TBX3 T-box transcription factor 3
Gene ID: 6926, updated on 5-Mar-2024Gene type: protein coding
Also known as: UMS; XHL; TBX3-ISO
- See all available tests in GTR for this gene
- Go to complete Gene record for TBX3
- Go to Variation Viewer for TBX3 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. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic correction of PSA values using sequence variants associated with PSA levels. GeneReviews: Not available | |
| Genetic determinants of P wave duration and PR segment. GeneReviews: Not available | |
| Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. GeneReviews: Not available | |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. GeneReviews: Not available | |
| Genome-wide association study of blood pressure and hypertension. GeneReviews: Not available | |
| Genome-wide association study of PR interval. GeneReviews: Not available | |
| Identification of a novel percent mammographic density locus at 12q24. GeneReviews: Not available | |
| Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. GeneReviews: Not available | |
| Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. GeneReviews: Not available | |
| Ulnar-mammary syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-09-23) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-23) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q24.21
- Sequence:
- Chromosome: 12; NC_000012.12 (114670255..114684175, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBX3 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
- TBX3 database
- Variation ViewerRelated Variants
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