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Contents

   



(Top)
 


1 Function  





2 Disease linkage  





3 Interactions  





4 See also  





5 References  





6 Further reading  





7 External links  














POU3F2






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POU3F2
Identifiers
AliasesPOU3F2, BRN2, N-Oct3, OCT7, OTF-7, OTF7, POUF3, brn-2, oct-7, POU class 3 homeobox 2
External IDsOMIM: 600494; MGI: 101895; HomoloGene: 4095; GeneCards: POU3F2; OMA:POU3F2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005604

NM_008899

RefSeq (protein)

NP_005595

NP_032925

Location (UCSC)Chr 6: 98.83 – 98.84 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

POU domain, class 3, transcription factor 2 is a protein that in humans is encoded by the POU3F2 gene.[4][5]

Function[edit]

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 linkage[edit]

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]

Interactions[edit]

POU3F2 has been shown to interact with PQBP1.[8]

See also[edit]

References[edit]

  • ^ "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".
  • ^ 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. hdl:1959.4/unsworks_13067. 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[edit]

  • 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 & 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[edit]

    This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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