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]
Disease linkageedit
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.[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]
^ abcGRCh38: Ensembl release 89: ENSG00000184486 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Schreiber E, Tobler A, Malipiero U, Schaffner W, Fontana A (January 1993). "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. doi:10.1093/nar/21.2.253. PMC309100. PMID 8441633.
^ ab"Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2".
^Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, et al. (2014). "Genome-wide association study reveals two new risk loci for bipolar disorder". Nature Communications. 5: 3339. Bibcode:2014NatCo...5.3339M. doi:10.1038/ncomms4339. PMID 24618891.
^Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, et al. (February 2016). "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. doi:10.1016/j.ajhg.2015.12.014. PMC4746363. PMID 26833329.
^Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (June 1999). "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. doi:10.1093/hmg/8.6.977. PMID 10332029.
Further readingedit
Hara Y, Rovescalli AC, Kim Y, Nirenberg M (April 1992). "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. Bibcode:1992PNAS...89.3280H. doi:10.1073/pnas.89.8.3280. PMC48850. PMID 1565620.
Schreiber E, Harshman K, Kemler I, Malipiero U, Schaffner W, Fontana A (September 1990). "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. doi:10.1093/nar/18.18.5495. PMC332229. PMID 2216722.
He X, Treacy MN, Simmons DM, Ingraham HA, Swanson LW, Rosenfeld MG (July 1989). "Expression of a large family of POU-domain regulatory genes in mammalian brain development". Nature. 340 (6228): 35–41. Bibcode:1989Natur.340...35H. doi:10.1038/340035a0. PMID 2739723. S2CID 4275887.
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. PMID 7478537.
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. PMID 7601453.
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. PMID 7651733.
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. PMID 9178889. S2CID 20331599.
Petersenn S, Rasch AC, Heyens M, Schulte HM (February 1998). "Structure and regulation of the human growth hormone-releasing hormone receptor gene". Molecular Endocrinology. 12 (2): 233–47. doi:10.1210/mend.12.2.0057. PMID 9482665.
Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I, Wegner M (June 1998). "Cooperative function of POU proteins and SOX proteins in glial cells". The Journal of Biological Chemistry. 273 (26): 16050–7. doi:10.1074/jbc.273.26.16050. PMID 9632656.
Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (June 1999). "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. doi:10.1093/hmg/8.6.977. PMID 10332029.
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. PMID 11029584.
Jaegle M, Ghazvini M, Mandemakers W, Piirsoo M, Driegen S, Levavasseur F, Raghoenath S, Grosveld F, Meijer D (June 2003). "The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development". Genes & Development. 17 (11): 1380–91. doi:10.1101/gad.258203. PMC196070. PMID 12782656.
Goodall J, Martinozzi S, Dexter TJ, Champeval D, Carreira S, Larue L, Goding CR (April 2004). "Brn-2 expression controls melanoma proliferation and is directly regulated by beta-catenin". Molecular and Cellular Biology. 24 (7): 2915–22. doi:10.1128/MCB.24.7.2915-2922.2004. PMC371132. PMID 15024079.
Goodall J, Wellbrock C, Dexter TJ, Roberts K, Marais R, Goding CR (April 2004). "The Brn-2 transcription factor links activated BRAF to melanoma proliferation". Molecular and Cellular Biology. 24 (7): 2923–31. doi:10.1128/MCB.24.7.2923-2931.2004. PMC371133. PMID 15024080.
Cobrinik D, Francis RO, Abramson DH, Lee TC (2007). "Rb induces a proliferative arrest and curtails Brn-2 expression in retinoblastoma cells". Molecular Cancer. 5 (1): 72. doi:10.1186/1476-4598-5-72. PMC1764425. PMID 17163992.
