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Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001234 Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

*Business Day

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RefSeq Version NM_001234.4, 356582412
Length 1339 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.
Product caveolin-3

Summary: This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008].

Transcript Variant: This variant (2) is shorter than variant 1, since it lacks a differentially spliced intron located in the 3' UTR, but both transcripts encode identical proteins.

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_001225.1
CDS 78..533
Misc Feature(1)81..527
Misc Feature(2)81..527
Misc Feature(3)267..419
Exon (1)1..191
Gene Synonym:LGMD1C; LQT9; VIP-21; VIP21
Exon (2)192..539
Gene Synonym:LGMD1C; LQT9; VIP-21; VIP21
Exon (3)540..1335
Gene Synonym:LGMD1C; LQT9; VIP-21; VIP21
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Position Chain Variation Link
30+c, tdbSNP:201062505
31+c, tdbSNP:374841789
32+a, gdbSNP:368151958
41+a, gdbSNP:116840771
45+g, tdbSNP:72546666
68+a, cdbSNP:374409322
71+a, cdbSNP:368328885
77+a, gdbSNP:74377241
82+c, tdbSNP:375301072
90..91+, gdbSNP:199476323
104+c, tdbSNP:1974763
105+a, gdbSNP:139786391
110+c, tdbSNP:369206230
116+c, tdbSNP:200562715
117+a, c, gdbSNP:121909281
156+c, gdbSNP:199476324
157+a, c, gdbSNP:116840778
161+a, cdbSNP:116840782
162+a, cdbSNP:116840785
163+a, c, tdbSNP:116840786
176+c, g, tdbSNP:1008642
177+a, gdbSNP:199476325
186+c, gdbSNP:374523166
200+c, tdbSNP:13087941
202+a, cdbSNP:137901165
206+c, tdbSNP:374584030
208+a, tdbSNP:116840788
209+c, gdbSNP:372754279
212+c, tdbSNP:115593543
213+a, g, tdbSNP:116840789
214+a, c, tdbSNP:116840773
216+a, gdbSNP:116840793
217+a, cdbSNP:199476327
218+g, tdbSNP:199476328
221+c, tdbSNP:149287333
230+c, gdbSNP:375087776
234+a, gdbSNP:116840794
235+a, gdbSNP:199476326
243+a, gdbSNP:72546667
245+a, cdbSNP:116840774
246+a, gdbSNP:116840795
247+g, tdbSNP:199476329
248+a, gdbSNP:61147808
249+c, tdbSNP:199476330
260+a, cdbSNP:116840796
263..271+, caccaccttdbSNP:116840800
264+a, cdbSNP:116840798
265+c, gdbSNP:116840799
266..274+, caccttcacdbSNP:199476331
267+a, cdbSNP:199476332
268+c, gdbSNP:121909280
278+a, cdbSNP:201593267
281+a, cdbSNP:116840775
289+a, gdbSNP:199476333
291+a, tdbSNP:112915664
293+c, gdbSNP:116840776
295+a, gdbSNP:199476334
298+a, gdbSNP:201893621
310+a, c, tdbSNP:72546668
311+a, gdbSNP:148846096
313+g, tdbSNP:121909282
321+a, gdbSNP:112626848
324+c, tdbSNP:137881434
330+a, gdbSNP:104893715
334+c, tdbSNP:116840801
337+c, tdbSNP:28936685
342+a, gdbSNP:376624103
350+a, gdbSNP:368976665
353+c, tdbSNP:72546669
354+a, g, tdbSNP:28936686
367..370+, tctgdbSNP:116840802
367..369+, tctdbSNP:199476335
367+g, tdbSNP:104893714
371+a, cdbSNP:200202503
374+c, tdbSNP:377495315
375+a, tdbSNP:199476336
378+c, tdbSNP:199476337
383+a, gdbSNP:149375325
384..389+, gtggtgdbSNP:199476338
391+c, tdbSNP:116840805
413+c, tdbSNP:139985460
446+c, gdbSNP:202101572
454+a, gdbSNP:116840777
478+c, tdbSNP:201267913
494+c, tdbSNP:147250678
500+c, gdbSNP:104893713
510+a, gdbSNP:142475018
520+a, gdbSNP:140575619
521+a, gdbSNP:376749605
553+c, gdbSNP:72546664
597+c, tdbSNP:191758422
713+c, tdbSNP:77367257
714+a, gdbSNP:184247243
776+c, tdbSNP:190266441
933+a, gdbSNP:181870481
980+c, tdbSNP:13093809
complement(1005)-t, cdbSNP:142492213
1029+a, gdbSNP:187370461
1035+c, gdbSNP:190490095
1082+a, tdbSNP:11476
1177+c, gdbSNP:1052354
1194+a, cdbSNP:180801204
1200+a, gdbSNP:185369734
1214+c, gdbSNP:190133010
1220+a, gdbSNP:7629329
1225+a, cdbSNP:181285740
1242+a, cdbSNP:186579720
complement(1248)-, gdbSNP:66667169
1248+c, gdbSNP:10882
Gene SymbolCAV3
Gene SynonymLGMD1C; LQT9; VIP-21; VIP21
Locus Map3p25
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001234 Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. In-stock $248.00 $199.00 10
NM_033337 Homo sapiens caveolin 3 (CAV3), transcript variant 1, mRNA. In-stock $248.00 $199.00 10
Title Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data .
Author Andreasen C, Refsgaard L, Nielsen JB, Sajadieh A, Winkel BG, Tfelt-Hansen J, Haunso S, Holst AG, Svendsen JH and Olesen MS.
Journal Can J Cardiol 29 (9), 1104-1109 (2013)
Title Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A .
Author Cheng J, Valdivia CR, Vaidyanathan R, Balijepalli RC, Ackerman MJ and Makielski JC.
Journal J. Mol. Cell. Cardiol. 61, 102-110 (2013)
Title The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9) .
Author Vaidyanathan R, Vega AL, Song C, Zhou Q, Tan BH, Berger S, Makielski JC and Eckhardt LL.
Journal J. Biol. Chem. 288 (24), 17472-17480 (2013)
Title Molecular and functional evidence of HCN4 and caveolin-3 interaction during cardiomyocyte differentiation from human embryonic stem cells .
Author Bosman A, Sartiani L, Spinelli V, Del Lungo M, Stillitano F, Nosi D, Mugelli A, Cerbai E and Jaconi M.
Journal Stem Cells Dev. 22 (11), 1717-1727 (2013)
Title Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain .
Author Venema VJ, Ju H, Zou R and Venema RC.
Journal J. Biol. Chem. 272 (45), 28187-28190 (1997)
Title Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites .
Author Scherer PE and Lisanti MP.
Journal J. Biol. Chem. 272 (33), 20698-20705 (1997)
Title Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle .
Author Tang Z, Scherer PE, Okamoto T, Song K, Chu C, Kohtz DS, Nishimoto I, Lodish HF and Lisanti MP.
Journal J. Biol. Chem. 271 (4), 2255-2261 (1996)
Title Evidence for a regulated interaction between heterotrimeric G proteins and caveolin .
Author Li S, Okamoto T, Chun M, Sargiacomo M, Casanova JE, Hansen SH, Nishimoto I and Lisanti MP.
Journal J. Biol. Chem. 270 (26), 15693-15701 (1995)
Title Caveolinopathies .
Author Bruno,C., Sotgia,F., Gazzerro,E., Minetti,C. and Lisanti,M.P.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Romano-Ward Syndrome .
Author Alders,M. and Mannens,M.M.A.M.
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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