TBX6

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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]

TBX6 Gene(Protein Coding) T-Box 6

T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity).

Biological Process anatomical structure morphogenesisTAS:ProtInc1 Publication
Biological Process cardiac chamber developmentIBA:GO_Central1 Publication
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process central nervous system developmentIBA:GO_Central1 Publication
Biological Process heart loopingIBA:GO_Central1 Publication
Biological Process mesoderm developmentTAS:ProtInc1 Publication
Biological Process mesodermal cell fate specificationIEA:Ensembl
Biological Process negative regulation of DNA-binding transcription factor activityISS:BHF-UCL
Biological Process negative regulation of neuron maturationIEA:Ensembl
Biological Process negative regulation of neuron projection developmentIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIISS:BHF-UCL
Biological Process positive regulation of cell population proliferationIBA:GO_Central1 Publication
Biological Process positive regulation of transcription by RNA polymerase IIIEA:Ensembl
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process signal transduction involved in regulation of gene expressionIEA:Ensembl
Biological Process somite rostral/caudal axis specificationIEA:Ensembl

Nucleus

Spondylocostal dysostosis 5 (SCDO5):
A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive.