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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_181486 Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_181486.2, 387527994
Length 3828 bp
Structure linear
Update Date 20-APR-2013
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(115)-t, gdbSNP:11067100
complement(223)-t, cdbSNP: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(688)-g, adbSNP:34014008
complement(689)-g, adbSNP:145703644
complement(691)-t, cdbSNP:149030937
complement(719)-c, adbSNP:104894383
complement(734)-dbSNP:
complement(734)-t, cdbSNP:145890934
complement(735)-t, cdbSNP:104894384
complement(779)-t, gdbSNP:104894377
complement(790)-t, cdbSNP:146898572
complement(793..794)-, tdbSNP:35857654
complement(812)-g, adbSNP:104894381
complement(883)-dbSNP:
complement(883)-t, cdbSNP:28730763
complement(890)-t, cdbSNP:147710408
complement(892)-g, adbSNP:141457646
complement(905)-t, gdbSNP:77357563
complement(928)-g, adbSNP:151249768
complement(949)-dbSNP:
complement(949)-g, adbSNP:142293206
complement(982)-c, adbSNP:104894379
complement(994)-g, cdbSNP:148715804
complement(1006)-t, gdbSNP:146038442
complement(1129)-dbSNP:
complement(1129)-g, adbSNP:142631741
complement(1150)-g, adbSNP:201212120
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(1283)-dbSNP:
complement(1283)-t, cdbSNP:104894382
complement(1284)-g, adbSNP:104894378
complement(1303)-c, adbSNP:186183947
complement(1321)-t, cdbSNP:138552878
complement(1343)-dbSNP:
complement(1343)-t, cdbSNP:200382742
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(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(1594)-t, cdbSNP:148977955
complement(1638)-t, cdbSNP:145784562
complement(1650)-g, adbSNP:149792175
complement(1656)-t, cdbSNP:140945366
complement(1688)-t, adbSNP:79040021
complement(1689)-g, adbSNP:143068551
complement(1709)-t, gdbSNP:144152915
complement(1726)-t, cdbSNP:200073406
complement(1736)-t, cdbSNP:139371720
complement(1758)-t, cdbSNP:146269931
complement(1807)-g, cdbSNP:188839350
complement(1808)-t, cdbSNP:114124210
complement(1855)-g, adbSNP:6489957
complement(1867)-g, cdbSNP:143971376
complement(1870)-t, cdbSNP:149474574
complement(1925)-t, cdbSNP:200704209
complement(1955)-t, cdbSNP:201152128
complement(1993)-g, adbSNP:1048078
complement(1999)-g, cdbSNP:199729532
complement(2017)-g, adbSNP:137928706
complement(2023)-t, cdbSNP:117965596
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(2181..2182)-, ctdbSNP:201961625
complement(2208)-g, adbSNP:28730761
complement(2224)-g, adbSNP:76633287
complement(2225)-g, cdbSNP:76347803
complement(2226)-t, gdbSNP:78828439
complement(2227)-t, gdbSNP:76694710
complement(2228)-g, adbSNP:883079
complement(2252)-t, cdbSNP:112051831
complement(2260)-c, adbSNP:28730760
complement(2310)-g, cdbSNP:181130921
complement(2399)-g, adbSNP:2384410
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
complement(3319)-g, adbSNP:141223729
complement(3458..3459)-, adbSNP:201799304
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(3663..3664)-, 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 $509.00 $460.00 12
NM_080717 Homo sapiens T-box 5 (TBX5), transcript variant 3, mRNA. In-stock $509.00 $460.00 12
NM_181486 Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. In-stock $509.00 $460.00 12
Title beta-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis .
Author Rosenbluh,J., Nijhawan,D., Cox,A.G., Li,X., Neal,J.T., Schafer,E.J., Zack,T.I., Wang,X., Tsherniak,A., Schinzel,A.C., Shao,D.D., Schumacher,S.E., Weir,B.A., Vazquez,F., Cowley,G.S., Root,D.E., Mesirov,J.P., Beroukhim,R., Kuo,C.J., Goessling,W. and Hahn,W.C.
