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Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu46824 Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu46824C Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. Customized vector In-stock $149.00 5-7

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_181486.2, 387527994
Length 1557 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.
Product T-box transcription factor TBX5 isoform 1
Comment

Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).


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_852259.1
CDS 575..2131
Misc Feature(1)437..439
Misc Feature(2)731..1297
Misc Feature(3)731..1297
Misc Feature(4)order(797..799,803..820,824..826,911..913,1061..1063,
Misc Feature(5)order(869..871,998..1006,1136..1138)
Exon (1)1..536
Gene:TBX5
Gene Synonym:HOS
Exon (2)537..721
Gene:TBX5
Gene Synonym:HOS
Exon (3)722..816
Gene:TBX5
Gene Synonym:HOS
Exon (4)817..936
Gene:TBX5
Gene Synonym:HOS
Exon (5)937..1084
Gene:TBX5
Gene Synonym:HOS
Exon (6)1085..1237
Gene:TBX5
Gene Synonym:HOS
Exon (7)1238..1329
Gene:TBX5
Gene Synonym:HOS
Exon (8)1330..1556
Gene:TBX5
Gene Synonym:HOS
Exon (9)1557..3733
Gene:TBX5
Gene Synonym:HOS
Translation MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHE RELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNK WSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ PRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSD DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGP SQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQ QQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDR LPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPG TLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS
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Position Chain Variation Link
complement(15)-dbSNP:
complement(15)-t, adbSNP:185270151
complement(97..98)-, ctdbSNP:372595886
complement(115)-t, gdbSNP:11067100
223+c, tdbSNP:139857351
complement(267)-t, cdbSNP:181069109
complement(363)-t, cdbSNP:12423887
complement(376)-g, adbSNP:145944567
complement(590)-t, cdbSNP:145365553
complement(629)-c, adbSNP:200461617
complement(642)-t, gdbSNP:141609745
complement(647)-c, adbSNP:148195311
complement(673)-t, cdbSNP:372557517
complement(674)-c, adbSNP:368311885
complement(688)-g, adbSNP:34014008
complement(689)-g, adbSNP:145703644
complement(691)-t, cdbSNP:149030937
719+a, cdbSNP:104894383
complement(732)-dbSNP:
complement(732)-t, cdbSNP:369919453
complement(734)-t, cdbSNP:145890934
735+c, tdbSNP:104894384
complement(778)-g, adbSNP:375854421
779+g, tdbSNP:104894377
complement(791..792)-, tdbSNP:35857654
812+a, gdbSNP:104894381
883+dbSNP:
883+c, tdbSNP:28730763
complement(890)-t, cdbSNP:147710408
complement(892)-g, adbSNP:141457646
complement(896)-g, adbSNP:376621016
905+g, tdbSNP:77357563
complement(928)-g, adbSNP:151249768
complement(949)-dbSNP:
complement(949)-g, adbSNP:142293206
982+a, cdbSNP:104894379
complement(994)-g, cdbSNP:148715804
complement(1001)-t, cdbSNP:374906778
complement(1006)-t, gdbSNP:146038442
complement(1129)-dbSNP:
complement(1129)-g, adbSNP:142631741
complement(1150)-g, adbSNP:201212120
complement(1173)-t, gdbSNP:370771953
complement(1174)-c, adbSNP:139329918
complement(1183)-g, adbSNP:146230255
complement(1186)-g, adbSNP:200326827
complement(1187)-c, adbSNP:190881877
complement(1189)-g, cdbSNP:200921127
complement(1213)-t, cdbSNP:149274578
complement(1225)-g, adbSNP:201394336
complement(1243)-dbSNP:
complement(1243)-t, cdbSNP:376519728
1283+c, tdbSNP:104894382
1284+a, gdbSNP:104894378
complement(1297)-g, adbSNP:368563052
complement(1303)-c, adbSNP:186183947
complement(1310)-t, gdbSNP:374600913
complement(1321)-t, cdbSNP:138552878
complement(1342)-dbSNP:
complement(1342)-g, adbSNP:370805715
complement(1343)-t, cdbSNP:200382742
