TOX high mobility group box family member 2 (TOX2)

TOX high mobility group box family member 2 (TOX2) is a protein-coding transcription factor of the high mobility group box (HMG-box) family. TOX2 binds chromatin and functions primarily in the nucleus as a regulator of gene expression, particularly in the positive regulation of transcription by RNA polymerase II. It is preferentially expressed in mature human natural killer (NK) cells and is essential for the late stages of human NK cell development, acting by specifically and directly upregulating the transcription of TBX21 (encoding T-BET), a master transcription factor critical for NK cell maturation and cytotoxic function. TOX2's expression pattern is largely distinct from other family members: it is expressed during later stages of NK cell maturation and not in early NK progenitors. Its deficiency impairs NK cell maturation, notably by reducing T-BET and perforin expression, suggesting a central role in immune homeostasis. TOX2 has also been reported to have expression in reproductive and neural tissues, and is associated with some disease phenotypes, notably cancer pathways (including clear cell renal cell carcinoma) and age-related macular degeneration. Its function as a transcription factor may provide future opportunities for therapeutic modulation, although it is not currently considered a direct therapeutic target for any known drugs.

Other names

C20orf100GCX1GCX-1dJ1108D11.2dJ495O3.1Granulosa cell HMG box protein 1granulosa cell HMG box 1