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TBX5 cDNA ORF clone, Homo sapiens (human)

Gene Symbol TBX5
Entrez Gene ID 6910
Full Name T-box 5
Synonyms HOS
General protein information
Preferred Names
T-box transcription factor TBX5
Names
T-box transcription factor TBX5
T-box protein 5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12q24.1

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]. lac of sum
Disorder MIM:

601620

Disorder Html: Holt-Oram syndrome, 142900 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_000192 NP_000183 T-box transcription factor TBX5 isoform 1
NM_080717 NP_542448 T-box transcription factor TBX5 isoform 3
NM_181486 NP_852259 T-box transcription factor TBX5 isoform 1



Homo sapiens (human) TBX5 NP_000183.2
Pan troglodytes (chimpanzee) TBX5 XP_001154140.2
Macaca mulatta (Rhesus monkey) TBX5 XP_001111737.1
Canis lupus familiaris (dog) TBX5 XP_005636327.1
Bos taurus (cattle) TBX5 NP_001179678.1
Mus musculus (house mouse) Tbx5 NP_035667.1
Rattus norvegicus (Norway rat) Tbx5 NP_001009964.1
Gallus gallus (chicken) TBX5 NP_989504.1
Danio rerio (zebrafish) tbx5a NP_570990.1
Xenopus (Silurana) tropicalis (western clawed frog) tbx5 NP_001185697.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following TBX5 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the TBX5 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu20722
NM_000192 Homo sapiens T-box 5 (TBX5), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00
OHu21706
NM_080717 Homo sapiens T-box 5 (TBX5), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$194.50-$272.30
$389.00
OHu20722
NM_181486 Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu20722
Clone ID Related Accession (Same CDS sequence) NM_000192 , NM_181486
Accession Version NM_000192.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1557bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product T-box transcription factor TBX5 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF221714.1, DA863182.1, AC009260.13 and BC027942.1. This sequence is a reference standard in the RefSeqGene project. On Jun 12, 2003 this sequence version replaced gi:18201891. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF221714.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGGCCGACG CAGACGAGGG CTTTGGCCTG GCGCACACGC CTCTGGAGCC TGACGCAAAA 
