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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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

*Business Day

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RefSeq Version NM_016599.4, 343403769
Length 2604 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens myozenin 2 (MYOZ2), mRNA.
Product myozenin-2
Comment

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..1005
Misc Feature(3)214..1005
Exon (1)1..199
Gene:MYOZ2
Gene Synonym:C4orf5; CMH16; CS-1
Exon (2)200..289
Gene:MYOZ2
Gene Synonym:C4orf5; CMH16; CS-1
Exon (3)290..459
Gene:MYOZ2
Gene Synonym:C4orf5; CMH16; CS-1
Exon (4)460..589
Gene:MYOZ2
Gene Synonym:C4orf5; CMH16; CS-1
Exon (5)590..773
Gene:MYOZ2
Gene Synonym:C4orf5; CMH16; CS-1
Exon (6)774..2597
Gene:MYOZ2
Gene Synonym:C4orf5; CMH16; CS-1
Translation MLSHNTMMKQRKQQATAIMKEVHGNDVDGMDLGKKVSIPRDIMLEELSHLSNRGARLFKM RQRRSDKYTFENFQYQSRAQINHSIAMQNGKVDGSNLEGGSQQAPLTPPNTPDPRSPPNP DNIAPGYSGPLKEIPPEKFNTTAVPKYYQSPWEQAISNDPELLEALYPKLFKPEGKAELP DYRSFNRVATPFGGFEKASRMVKFKVPDFELLLLTDPRFMSFVNPLSGRRSFNRTPKGWI SENIPIVITTEPTDDTTVPESEDL
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Position Chain Variation Link
95+dbSNP:
95+a, cdbSNP:367558882
127+a, gdbSNP:11559058
complement(172)-t, cdbSNP:146320826
204..205+dbSNP:
204..205+, adbSNP:199872992
211..212+, adbSNP:397517288
211+a, gdbSNP:372377840
214+a, tdbSNP:368392953
219+a, gdbSNP:372337360
224+a, tdbSNP:376901669
230+c, gdbSNP:397517289
242+a, c, gdbSNP:76757102
242+g, tdbSNP:386451755
252+a, gdbSNP:145688699
288+c, tdbSNP:201476980
297+dbSNP:
297+c, tdbSNP:397517292
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+dbSNP:
515+a, c, tdbSNP:138061447
543+c, tdbSNP:370237979
556+c, tdbSNP:374655743
573+a, gdbSNP:117556704
616+dbSNP:
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+dbSNP:
879+a, tdbSNP:201971682
887+c, tdbSNP:200428820
901+c, tdbSNP:372215131
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
1154+c, gdbSNP:371220462
1175+c, tdbSNP:79431637
1212+g, tdbSNP:111358691
1336+a, gdbSNP:62326345
1368+c, tdbSNP:369982464
1389+a, cdbSNP:75305592
1409+g, tdbSNP:185027625
1420+a, tdbSNP:80241242
1741..1744+, attgdbSNP:368565031
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
2262..2263+, adbSNP:372794743
2341+a, tdbSNP:180794735
2342+a, tdbSNP:186708500
2381+a, cdbSNP:75379799
2554+a, cdbSNP:28694026
Gene SymbolMYOZ2
Gene SynonymC4orf5; CMH16; CS-1
Chromosome4
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
XM_006714234 PREDICTED: Homo sapiens myozenin 2 (MYOZ2), transcript variant X1, mRNA. On-demand $399.00 14
Title Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity .
Author Ruggiero A, Chen SN, Lombardi R, Rodriguez G and Marian AJ.
Journal Cardiovasc. Res. 97 (1), 44-54 (2013)
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 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 Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins .
Author Frey N and Olson EN.
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 DL, Tong HQ, Thompson TG, Watkins SC, Kunkel
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 JA and Olson EN.
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 MJ, Bachinski LL 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
Journal J. Cell Biol. 146 (2), 465-475 (1999)
Title Hypertrophic Cardiomyopathy Overview .
Author Cirino,A.L. and Ho,C.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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