Journal Cell 151 (7), 1457-1473 (2012)
Title Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction .
Author Wilk,J.B., Shrine,N.R., Loehr,L.R., Zhao,J.H., Manichaikul,A., Lopez,L.M., Smith,A.V., Heckbert,S.R., Smolonska,J., Tang,W., Loth,D.W., Curjuric,I., Hui,J., Cho,M.H., Latourelle,J.C., Henry,A.P., Aldrich,M., Bakke,P., Beaty,T.H., Bentley,A.R., Borecki,I.B., Brusselle,G.G., Burkart,K.M., Chen,T.H., Couper,D., Crapo,J.D., Davies,G., Dupuis,J., Franceschini,N., Gulsvik,A., Hancock,D.B., Harris,T.B., Hofman,A., Imboden,M., James,A.L., Khaw,K.T., Lahousse,L., Launer,L.J., Litonjua,A., Liu,Y., Lohman,K.K., Lomas,D.A., Lumley,T., Marciante,K.D., McArdle,W.L., Meibohm,B., Morrison,A.C., Musk,A.W., Myers,R.H., North,K.E., Postma,D.S., Psaty,B.M., Rich,S.S., Rivadeneira,F., Rochat,T., Rotter,J.I., Artigas,M.S., Starr,J.M., Uitterlinden,A.G., Wareham,N.J., Wijmenga,C., Zanen,P., Province,M.A., Silverman,E.K., Deary,I.J., Palmer,L.J., Cassano,P.A., Gudnason,V., Barr,R.G., Loos,R.J., Strachan,D.P., London,S.J., Boezen,H.M., Probst-Hensch,N., Gharib,S.A., Hall,I.P., O'Connor,G.T., Tobin,M.D. and Stricker,B.H.
Journal Am. J. Respir. Crit. Care Med. 186 (7), 622-632 (2012)
Title Functional analysis of the novel sequence variants within TBX5 gene promoter in patients with ventricular septal defects .
Author Shan,J., Pang,S., Qiao,Y., Ma,L., Wang,H., Xing,Q., Wanyan,H., Wu,G. and Yan,B.
Journal Transl Res 160 (3), 237-238 (2012)
Title Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease .
Author Smemo,S., Campos,L.C., Moskowitz,I.P., Krieger,J.E., Pereira,A.C. and Nobrega,M.A.
Journal Hum. Mol. Genet. 21 (14), 3255-3263 (2012)
Title Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women .
Author Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V., Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C., Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F., Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M., Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A. and Borecki,I.B.
Journal PLoS Genet. 8 (5), E1002695 (2012)
Title T-box genes and the formation of vertebrate forelimb- and hindlimb specific pattern .
Author Simon,H.
Journal Cell Tissue Res. 296 (1), 57-66 (1999)
Title Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations .
Author Basson,C.T., Huang,T., Lin,R.C., Bachinsky,D.R., Weremowicz,S., Vaglio,A., Bruzzone,R., Quadrelli,R., Lerone,M., Romeo,G., Silengo,M., Pereira,A., Krieger,J., Mesquita,S.F., Kamisago,M., Morton,C.C., Pierpont,M.E., Muller,C.W., Seidman,J.G. and Seidman,C.E.
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,C.T., Bachinsky,D.R., Lin,R.C., Levi,T., Elkins,J.A., Soults,J., Grayzel,D., Kroumpouzou,E., Traill,T.A., Leblanc-Straceski,J., Renault,B., Kucherlapati,R., Seidman,J.G. and Seidman,C.E.
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,Q.Y., Newbury-Ecob,R.A., Terrett,J.A., Wilson,D.I., Curtis,A.R., Yi,C.H., Gebuhr,T., Bullen,P.J., Robson,S.C., Strachan,T., Bonnet,D., Lyonnet,S., Young,I.D., Raeburn,J.A., Buckler,A.J., Law,D.J. and Brook,J.D.
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,J.A., Newbury-Ecob,R., Cross,G.S., Fenton,I., Raeburn,J.A., Young,I.D. and Brook,J.D.
Journal Nat. Genet. 6 (4), 401-404 (1994)


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