GACCTGCCCT GCGATTCGAA ACCCGAGAGC GCGCTCGGGG CCCCCAGCAA GTCCCCGTCG
TCCCCGCAGG CCGCCTTCAC CCAGCAGGGC ATGGAGGGAA TCAAAGTGTT TCTCCATGAA
AGAGAACTGT GGCTAAAATT CCACGAAGTG GGCACGGAAA TGATCATAAC CAAGGCTGGA
AGGCGGATGT TTCCCAGTTA CAAAGTGAAG GTGACGGGCC TTAATCCCAA AACGAAGTAC
ATTCTTCTCA TGGACATTGT ACCTGCCGAC GATCACAGAT ACAAATTCGC AGATAATAAA
TGGTCTGTGA CGGGCAAAGC TGAGCCCGCC ATGCCTGGCC GCCTGTACGT GCACCCAGAC
TCCCCCGCCA CCGGGGCGCA TTGGATGAGG CAGCTCGTCT CCTTCCAGAA ACTCAAGCTC
ACCAACAACC ACCTGGACCC ATTTGGGCAT ATTATTCTAA ATTCCATGCA CAAATACCAG
CCTAGATTAC ACATCGTGAA AGCGGATGAA AATAATGGAT TTGGCTCAAA AAATACAGCG
TTCTGCACTC ACGTCTTTCC TGAGACTGCG TTTATAGCAG TGACTTCCTA CCAGAACCAC
AAGATCACGC AATTAAAGAT TGAGAATAAT CCCTTTGCCA AAGGATTTCG GGGCAGTGAT
GACATGGAGC TGCACAGAAT GTCAAGAATG CAAAGTAAAG AATATCCCGT GGTCCCCAGG
AGCACCGTGA GGCAAAAAGT GGCCTCCAAC CACAGTCCTT TCAGCAGCGA GTCTCGAGCT
CTCTCCACCT CATCCAATTT GGGGTCCCAA TACCAGTGTG AGAATGGTGT TTCCGGCCCC
TCCCAGGACC TCCTGCCTCC ACCCAACCCA TACCCACTGC CCCAGGAGCA TAGCCAAATT
TACCATTGTA CCAAGAGGAA AGAGGAAGAA TGTTCCACCA CAGACCATCC CTATAAGAAG
CCCTACATGG AGACATCACC CAGTGAAGAA GATTCCTTCT ACCGCTCTAG CTATCCACAG
CAGCAGGGCC TGGGTGCCTC CTACAGGACA GAGTCGGCAC AGCGGCAAGC TTGCATGTAT
GCCAGCTCTG CGCCCCCCAG CGAGCCTGTG CCCAGCCTAG AGGACATCAG CTGCAACACG
TGGCCAAGCA TGCCTTCCTA CAGCAGCTGC ACCGTCACCA CCGTGCAGCC CATGGACAGG
CTACCCTACC AGCACTTCTC CGCTCACTTC ACCTCGGGGC CCCTGGTCCC TCGGCTGGCT
GGCATGGCCA ACCATGGCTC CCCACAGCTG GGAGAGGGAA TGTTCCAGCA CCAGACCTCC
GTGGCCCACC AGCCTGTGGT CAGGCAGTGT GGGCCTCAGA CTGGCCTGCA GTCCCCTGGC
ACCCTTCAGC CCCCTGAGTT CCTCTACTCT CATGGCGTGC CAAGGACTCT ATCCCCTCAT
CAGTACCACT CTGTGCACGG AGTTGGCATG GTGCCAGAGT GGAGCGACAA TAGCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000183.2
CDS668..2224
Misc Feature(1)440..442(+)
Misc Feature(2)824..1390(+)
Misc Feature(3)890..1381(+)
Misc Feature(4)962..1231(+)
Exon (1)1..629
Gene:TBX5
Gene Synonym:
Exon (2)630..814
Gene:TBX5
Gene Synonym:
Exon (3)815..909
Gene:TBX5
Gene Synonym:
Exon (4)910..1029
Gene:TBX5
Gene Synonym:
Exon (5)1030..1177
Gene:TBX5
Gene Synonym:
Exon (6)1178..1330
Gene:TBX5
Gene Synonym:
Exon (7)1331..1422
Gene:TBX5
Gene Synonym:
Exon (8)1423..1649
Gene:TBX5
Gene Synonym:
Exon (9)1650..3826
Gene:TBX5
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000192
Organism Homo sapiens (human)
Definition Homo sapiens T-box 5 (TBX5), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000192

