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{{Infobox_gene}}
{{PBB_Controls
'''POU domain, class 3, transcription factor 2''' is a [[protein]] that in humans is encoded by the ''POU3F2'' [[gene]].<ref name="pmid8441633">{{cite journal | vauthors = Schreiber E, Tobler A, Malipiero U, Schaffner W, Fontana A | title = cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif | journal = Nucleic Acids Research | volume = 21 | issue = 2 | pages = 253–8 | date = January 1993 | pmid = 8441633 | pmc = 309100 | doi = 10.1093/nar/21.2.253 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5454| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = POU domain, class 3, transcription factor 2
| HGNCid = 9215
| Symbol = POU3F2
| AltSymbols =; BRN2; OCT7; OTF7; POUF3
| OMIM = 600494
| ECnumber = 
| Homologene = 4095
| MGIid = 101895
| GeneAtlas_image1 = PBB_GE_POU3F2_207084_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5454
    | Hs_Ensembl = ENSG00000184486
    | Hs_RefseqProtein = NP_005595
    | Hs_RefseqmRNA = NM_005604
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 99389301
    | Hs_GenLoc_end = 99393381
    | Hs_Uniprot = P20265
    | Mm_EntrezGene = 18992
    | Mm_Ensembl = ENSMUSG00000052621
    | Mm_RefseqmRNA = XM_001000593
    | Mm_RefseqProtein = XP_001000593
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 22577629
    | Mm_GenLoc_end = 22578966
    | Mm_Uniprot = P31360
  }}
}}
'''POU domain, class 3, transcription factor 2''', also known as '''POU3F2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5454| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5454| accessdate = }}</ref>
}}


==See also==
== 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 nucletide polymorphism, '''Rs1906252''', that is associated with a cognitive phenotype: processing information speed.<ref name="genome">{{cite journal | vauthors = 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 | display-authors = 6 | title = Genome-wide association study reveals two new risk loci for bipolar disorder | journal = Nature Communications | volume = 5 | issue = | pages = 3339 | year = 2014 | pmid = 24618891 | doi = 10.1038/ncomms4339 | url = }}</ref>
 
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.<ref>{{cite journal | vauthors = 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 | display-authors = 6 | title = Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability | journal = American Journal of Human Genetics | volume = 98 | issue = 2 | pages = 363–72 | date = February 2016 | pmid = 26833329 | doi = 10.1016/j.ajhg.2015.12.014 | pmc=4746363}}</ref>
 
== Interactions ==
 
POU3F2 has been shown to [[Protein-protein interaction|interact]] with [[PQBP1]].<ref name=pmid10332029>{{cite journal | vauthors = Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H | title = PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival | journal = Human Molecular Genetics | volume = 8 | issue = 6 | pages = 977–87 | date = June 1999 | pmid = 10332029 | doi = 10.1093/hmg/8.6.977 }}</ref>
 
== See also ==
* [[Octamer transcription factor]]
* [[Octamer transcription factor]]
{{clear}}


