TBX3

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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

TBX3 Gene(Protein Coding) T-Box 3

Transcriptional repressor involved in developmental processes (PubMed:10468588).
Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:12000749).
Probably plays a role in limb pattern formation (PubMed:10468588).
Required for mammary placode induction, and maintenance of the mammary buds during development (By similarity).
Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2 (By similarity).
Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity).
Involved in modulating early inner ear development, acting independently of, and also redundantly with, TBX2 in different subregions of the developing ear (By similarity).
Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537).

Biological Process animal organ morphogenesisIDA:MGI1 Publication
Biological Process anterior/posterior axis specification, embryoIMP:UniProtKB1 Publication
Biological Process atrioventricular bundle cell differentiationIEA:Ensembl
Biological Process atrioventricular canal developmentISS:BHF-UCLBy Similarity
Biological Process atrioventricular canal morphogenesisISS:BHF-UCLBy Similarity
Biological Process blood vessel developmentIEA:Ensembl
Biological Process branching involved in mammary gland duct morphogenesisIEA:Ensembl
Biological Process cardiac chamber developmentIBA:GO_Central1 Publication
Biological Process cardiac epithelial to mesenchymal transitionIMP:BHF-UCL1 Publication
Biological Process cardiac jelly developmentIMP:BHF-UCL1 Publication
Biological Process cardiac muscle cell fate commitmentIEA:Ensembl
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process cellular senescenceIDA:UniProtKB1 Publication
Biological Process central nervous system developmentIBA:GO_Central1 Publication
Biological Process embryonic digit morphogenesisIMP:UniProtKB2 Publications
Biological Process embryonic forelimb morphogenesisIMP:UniProtKB1 Publication
Biological Process embryonic hindlimb morphogenesisIEA:Ensembl
Biological Process endocardial cushion formationIMP:BHF-UCL1 Publication
Biological Process female genitalia developmentIMP:UniProtKB1 Publication
Biological Process follicle-stimulating hormone secretionIMP:UniProtKB1 Publication
Biological Process forelimb morphogenesisIDA:MGI1 Publication
Biological Process heart loopingIBA:GO_Central1 Publication
Biological Process hepatoblast differentiationIEA:Ensembl
Biological Process in utero embryonic developmentIEA:Ensembl
Biological Process limbic system developmentIEA:Ensembl
Biological Process luteinizing hormone secretionIMP:UniProtKB1 Publication
Biological Process male genitalia developmentIMP:UniProtKB1 Publication
Biological Process mammary gland developmentIMP:UniProtKB1 Publication
Biological Process mammary placode formationIEA:Ensembl
Biological Process mesoderm morphogenesisIMP:UniProtKB1 Publication
Biological Process negative regulation of apoptotic processIDA:UniProtKB1 Publication
Biological Process negative regulation of cell proliferation involved in heart morphogenesisIMP:BHF-UCL1 Publication
Biological Process negative regulation of DNA-templated transcriptionIDA:UniProtKB2 Publications
Biological Process negative regulation of epithelial cell differentiationIEA:Ensembl
Biological Process negative regulation of myoblast differentiationIDA:UniProtKB1 Publication
Biological Process negative regulation of stem cell differentiationIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIIDA:NTNU_SB1 Publication
Biological Process outflow tract morphogenesisIEA:Ensembl
Biological Process positive regulation of cell cycleIDA:UniProtKB1 Publication
Biological Process positive regulation of cell population proliferationIDA:UniProtKB1 Publication
Biological Process positive regulation of stem cell proliferationIEA:Ensembl
Biological Process positive regulation of transcription by RNA polymerase IIIMP:BHF-UCL1 Publication
Biological Process regulation of protein complex stabilityIEA:Ensembl
Biological Process regulation of protein stabilityIEA:Ensembl
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process roof of mouth developmentIEA:Ensembl
Biological Process semicircular canal morphogenesisIEA:Ensembl
Biological Process sinoatrial node cell developmentIDA:BHF-UCL1 Publication
Biological Process skeletal system developmentIMP:UniProtKB1 Publication
Biological Process smooth muscle cell differentiationIEA:Ensembl
Biological Process specification of animal organ positionIEA:Ensembl
Biological Process stem cell population maintenanceIEA:Ensembl
Biological Process stem cell proliferationIEA:Ensembl
Biological Process ureteric peristalsisIEA:Ensembl
Biological Process ventricular septum morphogenesisIEA:Ensembl

Nucleus

Ulnar-mammary syndrome (UMS):
Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.