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGGCCGACG CAGACGAGGG CTTTGGCCTG GCGCACACGC CTCTGGAGCC TGACGCAAAA 
GACCTGCCCT GCGATTCGAA ACCCGAGAGC GCGCTCGGGG CCCCCAGCAA GTCCCCGTCG
TCCCCGCAGG CCGCCTTCAC CCAGCAGGGC ATGGAGGGAA TCAAAGTGTT TCTCCATGAA
AGAGAACTGT GGCTAAAATT CCACGAAGTG GGCACGGAAA TGATCATAAC CAAGGCTGGA
AGGCGGATGT TTCCCAGTTA CAAAGTGAAG GTGACGGGCC TTAATCCCAA AACGAAGTAC
ATTCTTCTCA TGGACATTGT ACCTGCCGAC GATCACAGAT ACAAATTCGC AGATAATAAA
TGGTCTGTGA CGGGCAAAGC TGAGCCCGCC ATGCCTGGCC GCCTGTACGT GCACCCAGAC
TCCCCCGCCA CCGGGGCGCA TTGGATGAGG CAGCTCGTCT CCTTCCAGAA ACTCAAGCTC
ACCAACAACC ACCTGGACCC ATTTGGGCAT ATTATTCTAA ATTCCATGCA CAAATACCAG
CCTAGATTAC ACATCGTGAA AGCGGATGAA AATAATGGAT TTGGCTCAAA AAATACAGCG
TTCTGCACTC ACGTCTTTCC TGAGACTGCG TTTATAGCAG TGACTTCCTA CCAGAACCAC
AAGATCACGC AATTAAAGAT TGAGAATAAT CCCTTTGCCA AAGGATTTCG GGGCAGTGAT
GACATGGAGC TGCACAGAAT GTCAAGAATG CAAAGTAAAG AATATCCCGT GGTCCCCAGG
AGCACCGTGA GGCAAAAAGT GGCCTCCAAC CACAGTCCTT TCAGCAGCGA GTCTCGAGCT
CTCTCCACCT CATCCAATTT GGGGTCCCAA TACCAGTGTG AGAATGGTGT TTCCGGCCCC
TCCCAGGACC TCCTGCCTCC ACCCAACCCA TACCCACTGC CCCAGGAGCA TAGCCAAATT
TACCATTGTA CCAAGAGGAA AGAGGAAGAA TGTTCCACCA CAGACCATCC CTATAAGAAG
CCCTACATGG AGACATCACC CAGTGAAGAA GATTCCTTCT ACCGCTCTAG CTATCCACAG
CAGCAGGGCC TGGGTGCCTC CTACAGGACA GAGTCGGCAC AGCGGCAAGC TTGCATGTAT
GCCAGCTCTG CGCCCCCCAG CGAGCCTGTG CCCAGCCTAG AGGACATCAG CTGCAACACG
TGGCCAAGCA TGCCTTCCTA CAGCAGCTGC ACCGTCACCA CCGTGCAGCC CATGGACAGG
CTACCCTACC AGCACTTCTC CGCTCACTTC ACCTCGGGGC CCCTGGTCCC TCGGCTGGCT
GGCATGGCCA ACCATGGCTC CCCACAGCTG GGAGAGGGAA TGTTCCAGCA CCAGACCTCC
GTGGCCCACC AGCCTGTGGT CAGGCAGTGT GGGCCTCAGA CTGGCCTGCA GTCCCCTGGC
ACCCTTCAGC CCCCTGAGTT CCTCTACTCT CATGGCGTGC CAAGGACTCT ATCCCCTCAT
CAGTACCACT CTGTGCACGG AGTTGGCATG GTGCCAGAGT GGAGCGACAA TAGCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu21706
Clone ID Related Accession (Same CDS sequence) NM_080717
Accession Version NM_080717.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1407bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product T-box transcription factor TBX5 isoform 3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF221714.1, AB051068.1, AC009260.13 and BC027942.1. On Jun 12, 2003 this sequence version replaced gi:18201893. Transcript Variant: This variant (3) lacks the exon containing the translation start site compared to transcript variant 1. The resulting isoform (3) is shorter at the N-terminus compared to 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB051068.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