==References==
== References ==
{{reflist|2}}
{{reflist|33em}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Hara Y, Rovescalli AC, Kim Y, Nirenberg M | title = Structure and evolution of four POU domain genes expressed in mouse brain | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 8 | pages = 3280–4 | date = April 1992 | pmid = 1565620 | pmc = 48850 | doi = 10.1073/pnas.89.8.3280 }}
| citations =
* {{cite journal | vauthors = Schreiber E, Harshman K, Kemler I, Malipiero U, Schaffner W, Fontana A | title = Astrocytes and glioblastoma cells express novel octamer-DNA binding proteins distinct from the ubiquitous Oct-1 and B cell type Oct-2 proteins | journal = Nucleic Acids Research | volume = 18 | issue = 18 | pages = 5495–503 | date = September 1990 | pmid = 2216722 | pmc = 332229 | doi = 10.1093/nar/18.18.5495 }}
*{{cite journal | author=Hara Y, Rovescalli AC, Kim Y, Nirenberg M |title=Structure and evolution of four POU domain genes expressed in mouse brain. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 8 |pages= 3280-4 |year= 1992 |pmid= 1565620 |doi= }}
* {{cite journal | vauthors = He X, Treacy MN, Simmons DM, Ingraham HA, Swanson LW, Rosenfeld MG | title = Expression of a large family of POU-domain regulatory genes in mammalian brain development | journal = Nature | volume = 340 | issue = 6228 | pages = 35–41 | date = July 1989 | pmid = 2739723 | doi = 10.1038/340035a0 }}
*{{cite journal | author=Schreiber E, Harshman K, Kemler I, ''et al.'' |title=Astrocytes and glioblastoma cells express novel octamer-DNA binding proteins distinct from the ubiquitous Oct-1 and B cell type Oct-2 proteins. |journal=Nucleic Acids Res. |volume=18 |issue= 18 |pages= 5495-503 |year= 1990 |pmid= 2216722 |doi= }}
* {{cite journal | vauthors = Eisen T, Easty DJ, Bennett DC, Goding CR | title = The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression | journal = Oncogene | volume = 11 | issue = 10 | pages = 2157–64 | date = November 1995 | pmid = 7478537 | doi =  }}
*{{cite journal | author=He X, Treacy MN, Simmons DM, ''et al.'' |title=Expression of a large family of POU-domain regulatory genes in mammalian brain development. |journal=Nature |volume=340 |issue= 6228 |pages= 35-41 |year= 1989 |pmid= 2739723 |doi= 10.1038/340035a0 }}
* {{cite journal | vauthors = Atanasoski S, Toldo SS, Malipiero U, Schreiber E, Fries R, Fontana A | title = Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16 | journal = Genomics | volume = 26 | issue = 2 | pages = 272–80 | date = March 1995 | pmid = 7601453 | doi = 10.1016/0888-7543(95)80211-4 }}
*{{cite journal | author=Eisen T, Easty DJ, Bennett DC, Goding CR |title=The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression. |journal=Oncogene |volume=11 |issue= 10 |pages= 2157-64 |year= 1995 |pmid= 7478537 |doi=  }}
* {{cite journal | vauthors = Thomson JA, Murphy K, Baker E, Sutherland GR, Parsons PG, Sturm RA, Thomson F | title = The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells | journal = Oncogene | volume = 11 | issue = 4 | pages = 691–700 | date = August 1995 | pmid = 7651733 | doi =  }}
*{{cite journal | author=Atanasoski S, Toldo SS, Malipiero U, ''et al.'' |title=Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16. |journal=Genomics |volume=26 |issue= 2 |pages= 272-80 |year= 1995 |pmid= 7601453 |doi= }}
* {{cite journal | vauthors = Atanasoski S, Schreiber E, Fontana A, Herr W | title = N-Oct 5 is generated by in vitro proteolysis of the neural POU-domain protein N-Oct 3 | journal = Oncogene | volume = 14 | issue = 11 | pages = 1287–94 | date = March 1997 | pmid = 9178889 | doi = 10.1038/sj.onc.1200953 }}
*{{cite journal | author=Thomson JA, Murphy K, Baker E, ''et al.'' |title=The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells. |journal=Oncogene |volume=11 |issue= 4 |pages= 691-700 |year= 1995 |pmid= 7651733 |doi=  }}
* {{cite journal | vauthors = Petersenn S, Rasch AC, Heyens M, Schulte HM | title = Structure and regulation of the human growth hormone-releasing hormone receptor gene | journal = Molecular Endocrinology | volume = 12 | issue = 2 | pages = 233–47 | date = February 1998 | pmid = 9482665 | doi = 10.1210/me.12.2.233 }}
*{{cite journal | author=Schreiber E, Tobler A, Malipiero U, ''et al.'' |title=cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif. |journal=Nucleic Acids Res. |volume=21 |issue= 2 |pages= 253-8 |year= 1993 |pmid= 8441633 |doi=  }}
* {{cite journal | vauthors = Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I, Wegner M | title = Cooperative function of POU proteins and SOX proteins in glial cells | journal = The Journal of Biological Chemistry | volume = 273 | issue = 26 | pages = 16050–7 | date = June 1998 | pmid = 9632656 | doi = 10.1074/jbc.273.26.16050 }}
*{{cite journal  | author=Atanasoski S, Schreiber E, Fontana A, Herr W |title=N-Oct 5 is generated by in vitro proteolysis of the neural POU-domain protein N-Oct 3. |journal=Oncogene |volume=14 |issue= 11 |pages= 1287-94 |year= 1997 |pmid= 9178889 |doi= 10.1038/sj.onc.1200953 }}
* {{cite journal | vauthors = Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H | title = PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival | journal = Human Molecular Genetics | volume = 8 | issue = 6 | pages = 977–87 | date = June 1999 | pmid = 10332029 | doi = 10.1093/hmg/8.6.977 }}
