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Homo sapiens T-box 4 (TBX4), mRNA.


RefSeq Accession Definition Services Price Order
NM_018488 Homo sapiens T-box 4 (TBX4), mRNA. ORF Sequence $475.02
Peptide Services
Antibody Services
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RefSeq Version NM_018488.2, 18129689
Length 2470 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens T-box 4 (TBX4), mRNA.
Product T-box transcription factor TBX4
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 the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008].

RefSeq NP_060958.2
CDS 46..1683
Misc Feature(1)241..810
Misc Feature(2)241..810
Misc Feature(3)271..792
Misc Feature(4)order(307..309,313..330,334..336,421..423,571..573,
Misc Feature(5)order(379..381,508..516,646..648)
Exon (1)1..231
Gene:TBX4
Gene Synonym:SPS
Exon (2)232..326
Gene:TBX4
Gene Synonym:SPS
Exon (3)327..446
Gene:TBX4
Gene Synonym:SPS
Exon (4)447..594
Gene:TBX4
Gene Synonym:SPS
Exon (5)595..747
Gene:TBX4
Gene Synonym:SPS
Exon (6)748..836
Gene:TBX4
Gene Synonym:SPS
Exon (7)837..1066
Gene:TBX4
Gene Synonym:SPS
Exon (8)1067..2470
Gene:TBX4
Gene Synonym:SPS
Translation MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAA EQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIV PADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDP FGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQAL QHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSS VGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMW TSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQS QVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVE NWTDG
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Position Chain Variation Link
61+a, gdbSNP:117410176
62+c, gdbSNP:3744448
149+c, tdbSNP:148424252
220+a, gdbSNP:80164240
229+c, tdbSNP:104894648
279+dbSNP:
279+g, tdbSNP:182844772
294+a, gdbSNP:35070263
321+a, cdbSNP:3744447
361+dbSNP:
361+a, gdbSNP:200429513
404+a, gdbSNP:200977400
411+c, tdbSNP:199796272
444+a, tdbSNP:147644451
532+dbSNP:
532+a, cdbSNP:141536152
618+dbSNP:
618+g, tdbSNP:199562610
639+c, tdbSNP:147048921
640+a, gdbSNP:151058527
657+c, tdbSNP:140971014
666+c, tdbSNP:150224277
667+a, gdbSNP:78640841
697+a, gdbSNP:201328365
788+dbSNP:
788+g, tdbSNP:28938474
817+c, tdbSNP:138858259
825+c, tdbSNP:34495182
849+dbSNP:
849+c, tdbSNP:145889644
889+c, tdbSNP:73334576
902+c, tdbSNP:201395852
907+c, gdbSNP:193204039
921+c, tdbSNP:142327430
928+a, gdbSNP:143895322
960+c, tdbSNP:148616062
966+c, tdbSNP:141188668
972+a, gdbSNP:113899943
977+c, tdbSNP:202061937
986+a, gdbSNP:3744438
987+a, gdbSNP:201565504
992+c, tdbSNP:200387033
1008+a, cdbSNP:199780097
1030+a, gdbSNP:150233337
1073+dbSNP:
1073+a, cdbSNP:139626296
1076+a, gdbSNP:200962877
1090+c, gdbSNP:145267704
1100+c, gdbSNP:61739275
1115+c, tdbSNP:147641113
1116+c, tdbSNP:115169711
1124+c, tdbSNP:149749116
1125+a, gdbSNP:200518950
1128+c, gdbSNP:61739274
1155+c, g, tdbSNP:140385970
1156+a, cdbSNP:199727670
1157+c, gdbSNP:143267075
1252+a, gdbSNP:146829316
1259+c, gdbSNP:140662248
1262+g, tdbSNP:145825881
1269+c, tdbSNP:7218485
1287+a, gdbSNP:143027472
1296+c, tdbSNP:150277085
1305+a, gdbSNP:138356325
1372+c, tdbSNP:149248181
1386+c, tdbSNP:199998292
1422+c, tdbSNP:200860672
1454+a, gdbSNP:75619997
1491+a, gdbSNP:2270150
1493+a, gdbSNP:139609877
1509+a, c, tdbSNP:143608018
1518+c, tdbSNP:147183215
1531+a, gdbSNP:140527546
1557+a, gdbSNP:117324438
1566+a, gdbSNP:188952741
1570+c, tdbSNP:181321459
1621+c, tdbSNP:200436565
1626+a, cdbSNP:151223901
1637+a, gdbSNP:28936696