ATGGAGGGAA TCAAAGTGTT TCTCCATGAA AGAGAACTGT GGCTAAAATT CCACGAAGTG 
GGCACGGAAA TGATCATAAC CAAGGCTGGA AGGCGGATGT TTCCCAGTTA CAAAGTGAAG
GTGACGGGCC TTAATCCCAA AACGAAGTAC ATTCTTCTCA TGGACATTGT ACCTGCCGAC
GATCACAGAT ACAAATTCGC AGATAATAAA TGGTCTGTGA CGGGCAAAGC TGAGCCCGCC
ATGCCTGGCC GCCTGTACGT GCACCCAGAC TCCCCCGCCA CCGGGGCGCA TTGGATGAGG
CAGCTCGTCT CCTTCCAGAA ACTCAAGCTC ACCAACAACC ACCTGGACCC ATTTGGGCAT
ATTATTCTAA ATTCCATGCA CAAATACCAG CCTAGATTAC ACATCGTGAA AGCGGATGAA
AATAATGGAT TTGGCTCAAA AAATACAGCG TTCTGCACTC ACGTCTTTCC TGAGACTGCG
TTTATAGCAG TGACTTCCTA CCAGAACCAC AAGATCACGC AATTAAAGAT TGAGAATAAT
CCCTTTGCCA AAGGATTTCG GGGCAGTGAT GACATGGAGC TGCACAGAAT GTCAAGAATG
CAAAGTAAAG AATATCCCGT GGTCCCCAGG AGCACCGTGA GGCAAAAAGT GGCCTCCAAC
CACAGTCCTT TCAGCAGCGA GTCTCGAGCT CTCTCCACCT CATCCAATTT GGGGTCCCAA
TACCAGTGTG AGAATGGTGT TTCCGGCCCC TCCCAGGACC TCCTGCCTCC ACCCAACCCA
TACCCACTGC CCCAGGAGCA TAGCCAAATT TACCATTGTA CCAAGAGGAA AGAGGAAGAA
TGTTCCACCA CAGACCATCC CTATAAGAAG CCCTACATGG AGACATCACC CAGTGAAGAA
GATTCCTTCT ACCGCTCTAG CTATCCACAG CAGCAGGGCC TGGGTGCCTC CTACAGGACA
GAGTCGGCAC AGCGGCAAGC TTGCATGTAT GCCAGCTCTG CGCCCCCCAG CGAGCCTGTG
CCCAGCCTAG AGGACATCAG CTGCAACACG TGGCCAAGCA TGCCTTCCTA CAGCAGCTGC
ACCGTCACCA CCGTGCAGCC CATGGACAGG CTACCCTACC AGCACTTCTC CGCTCACTTC
ACCTCGGGGC CCCTGGTCCC TCGGCTGGCT GGCATGGCCA ACCATGGCTC CCCACAGCTG
GGAGAGGGAA TGTTCCAGCA CCAGACCTCC GTGGCCCACC AGCCTGTGGT CAGGCAGTGT
GGGCCTCAGA CTGGCCTGCA GTCCCCTGGC ACCCTTCAGC CCCCTGAGTT CCTCTACTCT
CATGGCGTGC CAAGGACTCT ATCCCCTCAT CAGTACCACT CTGTGCACGG AGTTGGCATG
GTGCCAGAGT GGAGCGACAA TAGCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_542448.1
CDS633..2039
Misc Feature(1)621..623(+)
Misc Feature(2)639..1205(+)
Misc Feature(3)705..1196(+)
Misc Feature(4)777..1046(+)
Exon (1)1..629
Gene:TBX5
Gene Synonym:
Exon (2)630..724
Gene:TBX5
Gene Synonym:
Exon (3)725..844
Gene:TBX5
Gene Synonym:
Exon (4)845..992
Gene:TBX5
Gene Synonym:
Exon (5)993..1145
Gene:TBX5
Gene Synonym:
Exon (6)1146..1237
Gene:TBX5
Gene Synonym:
Exon (7)1238..1464
Gene:TBX5
Gene Synonym:
Exon (8)1465..3641
Gene:TBX5
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_080717
Organism Homo sapiens (human)
Definition Homo sapiens T-box 5 (TBX5), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_080717

