PAX5 gene

The PAX5 gene is a protein-coding gene located on chromosome 9p13. The gene encodes a member of the PAX (Paired Box- PAX5 protein) family of transcription factors. Related signaling pathways include transcriptional misregulation in maligenic tumors and NF-kappaB signaling. An important paralog of this gene is PAX2.

The central feature of this gene family is a novel, highly conserved DNA-binding motif known as paired box. Paired-box transcription factors are important regulators in the early development of B cells. The PAX5 gene encodes an activator protein specific to the B cell lineage that is expressed at early, but not late, stages of B cell differentiation. Its expression has also been detected in the developing CNS and testes. It is suggested that the encoded protein may also play a role in neuronal development and spermatogenesis. t(9; 14)(p13;q32) translocations can occur in small cell lymphocytic lymphomas of the plasmocytic subtype and in derived large cell lymphomas.

1. Holmes ML et al (2008) The regulation of the B-cell gene expression program by Pax5. Immunol Cell Biol 86:47-53.
2. Lopez A et al (2018) Plasmablastic lymphoma: current perspectives. Blood Lymphat Cancer 8:63-70.