Human Gene TBX5 (ENST00000310346.8) from GENCODE V39
Description: Homo sapiens T-box transcription factor 5 (TBX5), transcript variant 1, mRNA. (from RefSeq NM_000192) RefSeq Summary (NM_000192): 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]. Gencode Transcript: ENST00000310346.8 Gencode Gene: ENSG00000089225.20 Transcript (Including UTRs) Position: hg38 chr12:114,353,931-114,408,442 Size: 54,512 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr12:114,355,532-114,403,898 Size: 48,367 Coding Exon Count: 8
ID:TBX5_HUMAN DESCRIPTION: RecName: Full=T-box transcription factor TBX5; Short=T-box protein 5; FUNCTION: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. SUBUNIT: Monomer. INTERACTION: Q08369:Gata4 (xeno); NbExp=2; IntAct=EBI-297043, EBI-297008; P52952:NKX2-5; NbExp=6; IntAct=EBI-304423, EBI-936601; SUBCELLULAR LOCATION: Nucleus (Potential). DISEASE: Defects in TBX5 are the cause of Holt-Oram syndrome (HOS) [MIM:142900]. HOS is a developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. SIMILARITY: Contains 1 T-box DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX5";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99593
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0002009 morphogenesis of an epithelium GO:0003166 bundle of His development GO:0003181 atrioventricular valve morphogenesis GO:0003197 endocardial cushion development GO:0003218 cardiac left ventricle formation GO:0003229 ventricular cardiac muscle tissue development GO:0003281 ventricular septum development GO:0003283 atrial septum development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006367 transcription initiation from RNA polymerase II promoter GO:0007267 cell-cell signaling GO:0007275 multicellular organism development GO:0007389 pattern specification process GO:0007507 heart development GO:0008285 negative regulation of cell proliferation GO:0010719 negative regulation of epithelial to mesenchymal transition GO:0030324 lung development GO:0030326 embryonic limb morphogenesis GO:0030336 negative regulation of cell migration GO:0035115 embryonic forelimb morphogenesis GO:0035136 forelimb morphogenesis GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051891 positive regulation of cardioblast differentiation GO:0055007 cardiac muscle cell differentiation GO:0060039 pericardium development GO:0060044 negative regulation of cardiac muscle cell proliferation GO:0060045 positive regulation of cardiac muscle cell proliferation GO:0060413 atrial septum morphogenesis GO:0060980 cell migration involved in coronary vasculogenesis GO:0072513 positive regulation of secondary heart field cardioblast proliferation