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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens actinin, alpha 2 (ACTN2), mRNA.


RefSeq Accession Definition Services Price Order
NM_001103 Homo sapiens actinin, alpha 2 (ACTN2), mRNA. ORF Sequence $778.65
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_001103.2, 161377421
Length 4528 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens actinin, alpha 2 (ACTN2), mRNA.
Product alpha-actinin-2
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. [provided by RefSeq, Jul 2008].

RefSeq NP_001094.1
CDS 205..2889
Misc Feature(1)322..630
Misc Feature(2)322..630
Misc Feature(3)order(322..324,328..336,343..345,352..354,514..519,
Misc Feature(4)658..966
Misc Feature(5)order(658..663,667..675,682..684,691..693,850..855,
Misc Feature(6)1045..1377
Misc Feature(7)1054..1725
Misc Feature(8)1402..1419
Misc Feature(9)1405..1722
Misc Feature(10)1417..2091
Misc Feature(11)1723..1740
Misc Feature(12)1750..2085
Misc Feature(13)2113..2424
Misc Feature(14)2113..2421
Misc Feature(15)2473..2661
Misc Feature(16)order(2500..2502,2506..2508,2512..2514,2533..2535,
Misc Feature(17)2509..2667
Misc Feature(18)2674..2874
Exon (1)1..330
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (2)331..445
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (3)446..565
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (4)566..652
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (5)653..740
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (6)741..819
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (7)820..901
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (8)902..987
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (9)988..1080
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (10)1081..1311
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (11)1312..1459
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (12)1460..1610
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (13)1611..1719
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (14)1720..1860
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (15)1861..2043
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (16)2044..2178
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (17)2179..2358
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (18)2359..2505
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (19)2506..2571
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (20)2572..2730
Gene:ACTN2
Gene Synonym:CMD1AA
Exon (21)2731..4528
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
162+dbSNP:
162+c, gdbSNP:200003968
183+c, tdbSNP:138279482
202+g, tdbSNP:201920417
230+a, gdbSNP:121434525
358+c, tdbSNP:199910162
369+c, tdbSNP:193922634
390+c, tdbSNP:34403480
448+dbSNP:
448+a, gdbSNP:139424431
505+a, gdbSNP:149871432
535+a, gdbSNP:148628141
555+a, gdbSNP:1341864
580..587+dbSNP:
580..587+, aacgtgaadbSNP:201411937
582+a, gdbSNP:1341863
642+c, tdbSNP:200958761
645+a, gdbSNP:150182164
712+dbSNP:
712+a, cdbSNP:148954170
750+dbSNP:
750+c, tdbSNP:34263845
779+a, gdbSNP:200316891
821+dbSNP:
821+a, gdbSNP:148048699
890+g, tdbSNP:141793230
894+a, tdbSNP:139489232
909+dbSNP:
909+c, gdbSNP:2288599
975+a, gdbSNP:201545916
986+a, tdbSNP:189862112
990+dbSNP:
990+c, gdbSNP:201636760
1007+a, gdbSNP:141416949
1074+a, gdbSNP:116464082
1097+dbSNP:
1097+a, gdbSNP:142482143
1103+c, tdbSNP:144025957
1122+c, tdbSNP:148646265
1124+a, gdbSNP:112882610
1130+c, tdbSNP:146568303
1131+c, tdbSNP:145411160
1173+c, tdbSNP:200247458
1261+c, gdbSNP:1150181
1319+dbSNP:
1319+c, gdbSNP:143200575
1396+c, tdbSNP:148189507
1439+c, tdbSNP:139515659
1440+a, gdbSNP:143566058
1496+dbSNP:
1496+c, tdbSNP:149846886
1497+a, gdbSNP:144819985
1500+a, gdbSNP:35956798
1502+c, tdbSNP:143749154
1509+a, gdbSNP:12043223
1511+a, cdbSNP:199955427
1545+c, tdbSNP:34785693
1559+c, gdbSNP:201875003
1575+c, tdbSNP:114008185
1587+c, tdbSNP:34827377
1627+dbSNP:
1627+a, gdbSNP:80257412
1629+c, tdbSNP:148223734
1630+a, gdbSNP:142943120
1648+c, tdbSNP:199604590
1656+a, gdbSNP:200529923
1688+c, tdbSNP:200248944
1689+a, gdbSNP:201179281
1717+g, tdbSNP:34193420
