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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22647 Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu22647C Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001103.3, 507588246
Length 2685 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 1, mRNA.
Product alpha-actinin-2 isoform 1
Comment

Summary: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013].


Transcript Variant: This variant (1) encodes one of the longer isoforms (1) of this gene.


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_001094.1
CDS 221..2905
Misc Feature(1)338..646
Misc Feature(2)338..646
Misc Feature(3)order(338..340,344..352,359..361,368..370,530..535,
Misc Feature(4)674..991
Misc Feature(5)order(674..679,683..691,698..700,707..709,866..871,
Misc Feature(6)1061..1393
Misc Feature(7)1061..1393
Misc Feature(8)1421..1738
Misc Feature(9)1424..2107
Misc Feature(10)1739..1756
Misc Feature(11)1766..2101
Misc Feature(12)2129..2440
Misc Feature(13)2129..2437
Misc Feature(14)2489..2677
Misc Feature(15)2513..2674
Misc Feature(16)order(2516..2518,2522..2524,2528..2530,2549..2551,
Misc Feature(17)2690..2890
Exon (1)1..346
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (2)347..461
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (3)462..581
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (4)582..668
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (5)669..756
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (6)757..835
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (7)836..917
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (8)918..1003
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (9)1004..1096
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (10)1097..1327
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (11)1328..1475
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (12)1476..1626
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (13)1627..1735
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (14)1736..1876
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (15)1877..2059
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (16)2060..2194
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (17)2195..2374
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (18)2375..2521
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (19)2522..2587
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (20)2588..2746
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (21)2747..4917
Gene:ACTN2
Gene Synonym:CMD1AA
Translation MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIE NIEEDFRNGLKLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAE EIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSW KDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKP DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRT IPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAF MPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGK EQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQ DMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYS TVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEI ARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRA CLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILAS DKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL
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Position Chain Variation Link
178+dbSNP:
178+c, gdbSNP:200003968
187+c, tdbSNP:374500536
188+g, tdbSNP:377343516
199+c, tdbSNP:138279482
200+a, gdbSNP:373785727
203+a, cdbSNP:367979371
214+a, gdbSNP:370646112
218+g, tdbSNP:201920417
238+c, tdbSNP:368367224
246+a, gdbSNP:121434525
268+a, gdbSNP:397516580
313+c, tdbSNP:397516586
333+a, gdbSNP:376510300
374+c, tdbSNP:199910162