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
ATGGAGGGAA TCAAAGTGTT TCTCCATGAA AGAGAACTGT GGCTAAAATT CCACGAAGTG 
GGCACGGAAA TGATCATAAC CAAGGCTGGA AGGCGGATGT TTCCCAGTTA CAAAGTGAAG
GTGACGGGCC TTAATCCCAA AACGAAGTAC ATTCTTCTCA TGGACATTGT ACCTGCCGAC
GATCACAGAT ACAAATTCGC AGATAATAAA TGGTCTGTGA CGGGCAAAGC TGAGCCCGCC
ATGCCTGGCC GCCTGTACGT GCACCCAGAC TCCCCCGCCA CCGGGGCGCA TTGGATGAGG
CAGCTCGTCT CCTTCCAGAA ACTCAAGCTC ACCAACAACC ACCTGGACCC ATTTGGGCAT
ATTATTCTAA ATTCCATGCA CAAATACCAG CCTAGATTAC ACATCGTGAA AGCGGATGAA
AATAATGGAT TTGGCTCAAA AAATACAGCG TTCTGCACTC ACGTCTTTCC TGAGACTGCG
TTTATAGCAG TGACTTCCTA CCAGAACCAC AAGATCACGC AATTAAAGAT TGAGAATAAT
CCCTTTGCCA AAGGATTTCG GGGCAGTGAT GACATGGAGC TGCACAGAAT GTCAAGAATG
CAAAGTAAAG AATATCCCGT GGTCCCCAGG AGCACCGTGA GGCAAAAAGT GGCCTCCAAC
CACAGTCCTT TCAGCAGCGA GTCTCGAGCT CTCTCCACCT CATCCAATTT GGGGTCCCAA
TACCAGTGTG AGAATGGTGT TTCCGGCCCC TCCCAGGACC TCCTGCCTCC ACCCAACCCA
TACCCACTGC CCCAGGAGCA TAGCCAAATT TACCATTGTA CCAAGAGGAA AGAGGAAGAA
TGTTCCACCA CAGACCATCC CTATAAGAAG CCCTACATGG AGACATCACC CAGTGAAGAA
GATTCCTTCT ACCGCTCTAG CTATCCACAG CAGCAGGGCC TGGGTGCCTC CTACAGGACA
GAGTCGGCAC AGCGGCAAGC TTGCATGTAT GCCAGCTCTG CGCCCCCCAG CGAGCCTGTG
CCCAGCCTAG AGGACATCAG CTGCAACACG TGGCCAAGCA TGCCTTCCTA CAGCAGCTGC
ACCGTCACCA CCGTGCAGCC CATGGACAGG CTACCCTACC AGCACTTCTC CGCTCACTTC
ACCTCGGGGC CCCTGGTCCC TCGGCTGGCT GGCATGGCCA ACCATGGCTC CCCACAGCTG
GGAGAGGGAA TGTTCCAGCA CCAGACCTCC GTGGCCCACC AGCCTGTGGT CAGGCAGTGT
GGGCCTCAGA CTGGCCTGCA GTCCCCTGGC ACCCTTCAGC CCCCTGAGTT CCTCTACTCT
CATGGCGTGC CAAGGACTCT ATCCCCTCAT CAGTACCACT CTGTGCACGG AGTTGGCATG
GTGCCAGAGT GGAGCGACAA TAGCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu20722
Clone ID Related Accession (Same CDS sequence) NM_000192 , NM_181486
Accession Version NM_181486.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1557bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product T-box transcription factor TBX5 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CB960757.1, BC027942.1 and AC009260.13. On May 12, 2012 this sequence version replaced gi:31652231. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027942.1, AK290611.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGGCCGACG CAGACGAGGG CTTTGGCCTG GCGCACACGC CTCTGGAGCC TGACGCAAAA 
GACCTGCCCT GCGATTCGAA ACCCGAGAGC GCGCTCGGGG CCCCCAGCAA GTCCCCGTCG
