POU3F2 explained

POU domain, class 3, transcription factor 2 is a protein that in humans is encoded by the POU3F2 gene.^{[1] [2]}

Function

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.

Disease linkage

The POU3F2 protein associates with the Bipolar 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.^[3]

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.^[4]

Interactions

POU3F2 has been shown to interact with PQBP1.^[5]

See also

• Octamer transcription factor

Further reading

• Hara Y, Rovescalli AC, Kim Y, Nirenberg M . Structure and evolution of four POU domain genes expressed in mouse brain . Proceedings of the National Academy of Sciences of the United States of America . 89 . 8 . 3280–4 . April 1992 . 1565620 . 48850 . 10.1073/pnas.89.8.3280 . 1992PNAS...89.3280H . free .
• Schreiber E, Harshman K, Kemler I, Malipiero U, Schaffner W, Fontana A . Astrocytes and glioblastoma cells express novel octamer-DNA binding proteins distinct from the ubiquitous Oct-1 and B cell type Oct-2 proteins . Nucleic Acids Research . 18 . 18 . 5495–503 . September 1990 . 2216722 . 332229 . 10.1093/nar/18.18.5495 .
• He X, Treacy MN, Simmons DM, Ingraham HA, Swanson LW, Rosenfeld MG . Expression of a large family of POU-domain regulatory genes in mammalian brain development . Nature . 340 . 6228 . 35–41 . July 1989 . 2739723 . 10.1038/340035a0 . 1989Natur.340...35H . 4275887 .
• Eisen T, Easty DJ, Bennett DC, Goding CR . The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression . Oncogene . 11 . 10 . 2157–64 . November 1995 . 7478537 .
• Atanasoski S, Toldo SS, Malipiero U, Schreiber E, Fries R, Fontana A . Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16 . Genomics . 26 . 2 . 272–80 . March 1995 . 7601453 . 10.1016/0888-7543(95)80211-4 .
• Thomson JA, Murphy K, Baker E, Sutherland GR, Parsons PG, Sturm RA, Thomson F . Grant Robert Sutherland . The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells . Oncogene . 11 . 4 . 691–700 . August 1995 . 7651733 .
• Atanasoski S, Schreiber E, Fontana A, Herr W . N-Oct 5 is generated by in vitro proteolysis of the neural POU-domain protein N-Oct 3 . Oncogene . 14 . 11 . 1287–94 . March 1997 . 9178889 . 10.1038/sj.onc.1200953 . 20331599 .
• Petersenn S, Rasch AC, Heyens M, Schulte HM . Structure and regulation of the human growth hormone-releasing hormone receptor gene . Molecular Endocrinology . 12 . 2 . 233–47 . February 1998 . 9482665 . 10.1210/mend.12.2.0057 . free .
• Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I, Wegner M . Cooperative function of POU proteins and SOX proteins in glial cells . The Journal of Biological Chemistry . 273 . 26 . 16050–7 . June 1998 . 9632656 . 10.1074/jbc.273.26.16050 . free.
• Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H . PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival . Human Molecular Genetics . 8 . 6 . 977–87 . June 1999 . 10332029 . 10.1093/hmg/8.6.977 . free .
• Smit DJ, Smith AG, Parsons PG, Muscat GE, Sturm RA . Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors . European Journal of Biochemistry . 267 . 21 . 6413–22 . November 2000 . 11029584 . 10.1046/j.1432-1327.2000.01737.x .
• Jaegle M, Ghazvini M, Mandemakers W, Piirsoo M, Driegen S, Levavasseur F, Raghoenath S, Grosveld F, Meijer D . The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development . Genes & Development . 17 . 11 . 1380–91 . June 2003 . 12782656 . 196070 . 10.1101/gad.258203 .
• Goodall J, Martinozzi S, Dexter TJ, Champeval D, Carreira S, Larue L, Goding CR . Brn-2 expression controls melanoma proliferation and is directly regulated by beta-catenin . Molecular and Cellular Biology . 24 . 7 . 2915–22 . April 2004 . 15024079 . 371132 . 10.1128/MCB.24.7.2915-2922.2004 .
• Goodall J, Wellbrock C, Dexter TJ, Roberts K, Marais R, Goding CR . The Brn-2 transcription factor links activated BRAF to melanoma proliferation . Molecular and Cellular Biology . 24 . 7 . 2923–31 . April 2004 . 15024080 . 371133 . 10.1128/MCB.24.7.2923-2931.2004 .
• Cobrinik D, Francis RO, Abramson DH, Lee TC . Rb induces a proliferative arrest and curtails Brn-2 expression in retinoblastoma cells . Molecular Cancer . 5 . 1 . 72 . 2007 . 17163992 . 1764425 . 10.1186/1476-4598-5-72 . free .

Notes and References

1. Schreiber E, Tobler A, Malipiero U, Schaffner W, Fontana A . cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif . Nucleic Acids Research . 21 . 2 . 253–8 . January 1993 . 8441633 . 309100 . 10.1093/nar/21.2.253 .
2. Web site: Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2.
3. Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Forstner AJ, Schumacher J, Breuer R, Meier S, Herms S, Hoffmann P, Lacour A, Witt SH, Reif A, Müller-Myhsok B, Lucae S, Maier W, Schwarz M, Vedder H, Kammerer-Ciernioch J, Pfennig A, Bauer M, Hautzinger M, Moebus S, Priebe L, Czerski PM, Hauser J, Lissowska J, Szeszenia-Dabrowska N, Brennan P, McKay JD, Wright A, Mitchell PB, Fullerton JM, Schofield PR, Montgomery GW, Medland SE, Gordon SD, Martin NG, Krasnow V, Chuchalin A, Babadjanova G, Pantelejeva G, Abramova LI, Tiganov AS, Polonikov A, Khusnutdinova E, Alda M, Grof P, Rouleau GA, Turecki G, Laprise C, Rivas F, Mayoral F, Kogevinas M, Grigoroiu-Serbanescu M, Propping P, Becker T, Rietschel M, Nöthen MM, Cichon S . 6 . Genome-wide association study reveals two new risk loci for bipolar disorder . Nature Communications . 5 . 3339 . 2014 . 24618891 . 10.1038/ncomms4339 . 2014NatCo...5.3339M . free . 1959.4/unsworks_13067 . free .
4. Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, McEntagart M, Nordgren A, Pantaleoni C, Pebrel-Richard C, Sarret C, Sciacca FL, Wright R, Kerr B, Glasgow E, Banka S . 6 . Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability . American Journal of Human Genetics . 98 . 2 . 363–72 . February 2016 . 26833329 . 10.1016/j.ajhg.2015.12.014 . 4746363.
5. Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H . PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival . Human Molecular Genetics . 8 . 6 . 977–87 . June 1999 . 10332029 . 10.1093/hmg/8.6.977 . free .