385+c, tdbSNP:193922634
406+c, tdbSNP:34403480
464+dbSNP:
464+a, gdbSNP:139424431
469+c, gdbSNP:376981679
485+c, tdbSNP:369629689
521+a, gdbSNP:149871432
551+a, gdbSNP:148628141
563+a, gdbSNP:397516579
complement(571)-g, adbSNP:1341864
596..603+dbSNP:
596..603+, aacgtgaadbSNP:201411937
complement(598)-g, adbSNP:1341863
639+a, gdbSNP:370689695
658+c, tdbSNP:200958761
661+a, gdbSNP:150182164
728+dbSNP:
728+a, cdbSNP:148954170
766+dbSNP:
766+c, tdbSNP:34263845
776+c, tdbSNP:371930065
795+a, gdbSNP:200316891
798..803+, accggcdbSNP:397516581
837+dbSNP:
837+a, gdbSNP:148048699
906+g, tdbSNP:141793230
910+a, tdbSNP:139489232
925+dbSNP:
925+c, gdbSNP:2288599
940+c, tdbSNP:375935508
956+a, gdbSNP:397516582
973+c, tdbSNP:397516583
982+c, tdbSNP:397516584
991+a, gdbSNP:201545916
1002+a, tdbSNP:189862112
1006+dbSNP:
1006+c, g, tdbSNP:201636760
1023+a, gdbSNP:141416949
1090+a, gdbSNP:116464082
1113+dbSNP:
1113+a, gdbSNP:142482143
1119+c, tdbSNP:144025957
1138+c, tdbSNP:148646265
1140+a, gdbSNP:112882610
1146+c, tdbSNP:146568303
1147+c, tdbSNP:145411160
1167+c, tdbSNP:370757762
1189+c, tdbSNP:200247458
1266+a, tdbSNP:376335356
1277+c, g, tdbSNP:1150181
1301+a, gdbSNP:368409665
1309+c, tdbSNP:397516562
1324+a, gdbSNP:397516563
1327+a, gdbSNP:369218950
1335+dbSNP:
1335+c, gdbSNP:143200575
1351+a, gdbSNP:374831016
1369+a, gdbSNP:369085364
1382+a, tdbSNP:376144003
1412+c, tdbSNP:148189507
1455+c, tdbSNP:139515659
1456+a, gdbSNP:143566058
1498+dbSNP:
1498+a, gdbSNP:397516565
1508+c, gdbSNP:370865082
1512+c, tdbSNP:149846886
1513+a, gdbSNP:144819985
1516+a, gdbSNP:35956798
1518+c, tdbSNP:143749154
1525+a, gdbSNP:12043223
1527+a, cdbSNP:199955427
1552+c, tdbSNP:373709019
1558+a, gdbSNP:397516566
1561+c, tdbSNP:34785693
1575+c, gdbSNP:201875003
1591+c, tdbSNP:114008185
1603+c, tdbSNP:34827377
1604+g, tdbSNP:376923220
1613+a, gdbSNP:371434667
1631+dbSNP:
1631+c, gdbSNP:397516568
1643+a, gdbSNP:80257412
1645+c, tdbSNP:148223734
1646+a, gdbSNP:142943120
1664+c, tdbSNP:199604590
1672+a, gdbSNP:200529923
1696+a, tdbSNP:397516569
1704+c, tdbSNP:200248944
1705+a, gdbSNP:201179281
1733+g, tdbSNP:34193420
1739+dbSNP:
1739+a, gdbSNP:144553482
1761+c, tdbSNP:371954663
1806+a, gdbSNP:200143657
1813+a, gdbSNP:397516570
1814+a, tdbSNP:200969588
1820+a, gdbSNP:376596726
1834+c, tdbSNP:368615266
1852+c, tdbSNP:372229326
1866+a, tdbSNP:149794430
1867+a, gdbSNP:368984334
complement(1874)-c, adbSNP:77436809
1918+dbSNP:
1918+c, tdbSNP:148961019
1924+a, gdbSNP:369560444
1928+a, gdbSNP:373132971
1934+c, tdbSNP:142142718
1935+a, gdbSNP:141434302
1960+c, tdbSNP:3738546
1968+a, gdbSNP:200631005
1991+a, gdbSNP:377650301
1998+c, tdbSNP:371143839
2008+c, tdbSNP:374530022
2014+a, gdbSNP:137890030
2024+a, gdbSNP:377356540
2030+a, gdbSNP:35997569
2042+c, tdbSNP:397516571
2082+a, gdbSNP:368040932
2084+a, gdbSNP:138452803
2112+a, gdbSNP:370908799
2150+a, gdbSNP:146164600
2152+a, cdbSNP:144680712
2166+c, tdbSNP:150825710
2192+c, gdbSNP:374135486
2203+dbSNP:
2203+c, tdbSNP:372137571
2204+c, tdbSNP:150021739
2223+c, gdbSNP:397516572
2242+a, gdbSNP:377003530
2272+c, tdbSNP:202135204
2283+a, gdbSNP:145248415
2296+c, tdbSNP:144122893
2328+a, tdbSNP:370862426
2335+c, tdbSNP:143005291
2349+a, gdbSNP:199535709
2359+a, gdbSNP:34975493
2363+c, tdbSNP:142922067
2367+c, tdbSNP:193922635
2368+a, gdbSNP:191631773
2381+dbSNP:
2381+a, cdbSNP:149433837
2384+a, gdbSNP:372608387
2431+a, gdbSNP:200553726
2446+c, tdbSNP:376982788
2452+g, tdbSNP:144676770
2455+a, gdbSNP:141884271
2457+a, gdbSNP:112615744
2472+c, tdbSNP:140836849
2526+dbSNP:
2526+a, cdbSNP:397516573
2543+c, tdbSNP:370677725
2544+a, tdbSNP:147616930
2596+dbSNP:
2596+c, tdbSNP:369320952
2597+a, gdbSNP:145450474
2606+c, tdbSNP:397516574
2632+c, tdbSNP:201700660
2639+c, gdbSNP:200282066