pou3f2, domain, class, transcription, factor, protein, that, humans, encoded, gene, identifiersaliases, brn2, oct3, oct7, otf7, pouf3, class, homeobox, 2external, idsomim, 600494, 101895, homologene, 4095, genecards, gene, location, human, chromosome, human, b. POU domain class 3 transcription factor 2 is a protein that in humans is encoded by the POU3F2 gene 4 5 POU3F2IdentifiersAliasesPOU3F2 BRN2 N Oct3 OCT7 OTF 7 OTF7 POUF3 brn 2 oct 7 POU class 3 homeobox 2External IDsOMIM 600494 MGI 101895 HomoloGene 4095 GeneCards POU3F2Gene location Human Chr Chromosome 6 human 1 Band6q16 1Start98 834 574 bp 1 End98 839 458 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceinternal globus pallidusventral tegmental areainferior ganglion of vagus nervesuperior vestibular nucleusparietal lobepostcentral gyruscaudate nucleusentorhinal cortexamygdalan aMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding transcription coactivator activity sequence specific DNA binding DNA binding transcription activator activity RNA polymerase II specific RNA polymerase II cis regulatory region sequence specific DNA binding protein binding identical protein binding DNA binding transcription factor activity DNA binding transcription factor activity RNA polymerase II specificCellular componenttranscription regulator complex nucleusBiological processcellular response to organic substance regulation of transcription DNA templated astrocyte development hypothalamus cell differentiation Schwann cell development transcription by RNA polymerase II negative regulation of gene expression myelination in peripheral nervous system transcription DNA templated regulation of axonogenesis forebrain ventricular zone progenitor cell division neurohypophysis development brain development positive regulation of cell population proliferation epidermis development positive regulation of multicellular organism growth regulation of cell differentiation cerebral cortex radially oriented cell migration positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II nervous system development neuron differentiation neuron fate commitment neuron fate specification neuron development cell differentiationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez545418992EnsemblENSG00000184486ENSMUSG00000095139UniProtP20265P31360RefSeq mRNA NM 005604NM 008899RefSeq protein NP 005595NP 032925Location UCSC Chr 6 98 83 98 84 Mbn aPubMed search 2 3 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Disease linkage 3 Interactions 4 See also 5 References 6 Further reading 7 External linksFunction editN 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 Disease linkage editThe 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 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 Interactions editPOU3F2 has been shown to interact with PQBP1 8 See also editOctamer transcription factorReferences edit a b c GRCh38 Ensembl release 89 ENSG00000184486 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Schreiber E Tobler A Malipiero U Schaffner W Fontana A January 1993 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 doi 10 1093 nar 21 2 253 PMC 309100 PMID 8441633 a b Entrez Gene POU3F2 POU domain class 3 transcription factor 2 Muhleisen TW Leber M Schulze TG Strohmaier J Degenhardt F Treutlein J et al 2014 Genome wide association study reveals two new risk loci for bipolar disorder Nature Communications 5 3339 Bibcode 2014NatCo 5 3339M doi 10 1038 ncomms4339 PMID 24618891 Kasher PR Schertz KE Thomas M Jackson A Annunziata S Ballesta Martinez MJ et al February 2016 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 doi 10 1016 j ajhg 2015 12 014 PMC 4746363 PMID 26833329 Waragai M Lammers CH Takeuchi S Imafuku I Udagawa Y Kanazawa I Kawabata M Mouradian MM Okazawa H June 1999 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 doi 10 1093 hmg 8 6 977 PMID 10332029 Further reading editHara Y Rovescalli AC Kim Y Nirenberg M April 1992 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 Bibcode 1992PNAS 89 3280H doi 10 1073 pnas 89 8 3280 PMC 48850 PMID 1565620 Schreiber E Harshman K Kemler I Malipiero U Schaffner W Fontana A September 1990 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 doi 10 1093 nar 18 18 5495 PMC 332229 PMID 2216722 He X Treacy MN Simmons DM Ingraham HA Swanson LW Rosenfeld MG July 1989 Expression of a large family of POU domain regulatory genes in mammalian brain development Nature 340 6228 35 41 Bibcode 1989Natur 340 35H doi 10 1038 340035a0 PMID 2739723 S2CID 4275887 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 PMID 7478537 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 PMID 7601453 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 PMID 7651733 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 PMID 9178889 S2CID 20331599 Petersenn S Rasch AC Heyens M Schulte HM February 1998 Structure and regulation of the human growth hormone releasing hormone receptor gene Molecular Endocrinology 12 2 233 47 doi 10 1210 mend 12 2 0057 PMID 9482665 Kuhlbrodt K Herbarth B Sock E Enderich J Hermans Borgmeyer I Wegner M June 1998 Cooperative function of POU proteins and SOX proteins in glial cells The Journal of Biological Chemistry 273 26 16050 7 doi 10 1074 jbc 273 26 16050 PMID 9632656 Waragai M Lammers CH Takeuchi S Imafuku I Udagawa Y Kanazawa I Kawabata M Mouradian MM Okazawa H June 1999 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 doi 10 1093 hmg 8 6 977 PMID 10332029 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 PMID 11029584 Jaegle M Ghazvini M Mandemakers W Piirsoo M Driegen S Levavasseur F Raghoenath S Grosveld F Meijer D June 2003 The POU proteins Brn 2 and Oct 6 share important functions in Schwann cell development Genes amp Development 17 11 1380 91 doi 10 1101 gad 258203 PMC 196070 PMID 12782656 Goodall J Martinozzi S Dexter TJ Champeval D Carreira S Larue L Goding CR April 2004 Brn 2 expression controls melanoma proliferation and is directly regulated by beta catenin Molecular and Cellular Biology 24 7 2915 22 doi 10 1128 MCB 24 7 2915 2922 2004 PMC 371132 PMID 15024079 Goodall J Wellbrock C Dexter TJ Roberts K Marais R Goding CR April 2004 The Brn 2 transcription factor links activated BRAF to melanoma proliferation Molecular and Cellular Biology 24 7 2923 31 doi 10 1128 MCB 24 7 2923 2931 2004 PMC 371133 PMID 15024080 Cobrinik D Francis RO Abramson DH Lee TC 2007 Rb induces a proliferative arrest and curtails Brn 2 expression in retinoblastoma cells Molecular Cancer 5 1 72 doi 10 1186 1476 4598 5 72 PMC 1764425 PMID 17163992 External links editPOU3F2 protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title POU3F2 amp oldid 1188043209, wikipedia, wiki, book, books, library,
