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. 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]

Description

T-box transcription factor T

Tissue specificity

Group enriched (parathyroid gland, pituitary gland)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

6 (166157656 - 166168700)

Ensembl ID

ENSG00000164458  (ver. 103.38)

Orthologs

Mouse T: ENSMUSG00000062327

UniProt

O15178

neXtProt

NX_O15178

Human splice variants
Mouse splice variants

Protein structure