TBX5 (gene)

TBX5 (gene)

Identifiers Symbols TBX5; HOS External IDs OMIM: 601620 MGI: 102541 HomoloGene: 160 ChEMBL: 1687681 GeneCards: TBX5 Gene

Gene Ontology
Molecular function	• RNA polymerase II regulatory region sequence-specific DNA binding • DNA binding • sequence-specific DNA binding transcription factor activity • protein binding • transcription factor binding • sequence-specific DNA binding
Cellular component	• nucleus • nucleoplasm • transcription factor complex • cytoplasm
Biological process	• morphogenesis of an epithelium • bundle of His development • atrioventricular valve morphogenesis • endocardial cushion development • cardiac left ventricle formation • ventricular cardiac muscle tissue development • ventricular septum development • atrial septum development • transcription initiation from RNA polymerase II promoter • induction of apoptosis • cell-cell signaling • pattern specification process • heart development • negative regulation of cell proliferation • gene expression • negative regulation of epithelial to mesenchymal transition • lung development • embryonic limb morphogenesis • negative regulation of cell migration • embryonic forelimb morphogenesis • forelimb morphogenesis • positive regulation of transcription, DNA-dependent • positive regulation of transcription from RNA polymerase II promoter • positive regulation of cardioblast differentiation • cardiac muscle cell differentiation • pericardium development • negative regulation of cardiac muscle cell proliferation • positive regulation of cardiac muscle cell proliferation • cell migration involved in coronary vasculogenesis
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 6910 21388 Ensembl ENSG00000089225 ENSMUSG00000018263 UniProt Q99593 P70326 RefSeq (mRNA) NM_000192 NM_011537 RefSeq (protein) NP_000183 NP_035667 Location (UCSC) Chr 12:
114.79 – 114.85 Mb Chr 5:
119.83 – 119.89 Mb PubMed search

T-box transcription factor TBX5 is a protein that in humans is encoded by the TBX5 gene.

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.