POU3F2

POU3F2
Identifiers
Aliases POU3F2, BRN2, N-Oct3, OCT7, OTF-7, OTF7, POUF3, brn-2, oct-7, POU class 3 homeobox 2
External IDs MGI: 101895 HomoloGene: 4095 GeneCards: POU3F2
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

5454

18992

Ensembl

ENSG00000184486

ENSMUSG00000095139

UniProt

P20265

P31360

RefSeq (mRNA)

NM_005604

NM_008899

RefSeq (protein)

NP_005595.2

NP_032925.1

Location (UCSC) Chr 6: 98.83 – 98.84 Mb Chr 4: 22.48 – 22.49 Mb
PubMed search [1] [2]
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.[3][4]

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.[4]

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.[5]

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.[6]

Interactions

POU3F2 has been shown to interact with PQBP1.[7]

See also

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ 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 309100Freely accessible. PMID 8441633.
  4. 1 2 "Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2".
  5. ↑ 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.
  6. ↑ 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. PMID 26833329.
  7. ↑ 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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