POU Domain Class 6 Transcription Factor 2 (POU6F2)
RPF-1; Retina-Derived POU-Domain Factor-1
encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.POU6F2 gene contains at least 10 exons and encompasses over 125 kb. Sequence analysis revealed 4 positions at which alternate splicing occurs, potentially generating multiple transcripts.