*{{cite journal | author=Petersenn S, Rasch AC, Heyens M, Schulte HM |title=Structure and regulation of the human growth hormone-releasing hormone receptor gene. |journal=Mol. Endocrinol. |volume=12 |issue= 2 |pages= 233-47 |year= 1998 |pmid= 9482665 |doi= }}
* {{cite journal | vauthors = Smit DJ, Smith AG, Parsons PG, Muscat GE, Sturm RA | title = Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors | journal = European Journal of Biochemistry / FEBS | volume = 267 | issue = 21 | pages = 6413–22 | date = November 2000 | pmid = 11029584 | doi = 10.1046/j.1432-1327.2000.01737.x }}
*{{cite journal | author=Kuhlbrodt K, Herbarth B, Sock E, ''et al.'' |title=Cooperative function of POU proteins and SOX proteins in glial cells. |journal=J. Biol. Chem. |volume=273 |issue= 26 |pages= 16050-7 |year= 1998 |pmid= 9632656 |doi= }}
* {{cite journal | vauthors = Jaegle M, Ghazvini M, Mandemakers W, Piirsoo M, Driegen S, Levavasseur F, Raghoenath S, Grosveld F, Meijer D | title = The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development | journal = Genes & Development | volume = 17 | issue = 11 | pages = 1380–91 | date = June 2003 | pmid = 12782656 | pmc = 196070 | doi = 10.1101/gad.258203 }}
*{{cite journal | author=Waragai M, Lammers CH, Takeuchi S, ''et al.'' |title=PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. |journal=Hum. Mol. Genet. |volume=8 |issue= 6 |pages= 977-87 |year= 1999 |pmid= 10332029 |doi= }}
* {{cite journal | vauthors = Goodall J, Martinozzi S, Dexter TJ, Champeval D, Carreira S, Larue L, Goding CR | title = Brn-2 expression controls melanoma proliferation and is directly regulated by beta-catenin | journal = Molecular and Cellular Biology | volume = 24 | issue = 7 | pages = 2915–22 | date = April 2004 | pmid = 15024079 | pmc = 371132 | doi = 10.1128/MCB.24.7.2915-2922.2004 }}
*{{cite journal | author=Smit DJ, Smith AG, Parsons PG, ''et al.'' |title=Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors. |journal=Eur. J. Biochem. |volume=267 |issue= 21 |pages= 6413-22 |year= 2000 |pmid= 11029584 |doi= }}
* {{cite journal | vauthors = Goodall J, Wellbrock C, Dexter TJ, Roberts K, Marais R, Goding CR | title = The Brn-2 transcription factor links activated BRAF to melanoma proliferation | journal = Molecular and Cellular Biology | volume = 24 | issue = 7 | pages = 2923–31 | date = April 2004 | pmid = 15024080 | pmc = 371133 | doi = 10.1128/MCB.24.7.2923-2931.2004 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Cobrinik D, Francis RO, Abramson DH, Lee TC | title = Rb induces a proliferative arrest and curtails Brn-2 expression in retinoblastoma cells | journal = Molecular Cancer | volume = 5 | issue = 1 | pages = 72 | year = 2007 | pmid = 17163992 | pmc = 1764425 | doi = 10.1186/1476-4598-5-72 }}
*{{cite journal | author=Jaegle M, Ghazvini M, Mandemakers W, ''et al.'' |title=The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development. |journal=Genes Dev. |volume=17 |issue= 11 |pages= 1380-91 |year= 2003 |pmid= 12782656 |doi= 10.1101/gad.258203 }}
*{{cite journal | author=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805-11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Goodall J, Martinozzi S, Dexter TJ, ''et al.'' |title=Brn-2 expression controls melanoma proliferation and is directly regulated by beta-catenin. |journal=Mol. Cell. Biol. |volume=24 |issue= 7 |pages= 2915-22 |year= 2004 |pmid= 15024079 |doi= }}
*{{cite journal | author=Goodall J, Wellbrock C, Dexter TJ, ''et al.'' |title=The Brn-2 transcription factor links activated BRAF to melanoma proliferation. |journal=Mol. Cell. Biol. |volume=24 |issue= 7 |pages= 2923-31 |year= 2004 |pmid= 15024080 |doi= }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | author=Cobrinik D, Francis RO, Abramson DH, Lee TC |title=Rb induces a proliferative arrest and curtails Brn-2 expression in retinoblastoma cells. |journal=Mol. Cancer |volume=5 |issue= |pages= 72 |year= 2007 |pmid= 17163992 |doi= 10.1186/1476-4598-5-72 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|POU3F2+protein,+human}}
* {{MeshName|POU3F2+protein,+human}}
{{NLM content}}
{{Transcription factors|g3}}
[[Category:POU-domain proteins]]




{{protein-stub}}
{{gene-6-stub}}
{{NLM content}}
{{Transcription factors}}
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Latest revision as of 02:08, 27 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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View/Edit Human

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.[2]

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 nucletide 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

References

  1. 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.
  2. 2.0 2.1 "Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2".
  3. 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. doi:10.1038/ncomms4339. PMID 24618891.
  4. 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.
  5. 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

External links

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