POU3F2
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 6: 98.83 – 98.84 Mb | n/a | |||||||
| PubMed search | [2] | [3] | |||||||
| View/Edit Human | View/Edit Mouse |
POU domain, class 3, transcription factor 2 is a protein that in humans is encoded by the POU3F2 gene.[4][5]
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.[5]
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.[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
POU3F2 has been shown to
See also
References
- ^ 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.
- PMID 8441633.
- ^ a b "Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2".
- PMID 24618891.
- PMID 26833329.
- PMID 10332029.
Further reading
- 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. 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. 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. 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. PMID 7601453.
- Thomson JA, Murphy K, Baker E, 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 17163992.
External links
- POU3F2+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.
 | This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it. |