Overview

Location [1]
12q24.21
Protein [2]
T-box transcription factor TBX3
Synonyms [1]
TBX3-ISO, UMS, XHL

T-box 3 (TBX3) is a gene that encodes a transcriptional repressor protein that functions in the regulation of developmental processes. Missense mutations, synonymous mutations, frameshift insertions, frameshift deletions, nonsense mutations, and inframe deletions are observed in cancers such as colon cancer, skin cancer, and breast cancer.

TBX3 is altered in 2.64% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, prostate adenocarcinoma, breast invasive lobular carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

TBX3 GENIE Cases - Top Diseases

The most common alterations in TBX3 are TBX3 Mutation (1.70%), TBX3 Amplification (0.37%), TBX3 Loss (0.03%), TBX3 N212del (0.02%), and TBX3 N297del (0.01%) [3].

TBX3 GENIE Cases - Top Alterations

Significance of TBX3 in Diseases

Melanoma +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Glioblastoma +

Sarcoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

Lymphoma +

Ovarian Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.