TCCCCGCAGG CCGCCTTCAC CCAGCAGGGC ATGGAGGGAA TCAAAGTGTT TCTCCATGAA
AGAGAACTGT GGCTAAAATT CCACGAAGTG GGCACGGAAA TGATCATAAC CAAGGCTGGA
AGGCGGATGT TTCCCAGTTA CAAAGTGAAG GTGACGGGCC TTAATCCCAA AACGAAGTAC
ATTCTTCTCA TGGACATTGT ACCTGCCGAC GATCACAGAT ACAAATTCGC AGATAATAAA
TGGTCTGTGA CGGGCAAAGC TGAGCCCGCC ATGCCTGGCC GCCTGTACGT GCACCCAGAC
TCCCCCGCCA CCGGGGCGCA TTGGATGAGG CAGCTCGTCT CCTTCCAGAA ACTCAAGCTC
ACCAACAACC ACCTGGACCC ATTTGGGCAT ATTATTCTAA ATTCCATGCA CAAATACCAG
CCTAGATTAC ACATCGTGAA AGCGGATGAA AATAATGGAT TTGGCTCAAA AAATACAGCG
TTCTGCACTC ACGTCTTTCC TGAGACTGCG TTTATAGCAG TGACTTCCTA CCAGAACCAC
AAGATCACGC AATTAAAGAT TGAGAATAAT CCCTTTGCCA AAGGATTTCG GGGCAGTGAT
GACATGGAGC TGCACAGAAT GTCAAGAATG CAAAGTAAAG AATATCCCGT GGTCCCCAGG
AGCACCGTGA GGCAAAAAGT GGCCTCCAAC CACAGTCCTT TCAGCAGCGA GTCTCGAGCT
CTCTCCACCT CATCCAATTT GGGGTCCCAA TACCAGTGTG AGAATGGTGT TTCCGGCCCC
TCCCAGGACC TCCTGCCTCC ACCCAACCCA TACCCACTGC CCCAGGAGCA TAGCCAAATT
TACCATTGTA CCAAGAGGAA AGAGGAAGAA TGTTCCACCA CAGACCATCC CTATAAGAAG
CCCTACATGG AGACATCACC CAGTGAAGAA GATTCCTTCT ACCGCTCTAG CTATCCACAG
CAGCAGGGCC TGGGTGCCTC CTACAGGACA GAGTCGGCAC AGCGGCAAGC TTGCATGTAT
GCCAGCTCTG CGCCCCCCAG CGAGCCTGTG CCCAGCCTAG AGGACATCAG CTGCAACACG
TGGCCAAGCA TGCCTTCCTA CAGCAGCTGC ACCGTCACCA CCGTGCAGCC CATGGACAGG
CTACCCTACC AGCACTTCTC CGCTCACTTC ACCTCGGGGC CCCTGGTCCC TCGGCTGGCT
GGCATGGCCA ACCATGGCTC CCCACAGCTG GGAGAGGGAA TGTTCCAGCA CCAGACCTCC
GTGGCCCACC AGCCTGTGGT CAGGCAGTGT GGGCCTCAGA CTGGCCTGCA GTCCCCTGGC
ACCCTTCAGC CCCCTGAGTT CCTCTACTCT CATGGCGTGC CAAGGACTCT ATCCCCTCAT
CAGTACCACT CTGTGCACGG AGTTGGCATG GTGCCAGAGT GGAGCGACAA TAGCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_852259.1
CDS575..2131
Misc Feature(1)437..439(+)
Misc Feature(2)731..1297(+)
Misc Feature(3)797..1288(+)
Misc Feature(4)869..1138(+)
Exon (1)1..536
Gene:TBX5
Gene Synonym:
Exon (2)537..721
Gene:TBX5
Gene Synonym:
Exon (3)722..816
Gene:TBX5
Gene Synonym:
Exon (4)817..936
Gene:TBX5
Gene Synonym:
Exon (5)937..1084
Gene:TBX5
Gene Synonym:
Exon (6)1085..1237
Gene:TBX5
Gene Synonym:
Exon (7)1238..1329
Gene:TBX5
Gene Synonym:
Exon (8)1330..1556
Gene:TBX5
Gene Synonym:
Exon (9)1557..3733
Gene:TBX5
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_181486
Organism Homo sapiens (human)
Definition Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_181486