1690+c, tdbSNP:149961771
1707+c, tdbSNP:144878479
1708+a, gdbSNP:185650741
1780..1781+, gtgtgtgtdbSNP:149977669
1781..1782+, gt, gtgtgtgtgtdbSNP:72043471
1782..1783+, tgdbSNP:71885970
1782+a, tdbSNP:79894176
1784..1785+, tgtgtgtgdbSNP:72016940
1820..1821+, gt, gtgtgtgtdbSNP:60535903
1820..1821+, tadbSNP:144217051
1821+a, gdbSNP:77924694
1826+c, tdbSNP:149034024
1831+a, gdbSNP:111840354
1953+c, tdbSNP:138718626
1996+a, cdbSNP:141279587
2010+a, gdbSNP:58804550
2089+c, tdbSNP:77786466
2125+g, tdbSNP:180857223
2339+c, tdbSNP:187653934
2388+, gdbSNP:111608426
2390+a, cdbSNP:3744437
2391+, adbSNP:3833137
2442+a, gdbSNP:59569849
2449+a, cdbSNP:191996071
2455+c, tdbSNP:183868550
Gene SymbolTBX4
Gene SynonymSPS
Chromosome17
Locus Map17q21-q22
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_018488 Homo sapiens T-box 4 (TBX4), mRNA. Full Length $716.30
ORF Sequence $475.02
Title Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot .
Author Lu,W., Bacino,C.A., Richards,B.S., Alvarez,C., VanderMeer,J.E., Vella,M., Ahituv,N., Sikka,N., Dietz,F.R., Blanton,S.H. and Hecht,J.T.
Journal Am. J. Med. Genet. A 158A (7), 1620-1627 (2012)
Title Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension .
Author Nimmakayalu,M., Major,H., Sheffield,V., Solomon,D.H., Smith,R.J., Patil,S.R. and Shchelochkov,O.A.
Journal Am. J. Med. Genet. A 155A (2), 418-423 (2011)
Title Association of a single nucleotide polymorphism in Tbx4 with developmental dysplasia of the hip: a case-control study .
Author Wang,K., Shi,D., Zhu,P., Dai,J., Zhu,L., Zhu,H., Lv,Y., Zhao,B. and Jiang,Q.
Journal Osteoarthr. Cartil. 18 (12), 1592-1595 (2010)
Title Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia .
Author Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
Journal PLoS ONE 5 (7), E11493 (2010)
Title The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature .
Author Zhao,J., Li,M., Bradfield,J.P., Zhang,H., Mentch,F.D., Wang,K., Sleiman,P.M., Kim,C.E., Glessner,J.T., Hou,C., Keating,B.J., Thomas,K.A., Garris,M.L., Deliard,S., Frackelton,E.C., Otieno,F.G., Chiavacci,R.M., Berkowitz,R.I., Hakonarson,H. and Grant,S.F.
Journal BMC Med. Genet. 11, 96 (2010)
Title Many sequence variants affecting diversity of adult human height .
Author Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H., Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S., Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A., Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H., Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T., Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M., Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C., Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A., Thorsteinsdottir,U. and Stefansson,K.
Journal Nat. Genet. 40 (5), 609-615 (2008)
Title Functional proteomics mapping of a human signaling pathway .
Author Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C., Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
Journal Genome Res. 14 (7), 1324-1332 (2004)
Title Mutations in the human TBX4 gene cause small patella syndrome .
Author Bongers,E.M., Duijf,P.H., van Beersum,S.E., Schoots,J., Van Kampen,A., Burckhardt,A., Hamel,B.C., Losan,F., Hoefsloot,L.H., Yntema,H.G., Knoers,N.V. and van Bokhoven,H.
Journal Am. J. Hum. Genet. 74 (6), 1239-1248 (2004)
Title Virtual cloning and physical mapping of a human T-box gene, TBX4 .
Author Yi,C.H., Russ,A. and Brook,J.D.
Journal Genomics 67 (1), 92-95 (2000)
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)

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