TBX3编码蛋白是一种转录因子，其通过T-box结构域结合DNA并介导转录抑制。TBX3的转录调节对于胚胎构型、干细胞特异化、多能性的维持和器官系统发育（包括心脏传导系统、乳腺和肝脏）是重要的。TBX3表达的缺失在乳腺癌模型中对应于浸润表型的增加。TBX3在多种癌症类型中表达，并与细胞存活、与TP53通路的相互作用和肿瘤侵袭性有关。TBX3的胚系突变在Ulnar-mammary综合症中发现，导致四肢、顶浆腺、牙齿和生殖系统的缺陷。在乳腺癌中发现了TBX3的体细胞变异，并主要导致移码突变。

TBX3, a transcription factor, is altered in various cancers including breast cancer. TBX3 is a transcription factor that binds DNA using a T-box domain and mediates transcriptional repression. Transcriptional regulation by TBX3 is important for embryonic patterning, stem cell specification, maintenance of pluripotency and organ system development including the cardiac conduction system, mammary gland and liver. Loss of TBX3 expression corresponds to an increased invasive phenotype in breast cancer models. TBX3 is expressed in various cancer types and has been implicated in cell survival, interactions with the TP53 pathway and tumor invasiveness . Germline mutations in TBX3 have been identified in Ulnar-mammary syndrome leading to defects of the limbs, apocrine gland, teeth and genital systems. Somatic alterations in TBX3 have been found in breast cancer and predominantly result in frameshift mutations, suggesting loss-of-function.

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