N-Oct-3 is a protein belonging to a large family of transcription factors that bind to the octameric DNA sequence ATGCAAAT. Most of these proteins share a highly homologous region, referred to as the POU domain, which occurs in several mammalian transcription factors, including the octamer-binding proteins Oct1 (POU2F1; MIM 164175) and Oct2 (POU2F2; MIM 164176), and the pituitary protein Pit1 (PIT1; MIM 173110).
Class III POU genes are expressed predominantly in the CNS. It is likely that CNS-specific transcription factors such as these play an important role in mammalian neurogenesis by regulating their diverse patterns of gene expression.[5]
The POU3F2 protein associates with theBipolar disorder. It is involved in the neocortex development in mice, and is linked to a single nucleotide polymorphism,Rs1906252, that is associated with a cognitive phenotype: processing information speed.[6]
Chromosome 6q16.1 deletions resulting in loss of one copy of POU3F2 have been shown to cause a human syndrome of susceptibility to obesity and variable levels of developmental delay and Intellectual Disability.[7]
Eisen T, Easty DJ, Bennett DC, Goding CR (November 1995). "The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression".Oncogene.11 (10):2157–64.PMID7478537.
Atanasoski S, Toldo SS, Malipiero U, Schreiber E, Fries R, Fontana A (March 1995). "Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16".Genomics.26 (2):272–80.doi:10.1016/0888-7543(95)80211-4.PMID7601453.
Thomson JA, Murphy K, Baker E,Sutherland GR, Parsons PG, Sturm RA, Thomson F (August 1995). "The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells".Oncogene.11 (4):691–700.PMID7651733.
Atanasoski S, Schreiber E, Fontana A, Herr W (March 1997). "N-Oct 5 is generated by in vitro proteolysis of the neural POU-domain protein N-Oct 3".Oncogene.14 (11):1287–94.doi:10.1038/sj.onc.1200953.PMID9178889.S2CID20331599.
Smit DJ, Smith AG, Parsons PG, Muscat GE, Sturm RA (November 2000). "Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors".European Journal of Biochemistry.267 (21):6413–22.doi:10.1046/j.1432-1327.2000.01737.x.PMID11029584.
