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].
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.
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 Jun 2, 2019 this sequence version replaced NM_181486.2.
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, DRR138524.266030.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
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 NM_000192.2.
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.
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 NM_181486.1.
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.
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 Dec 2, 2019 this sequence version replaced NM_181486.3.
Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).
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]
##Evidence-Data-END##
##RefSeq-Attributes-START##
RefSeq Select criteria :: based on manual assertion, conservation, expression
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
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 NM_080717.1.
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.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AB051068.1, AF221714.1, AC009260.13 and BC027942.1. On Jun 2, 2019 this sequence version replaced NM_080717.2.
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.
Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000012.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process
##Genome-Annotation-Data-START##
Annotation Provider :: NCBI
Annotation Status :: Updated annotation
Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205
Annotation Version :: 109.20191205
Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline
Annotation Software Version :: 8.3
Annotation Method :: Best-placed RefSeq; propagated RefSeq model
Features Annotated :: Gene; mRNA; CDS; ncRNA
##Genome-Annotation-Data-END##
User Manual
NM_181486.3