1723+dbSNP:
1723+a, gdbSNP:144553482
1790+a, gdbSNP:200143657
1798+a, tdbSNP:200969588
1850+a, tdbSNP:149794430
1858+a, cdbSNP:77436809
1902+dbSNP:
1902+c, tdbSNP:148961019
1918+c, tdbSNP:142142718
1919+a, gdbSNP:141434302
1944+c, tdbSNP:3738546
1952+a, gdbSNP:200631005
1998+a, gdbSNP:137890030
2014+a, gdbSNP:35997569
2068+a, gdbSNP:138452803
2134+a, gdbSNP:146164600
2136+a, cdbSNP:144680712
2150+c, tdbSNP:150825710
2188+dbSNP:
2188+c, tdbSNP:150021739
2256+c, tdbSNP:202135204
2267+a, gdbSNP:145248415
2280+c, tdbSNP:144122893
2319+c, tdbSNP:143005291
2333+a, gdbSNP:199535709
2343+a, gdbSNP:34975493
2347+c, tdbSNP:142922067
2351+c, tdbSNP:193922635
2352+a, gdbSNP:191631773
2365+dbSNP:
2365+a, cdbSNP:149433837
2415+a, gdbSNP:200553726
2436+g, tdbSNP:144676770
2439+a, gdbSNP:141884271
2441+a, gdbSNP:112615744
2456+c, tdbSNP:140836849
2528+dbSNP:
2528+a, tdbSNP:147616930
2581+dbSNP:
2581+a, gdbSNP:145450474
2616+c, tdbSNP:201700660
2623+c, gdbSNP:200282066
2627+c, tdbSNP:148833906
2628+c, tdbSNP:202204431
2640+a, gdbSNP:146445537
2646+c, tdbSNP:1803031
2672+c, tdbSNP:12072499
2692+a, cdbSNP:145087599
2700+c, tdbSNP:189019392
2701+a, gdbSNP:200854335
2720+c, tdbSNP:200357413
2755+dbSNP:
2755+c, tdbSNP:141563497
2756+a, gdbSNP:201335965
2772+a, gdbSNP:149554430
2781+c, tdbSNP:193922636
2805+c, tdbSNP:147245615
2806+a, gdbSNP:143150260
2814+a, gdbSNP:12063382
2843+a, cdbSNP:143957325
2853+a, gdbSNP:146426213
2862+c, tdbSNP:143297401
2863+a, gdbSNP:148972050
2881+a, gdbSNP:142646143
2882+a, gdbSNP:199920384
2935+c, tdbSNP:74146254
2936+a, gdbSNP:191235353
2984..2985+, gadbSNP:148159045
2995..2996+, gdbSNP:199921605
3000+a, gdbSNP:1051251
3017+a, gdbSNP:142016713
3046+c, tdbSNP:184479165
3175+c, tdbSNP:190536248
3285+a, gdbSNP:181994486
3312+a, gdbSNP:114880747
3336+c, gdbSNP:1051253
3415+c, tdbSNP:1803032
3443..3444+, cdbSNP:35814631
3468+g, tdbSNP:185760073
3520+a, gdbSNP:189835259
3589+a, gdbSNP:12733179
3591+a, gdbSNP:146311878
3613+c, gdbSNP:7532533
3637+a, gdbSNP:7522310
3843+a, gdbSNP:2153203
3868+a, cdbSNP:181615071
3907+a, gdbSNP:185695273
3929+a, gdbSNP:190412319
3976+a, gdbSNP:11801672
4192+a, gdbSNP:12563377
4340+a, tdbSNP:139476464
4424+c, tdbSNP:142223565
4485+a, gdbSNP:180804353
Gene SymbolACTN2
Gene SynonymCMD1AA
Chromosome1
Locus Map1q42-q43
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001103 Homo sapiens actinin, alpha 2 (ACTN2), mRNA. Full Length $1584.80
ORF Sequence $778.65
Title Substrate-selective and calcium-independent activation of CaMKII by alpha-actinin .
Author Jalan-Sakrikar,N., Bartlett,R.K., Baucum,A.J. II and Colbran,R.J.
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,J.R., Kunkel,L.M. and Beggs,A.H.
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,S.M., Danzeisen,J.L., Isaacson,R.E., Seemann,T., Achtman,M. and Johnson,T.J.
Journal J. Bacteriol. 194 (2), 395-405 (2012)
Title Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients .
Author Saus,E., Brunet,A., Armengol,L., Alonso,P., Crespo,J.M., Fernandez-Aranda,F., Guitart,M., Martin-Santos,R., Menchon,J.M., Navines,R., Soria,V., Torrens,M., Urretavizcaya,M., Valles,V., Gratacos,M. and Estivill,X.
Journal J Psychiatr Res 44 (14), 971-978 (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 Leukocyte adhesion to vascular endothelium induces E-selectin linkage to the actin cytoskeleton .
Author Yoshida,M., Westlin,W.F., Wang,N., Ingber,D.E., Rosenzweig,A., Resnick,N. and Gimbrone,M.A. Jr.
Journal J. Cell Biol. 133 (2), 445-455 (1996)
Title Activation of human neutrophils induces an interaction between the integrin beta 2-subunit (CD18) and the actin binding protein alpha-actinin .
Author Pavalko,F.M. and LaRoche,S.M.
Journal J. Immunol. 151 (7), 3795-3807 (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,A.H., Phillips,H.A., Kozman,H., Mulley,J.C., Wilton,S.D., Kunkel,L.M. and Laing,N.G.
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,A.H., Byers,T.J., Knoll,J.H., Boyce,F.M., Bruns,G.A. and Kunkel,L.M.
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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