+c, tdbSNP:17049982
1031+a, tdbSNP:145073797
1091+a, gdbSNP:193186153
1098+a, tdbSNP:147558994
1150+c, tdbSNP:112649595
1175+c, tdbSNP:79431637
1212+g, tdbSNP:111358691
1336+a, gdbSNP:62326345
1389+a, cdbSNP:75305592
1409+g, tdbSNP:185027625
1420+a, tdbSNP:80241242
1916+a, gdbSNP:62326346
1961+c, tdbSNP:140422232
2008+c, tdbSNP:189403154
2089+c, tdbSNP:181757333
2091+g, tdbSNP:77446319
2136+a, gdbSNP:112493072
2197+g, tdbSNP:184678595
2203+a, gdbSNP:149685770
2251+c, tdbSNP:188346318
2256+a, gdbSNP:9995277
2341+a, tdbSNP:180794735
2342+a, tdbSNP:186708500
2381+a, cdbSNP:75379799
2554+a, cdbSNP:28694026
Gene SymbolMYOZ2
Gene SynonymC4orf5; CMH16; CS-1
Locus Map4q26-q27
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_016599 Homo sapiens myozenin 2 (MYOZ2), mRNA. In-stock $348.00 $299.00 10
Title A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies .
Author von Nandelstadh,P., Ismail,M., Gardin,C., Suila,H., Zara,I., Belgrano,A., Valle,G., Carpen,O. and Faulkner,G.
Journal Mol. Cell. Biol. 29 (3), 822-834 (2009)
Title Candidate-gene testing for orphan limb-girdle muscular dystrophies .
Author Aurino,S., Piluso,G., Saccone,V., Cacciottolo,M., D'Amico,F., Dionisi,M., Totaro,A., Belsito,A., Di Vicino,U. and Nigro,V.
Journal Acta Myol 27, 90-97 (2008)
Title Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy .
Author Posch,M.G., Thiemann,L., Tomasov,P., Veselka,J., Cardim,N., Garcia-Castro,M., Coto,E., Perrot,A., Geier,C., Dietz,R., Haverkamp,W. and Ozcelik,C.
Journal Med. Sci. Monit. 14 (7), CR372-CR374 (2008)
Title Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy .
Author Posch,M.G., Perrot,A., Dietz,R., Ozcelik,C., Pankuweit,S., Ruppert,V., Richter,A. and Maisch,B.
Journal Mol. Genet. Metab. 91 (2), 207-208 (2007)
Title Major quantitative trait locus for resting heart rate maps to a region on chromosome 4 .
Author Martin,L.J., Comuzzie,A.G., Sonnenberg,G.E., Myklebust,J., James,R., Marks,J., Blangero,J. and Kissebah,A.H.
Journal Hypertension 43 (5), 1146-1151 (2004)
Title Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins .
Author Frey,N. and Olson,E.N.
Journal J. Biol. Chem. 277 (16), 13998-14004 (2002)
Title Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines .
Author Takada,F., Vander Woude,D.L., Tong,H.Q., Thompson,T.G., Watkins,S.C., Kunkel,L.M. and Beggs,A.H.
Journal Proc. Natl. Acad. Sci. U.S.A. 98 (4), 1595-1600 (2001)
Title Calsarcins, a novel family of sarcomeric calcineurin-binding proteins .
Author Frey,N., Richardson,J.A. and Olson,E.N.
Journal Proc. Natl. Acad. Sci. U.S.A. 97 (26), 14632-14637 (2000)
Title Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle .
Author Ahmad,F., Gonzalez,O., Ramagli,L., Xu,J., Siciliano,M.J., Bachinski,L.L. and Roberts,R.
Journal Genomics 70 (3), 347-353 (2000)
Title ZASP: a new Z-band alternatively spliced PDZ-motif protein .
Author Faulkner,G., Pallavicini,A., Formentin,E., Comelli,A., Ievolella,C., Trevisan,S., Bortoletto,G., Scannapieco,P., Salamon,M., Mouly,V., Valle,G. and Lanfranchi,G.
Journal J. Cell Biol. 146 (2), 465-475 (1999)

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