TBX6 T-box transcription factor 6
Gene ID: 6911, updated on 10-Oct-2024Gene type: protein coding
Also known as: SCDO5
- See all available tests in GTR for this gene
- Go to complete Gene record for TBX6
- Go to Variation Viewer for TBX6 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Spondylocostal dysostosis 5 | See labs |
Genomic context
- Location:
- 16p11.2
- Sequence:
- Chromosome: 16; NC_000016.10 (30085793..30091924, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBX6 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
- TBX6 database
- Variation ViewerRelated Variants
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