Human Gene TBXT (ENST00000366871.7) from GENCODE V44
Description: Homo sapiens T-box transcription factor T (TBXT), transcript variant 2, mRNA. (from RefSeq NM_001270484) RefSeq Summary (NM_001270484): 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. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]. Gencode Transcript: ENST00000366871.7 Gencode Gene: ENSG00000164458.10 Transcript (Including UTRs) Position: hg38 chr6:166,157,656-166,168,700 Size: 11,045 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr6:166,158,315-166,167,591 Size: 9,277 Coding Exon Count: 7
ID:BRAC_HUMAN DESCRIPTION: RecName: Full=Brachyury protein; AltName: Full=Protein T; FUNCTION: Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site. SUBUNIT: Monomer (By similarity). SUBCELLULAR LOCATION: Nucleus. DISEASE: Genetic variations in T are associated with susceptibility to neural tube defects (NTD) [MIM:182940]. NTD are common congenital malformations. Spina bifida, which results from malformations in the caudal region of the neural tube, is compatible with life but associated with significant morbidity, including lower limb paralysis. DISEASE: T is involved in susceptibility to the development of chordoma (CHDM) [MIM:215400]. Chordomas are 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. Note=Susceptibility to development of chordomas is due to a T gene duplication. SIMILARITY: Contains 1 T-box DNA-binding domain.
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 O15178
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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.
US Server
