TBXT

The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

TBXT Gene(Protein Coding) T-Box Transcription Factor T

Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site.

Biological Process anterior/posterior axis specification, embryoTAS:ProtInc1 Publication
Biological Process cardiac muscle cell myoblast differentiationIDA:BHF-UCL1 Publication
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process heart morphogenesisIDA:BHF-UCL1 Publication
Biological Process mesoderm developmentTAS:ProtInc1 Publication
Biological Process mesoderm formationIBA:GO_Central1 Publication
Biological Process negative regulation of DNA-binding transcription factor activityISS:BHF-UCL
Biological Process negative regulation of transcription by RNA polymerase IIISS:BHF-UCL
Biological Process positive regulation of transcription by RNA polymerase IIIDA:BHF-UCL1 Publication
Biological Process primitive streak formationNAS:BHF-UCL1 Publication
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process signal transductionNAS:ProtInc1 Publication
Biological Process somitogenesisIBA:GO_Central1 Publication

Nucleus

Neural tube defects (NTD):
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Chordoma (CHDM):
Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread.
Sacral agenesis with vertebral anomalies (SAVA):
A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development.