complement(1355)-t, adbSNP:377625550
complement(1360)-g, adbSNP:375955080
complement(1361)-t, cdbSNP:147405081
complement(1365)-t, cdbSNP:201071418
complement(1378)-g, cdbSNP:35110399
complement(1401)-t, cdbSNP:147977741
complement(1402)-g, adbSNP:146908258
complement(1403)-t, cdbSNP:369697961
complement(1408)-g, adbSNP:142609815
complement(1410)-t, cdbSNP:115178276
complement(1422)-t, gdbSNP:147077037
complement(1469)-t, cdbSNP:201637366
complement(1501)-t, gdbSNP:201164281
complement(1559)-dbSNP:
complement(1559)-t, cdbSNP:142807139
complement(1569)-g, adbSNP:374446377
complement(1594)-t, cdbSNP:148977955
complement(1637)-g, adbSNP:372827955
complement(1638)-t, cdbSNP:145784562
complement(1650)-g, adbSNP:149792175
complement(1656)-t, cdbSNP:140945366
1688+a, tdbSNP:79040021
complement(1689)-g, adbSNP:143068551
complement(1697)-g, adbSNP:377532269
complement(1726)-t, cdbSNP:200073406
complement(1736)-t, cdbSNP:139371720
complement(1758)-t, cdbSNP:146269931
complement(1777)-c, adbSNP:377649723
complement(1806)-g, adbSNP:267603320
complement(1807)-g, cdbSNP:188839350
complement(1808)-t, cdbSNP:114124210
complement(1816)-g, adbSNP:370133092
complement(1855)-g, adbSNP:6489957
complement(1867)-g, cdbSNP:143971376
complement(1870)-t, cdbSNP:149474574
complement(1879)-c, adbSNP:372185479
complement(1925)-t, cdbSNP:200704209
complement(1955)-t, cdbSNP:201152128
complement(1981)-g, cdbSNP:373007088
1993+a, gdbSNP:1048078
complement(1999)-g, cdbSNP:199729532
complement(2017)-g, adbSNP:137928706
complement(2023)-t, cdbSNP:117965596
complement(2050)-g, adbSNP:369034176
complement(2064)-g, adbSNP:374676021
complement(2093)-t, cdbSNP:374924325
complement(2097)-g, adbSNP:147339942
complement(2119)-g, adbSNP:186780790
complement(2120)-t, cdbSNP:200354838
complement(2143)-g, adbSNP:201497094
complement(2160)-g, adbSNP:201997498
complement(2168..2173)-, tctcttdbSNP:112808902
complement(2171)-t, cdbSNP:10850326
complement(2174)-c, adbSNP:371119204
complement(2176)-t, cdbSNP:377033399
complement(2181..2182)-, ctdbSNP:201961625
2208+a, gdbSNP:28730761
complement(2224)-g, adbSNP:76633287
complement(2225)-g, cdbSNP:76347803
complement(2226)-t, gdbSNP:78828439
complement(2227)-t, gdbSNP:76694710
2228+a, gdbSNP:883079
complement(2228)-t, cdbSNP:386619257
complement(2252)-t, cdbSNP:112051831
2260+a, cdbSNP:28730760
complement(2261)-t, adbSNP:371880710
complement(2310)-g, cdbSNP:181130921
complement(2399)-g, adbSNP:2384410
complement(2421)-t, cdbSNP:370109574
complement(2515)-g, adbSNP:12426660
complement(2608)-, adbSNP:151183753
complement(2655)-t, adbSNP:76799455
complement(2694)-t, cdbSNP:78058633
complement(2703)-t, adbSNP:189764599
complement(2732)-t, cdbSNP:116382074
complement(2804)-g, adbSNP:140532076
complement(2848)-g, adbSNP:148346089
complement(2870)-g, adbSNP:117414057
complement(2943)-g, adbSNP:143511878
complement(3040)-t, cdbSNP:184360838
complement(3194)-g, adbSNP:192445542
complement(3197)-g, adbSNP:188337192
complement(3225)-t, gdbSNP:184793497
complement(3232)-t, cdbSNP:6489956
3319+a, gdbSNP:141223729
complement(3458..3459)-, adbSNP:201799304
complement(3459..3460)-, adbSNP:373833293
complement(3466)-, adbSNP:201166554
complement(3488)-g, adbSNP:147774482
complement(3504)-c, adbSNP:192527148
complement(3506)-, tdbSNP:199773239
complement(3507)-t, adbSNP:75334514
complement(3516)-g, adbSNP:200407853
complement(3516)-, adbSNP:35534655
complement(3518)-g, adbSNP:202095845
complement(3626)-g, cdbSNP:187379531
complement(3651)-c, adbSNP:183595902
complement(3662..3663)-, cdbSNP:34050413
Gene SymbolTBX5
Gene SynonymHOS
Chromosome12
Locus Map12q24.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000192 Homo sapiens T-box 5 (TBX5), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_181486 Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. In-stock $99.00 5-7
NM_080717 Homo sapiens T-box 5 (TBX5), transcript variant 3, mRNA. In-stock $99.00 5-7
XM_006719582 PREDICTED: Homo sapiens T-box 5 (TBX5), transcript variant X1, mRNA. On-demand $219.00 7-9
Title SNP rs3825214 in TBX5 is associated with lone atrial fibrillation in Chinese Han population .
Author Zang X, Zhang S, Xia Y, Li S, Fu F, Li X, Wang F, Zhang R, Tian X, Gao L, Zhang J, Yang Y, Tu X and Wang Q.
Journal PLoS ONE 8 (5), E64966 (2013)
Title Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array .
Author Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA, Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J, Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ, Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D, Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT, Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D, Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA, Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D, Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C, Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T, Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG, Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S, Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK, Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA, Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C, Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA, Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and Easton DF.
Journal Nat. Genet. 45 (4), 385-391 (2013)
Title beta-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis .
Author Rosenbluh J, Nijhawan D, Cox AG, Li X, Neal JT, Schafer EJ, Zack TI, Wang X, Tsherniak A, Schinzel AC, Shao DD, Schumacher SE, Weir BA, Vazquez F, Cowley GS, Root DE, Mesirov JP, Beroukhim R, Kuo CJ, Goessling W and Hahn WC.
Journal Cell 151 (7), 1457-1473 (2012)
Title Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts .
Author Butler AM, Yin X, Evans DS, Nalls MA, Smith EN, Tanaka T, Li G, Buxbaum SG, Whitsel EA, Alonso A, Arking DE, Benjamin EJ, Berenson GS, Bis JC, Chen W, Deo R, Ellinor PT, Heckbert SR, Heiss G, Hsueh WC, Keating BJ, Kerr KF, Li Y, Limacher MC, Liu Y, Lubitz SA, Marciante KD, Mehra R, Meng YA, Newman AB, Newton-Cheh C, North KE, Palmer CD, Psaty BM, Quibrera PM, Redline S, Reiner AP, Rotter JI, Schnabel RB, Schork NJ, Singleton AB, Smith JG, Soliman EZ, Srinivasan SR, Zhang ZM, Zonderman AB, Ferrucci L, Murray SS, Evans MK, Sotoodehnia N, Magnani JW and Avery CL.
Journal Circ Cardiovasc Genet 5 (6), 639-646 (2012)
Title Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population .
Author Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and Butte NF.
Journal PLoS ONE 7 (12), E51954 (2012)
Title Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations .
Author Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Pereira A, Krieger J, Mesquita SF, Kamisago M, Morton CC, Pierpont ME, Muller CW, Seidman JG and Seidman CE.
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (6), 2919-2924 (1999)
Title Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome .
Author Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG and Seidman CE.
Journal Nat. Genet. 15 (1), 30-35 (1997)
Title Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family .
Author Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ and Brook JD.
Journal Nat. Genet. 15 (1), 21-29 (1997)
Title Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q .
Author Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young
Journal Nat. Genet. 6 (4), 401-404 (1994)
Title Holt-Oram Syndrome .
Author McDermott,D.A., Fong,J.C. and Basson,C.T.
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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