POU3F2

POU3F2

POU3F2

Protein-coding gene in the species Homo sapiens

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

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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 interact with PQBP1.[8]

See also

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000184486 – Ensembl, May 2017
  2. [2]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. [3]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    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.
  5. [5]
    "Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2".
  6. [6]
    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.
  7. [7]
    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.
  8. [8]
    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

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


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