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGGCCGACG CAGACGAGGG CTTTGGCCTG GCGCACACGC CTCTGGAGCC TGACGCAAAA 
GACCTGCCCT GCGATTCGAA ACCCGAGAGC GCGCTCGGGG CCCCCAGCAA GTCCCCGTCG
TCCCCGCAGG CCGCCTTCAC CCAGCAGGGC ATGGAGGGAA TCAAAGTGTT TCTCCATGAA
AGAGAACTGT GGCTAAAATT CCACGAAGTG GGCACGGAAA TGATCATAAC CAAGGCTGGA
AGGCGGATGT TTCCCAGTTA CAAAGTGAAG GTGACGGGCC TTAATCCCAA AACGAAGTAC
ATTCTTCTCA TGGACATTGT ACCTGCCGAC GATCACAGAT ACAAATTCGC AGATAATAAA
TGGTCTGTGA CGGGCAAAGC TGAGCCCGCC ATGCCTGGCC GCCTGTACGT GCACCCAGAC
TCCCCCGCCA CCGGGGCGCA TTGGATGAGG CAGCTCGTCT CCTTCCAGAA ACTCAAGCTC
ACCAACAACC ACCTGGACCC ATTTGGGCAT ATTATTCTAA ATTCCATGCA CAAATACCAG
CCTAGATTAC ACATCGTGAA AGCGGATGAA AATAATGGAT TTGGCTCAAA AAATACAGCG
TTCTGCACTC ACGTCTTTCC TGAGACTGCG TTTATAGCAG TGACTTCCTA CCAGAACCAC
AAGATCACGC AATTAAAGAT TGAGAATAAT CCCTTTGCCA AAGGATTTCG GGGCAGTGAT
GACATGGAGC TGCACAGAAT GTCAAGAATG CAAAGTAAAG AATATCCCGT GGTCCCCAGG
AGCACCGTGA GGCAAAAAGT GGCCTCCAAC CACAGTCCTT TCAGCAGCGA GTCTCGAGCT
CTCTCCACCT CATCCAATTT GGGGTCCCAA TACCAGTGTG AGAATGGTGT TTCCGGCCCC
TCCCAGGACC TCCTGCCTCC ACCCAACCCA TACCCACTGC CCCAGGAGCA TAGCCAAATT
TACCATTGTA CCAAGAGGAA AGAGGAAGAA TGTTCCACCA CAGACCATCC CTATAAGAAG
CCCTACATGG AGACATCACC CAGTGAAGAA GATTCCTTCT ACCGCTCTAG CTATCCACAG
CAGCAGGGCC TGGGTGCCTC CTACAGGACA GAGTCGGCAC AGCGGCAAGC TTGCATGTAT
GCCAGCTCTG CGCCCCCCAG CGAGCCTGTG CCCAGCCTAG AGGACATCAG CTGCAACACG
TGGCCAAGCA TGCCTTCCTA CAGCAGCTGC ACCGTCACCA CCGTGCAGCC CATGGACAGG
CTACCCTACC AGCACTTCTC CGCTCACTTC ACCTCGGGGC CCCTGGTCCC TCGGCTGGCT
GGCATGGCCA ACCATGGCTC CCCACAGCTG GGAGAGGGAA TGTTCCAGCA CCAGACCTCC
GTGGCCCACC AGCCTGTGGT CAGGCAGTGT GGGCCTCAGA CTGGCCTGCA GTCCCCTGGC
ACCCTTCAGC CCCCTGAGTT CCTCTACTCT CATGGCGTGC CAAGGACTCT ATCCCCTCAT
CAGTACCACT CTGTGCACGG AGTTGGCATG GTGCCAGAGT GGAGCGACAA TAGCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

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SNP rs3825214 in TBX5 is associated with lone atrial fibrillation in Chinese Han population
PLoS ONE 8 (5), E64966 (2013)
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.


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Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array
Nat. Genet. 45 (4), 385-391 (2013)
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.


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beta-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis
Cell 151 (7), 1457-1473 (2012)
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.


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Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts
Circ Cardiovasc Genet 5 (6), 639-646 (2012)
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.


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Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population
PLoS ONE 7 (12), E51954 (2012)
Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and Butte NF.


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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations
Proc. Natl. Acad. Sci. U.S.A. 96 (6), 2919-2924 (1999)
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.


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Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
Nat. Genet. 15 (1), 30-35 (1997)
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.


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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
Nat. Genet. 15 (1), 21-29 (1997)
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.


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Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q
Nat. Genet. 6 (4), 401-404 (1994)
Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID and Brook JD.


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Holt-Oram Syndrome
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
McDermott,D.A., Fong,J.C. and Basson,C.T.


 
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