TBXT T-box transcription factor T
Gene ID: 6862, updated on 18-Sep-2024Gene type: protein coding
Also known as: T; TFT; SAVA
- See all available tests in GTR for this gene
- Go to complete Gene record for TBXT
- Go to Variation Viewer for TBXT variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association identifies the T gene as a novel asthma pharmacogenetic locus. GeneReviews: Not available | |
| Neural tube defect MedGen: C0027794GeneReviews: Not available | not available |
| Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | not available |
Genomic context
- Location:
- 6q27
- Sequence:
- Chromosome: 6; NC_000006.12 (166157656..166168655, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBXT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- T database
- Variation ViewerRelated Variants
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