POU3F2

POU3F2
Identifiers
Aliases	POU3F2, BRN2, N-Oct3, OCT7, OTF-7, OTF7, POUF3, brn-2, oct-7, POU class 3 homeobox 2
External IDs	OMIM: 600494 MGI: 101895 HomoloGene: 4095 GeneCards: POU3F2
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q16.1 Start 98,834,574 bp[1] End 98,839,458 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence internal globus pallidus ventral tegmental area inferior ganglion of vagus nerve superior vestibular nucleus parietal lobe postcentral gyrus caudate nucleus entorhinal cortex amygdala n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding transcription coactivator activity sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding identical protein binding DNA-binding transcription factor activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component transcription regulator complex nucleus Biological process cellular response to organic substance regulation of transcription, DNA-templated astrocyte development hypothalamus cell differentiation Schwann cell development transcription by RNA polymerase II negative regulation of gene expression myelination in peripheral nervous system transcription, DNA-templated regulation of axonogenesis forebrain ventricular zone progenitor cell division neurohypophysis development brain development positive regulation of cell population proliferation epidermis development positive regulation of multicellular organism growth regulation of cell differentiation cerebral cortex radially oriented cell migration positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II nervous system development neuron differentiation neuron fate commitment neuron fate specification neuron development cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5454 18992 Ensembl ENSG00000184486 ENSMUSG00000095139 UniProt P20265 P31360 RefSeq (mRNA) NM_005604 NM_008899 RefSeq (protein) NP_005595 NP_032925 Location (UCSC) Chr 6: 98.83 – 98.84 Mb n/a PubMed search [2] [3]
Wikidata
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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 interact with PQBP1.^[8]

See also

• Octamer transcription factor

References

Further reading

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.

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