TBX3 Back

T-box 3 (ulnar mammary syndrome)

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NCBI Description of TBX3
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.

Community Annotation of TBX3 Add / Edit TBX3: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

TBX3 is highly significantly mutated in
TBX3 is significantly mutated in
Breast
BRCA
18 patients (2%)
TBX3 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for TBX3