2643+c, tdbSNP:148833906
2644+c, tdbSNP:202204431
2656+a, gdbSNP:146445537
2662+c, tdbSNP:1803031
2665+c, tdbSNP:397516575
2688+c, tdbSNP:12072499
2697+a, tdbSNP:372348405
2704+c, tdbSNP:397516576
2708+a, cdbSNP:145087599
2716+c, tdbSNP:189019392
2717+a, gdbSNP:200854335
2736+c, tdbSNP:200357413
2760+dbSNP:
2760+c, tdbSNP:370569935
2761+a, gdbSNP:374278766
2771+c, tdbSNP:141563497
2772+a, gdbSNP:201335965
2780+c, tdbSNP:370992948
2787+c, tdbSNP:375588211
2788+a, gdbSNP:149554430
2797+c, tdbSNP:193922636
2807+a, cdbSNP:397516577
2821+c, tdbSNP:147245615
2822+a, gdbSNP:143150260
2829+c, tdbSNP:368754823
2830+a, gdbSNP:12063382
2832+g, tdbSNP:370341149
2859+a, cdbSNP:143957325
2869+a, gdbSNP:146426213
2876+c, tdbSNP:371271055
2878+c, tdbSNP:143297401
2879+a, gdbSNP:148972050
2896+c, tdbSNP:397516578
2897+a, gdbSNP:142646143
2898+a, gdbSNP:199920384
2951+c, tdbSNP:74146254
2952+a, gdbSNP:191235353
3000..3001+, gadbSNP:148159045
3011..3012+, gdbSNP:199921605
3016+, adbSNP:370482371
3016+a, gdbSNP:1051251
3028+c, tdbSNP:369096287
3033+a, gdbSNP:142016713
3062+c, tdbSNP:184479165
3191+c, tdbSNP:190536248
3301+a, gdbSNP:181994486
3328+a, gdbSNP:114880747
3352+, cdbSNP:374820348
3352+c, gdbSNP:1051253
3431+c, tdbSNP:1803032
3459..3460+, cdbSNP:35814631
3484+g, tdbSNP:185760073
3536+a, gdbSNP:189835259
3605+a, gdbSNP:12733179
3607+a, gdbSNP:146311878
3629+c, gdbSNP:7532533
3653+a, gdbSNP:7522310
3859+a, gdbSNP:2153203
3884+a, cdbSNP:181615071
3923+a, gdbSNP:185695273
3945+a, gdbSNP:190412319
3992+a, gdbSNP:11801672
4208+a, gdbSNP:12563377
4356+a, tdbSNP:139476464
4440+c, tdbSNP:142223565
4501+a, gdbSNP:180804353
4768+c, tdbSNP:10159350
4824+c, gdbSNP:186068084
4833..4835+, tatdbSNP:139516014
4864+a, cdbSNP:151212105
Gene SymbolACTN2
Gene SynonymCMD1AA
Chromosome1
Locus Map1q42-q43
Title Genome-wide association study of chronic periodontitis in a general German population .
Author Teumer A, Holtfreter B, Volker U, Petersmann A, Nauck M, Biffar R, Volzke H, Kroemer HK, Meisel P, Homuth G and Kocher T.
Journal J. Clin. Periodontol. 40 (11), 977-985 (2013)
Title Substrate-selective and calcium-independent activation of CaMKII by alpha-actinin .
Author Jalan-Sakrikar N, Bartlett RK, Baucum AJ 2nd and Colbran RJ.
Journal J. Biol. Chem. 287 (19), 15275-15283 (2012)
Title alpha-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by alpha-actinin-3 revealing functional differences between sarcomeric isoforms .
Author Gupta V, Discenza M, Guyon JR, Kunkel LM and Beggs AH.
Journal FASEB J. 26 (5), 1892-1908 (2012)
Title Genome sequences and phylogenetic analysis of K88- and F18-positive porcine enterotoxigenic Escherichia coli .
Author Shepard SM, Danzeisen JL, Isaacson RE, Seemann T, Achtman M and Johnson TJ.
Journal J. Bacteriol. 194 (2), 395-405 (2012)
Title Activation of human neutrophils induces an interaction between the integrin beta 2-subunit (CD18) and the actin binding protein alpha-actinin .
Author Pavalko FM and LaRoche SM.
Journal J. Immunol. 151 (7), 3795-3807 (1993)
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)
Title Dilated Cardiomyopathy Overview .
Author Hershberger,R.E. and Morales,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1 .
Author Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM and Laing NG.
Journal Genomics 13 (4), 1314-1315 (1992)
Title Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11 .
Author Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA and Kunkel LM.
Journal J. Biol. Chem. 267 (13), 9281-9288 (1992)
Title Alpha-actinin and vinculin in human neutrophils: reorganization during adhesion and relation to the actin network .
Author Yuruker B and Niggli V.
Journal J. Cell. Sci. 101 (PT 2), 403-414 (1992)

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