POU domain, class 3, transcription factor 2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''POU3F2''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
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.
Disease linkage
The POU3F2 protein associates with the
Bipolar disorder
Bipolar disorder, previously known as manic depression, is a mental disorder characterized by periods of Depression (mood), depression and periods of abnormally elevated Mood (psychology), mood that last from days to weeks each. If the elevat ...
. 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.
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.
Interactions
POU3F2 has been shown to
interact
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with
PQBP1.
See also
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Octamer transcription factor
References
Further reading
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External links
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POU-domain proteins
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