POU3F2

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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]

Contents

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

Related Research Articles

<span class="mw-page-title-main">Transcription factor</span> Protein that regulates the rate of DNA transcription

In molecular biology, a transcription factor (TF) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are expressed in the desired cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are 1500-1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome.

<span class="mw-page-title-main">Oct-4</span> Mammalian protein found in Homo sapiens

Oct-4, also known as POU5F1, is a protein that in humans is encoded by the POU5F1 gene. Oct-4 is a homeodomain transcription factor of the POU family. It is critically involved in the self-renewal of undifferentiated embryonic stem cells. As such, it is frequently used as a marker for undifferentiated cells. Oct-4 expression must be closely regulated; too much or too little will cause differentiation of the cells.

<span class="mw-page-title-main">PAX3</span> Paired box gene 3

The PAX3 gene encodes a member of the paired box or PAX family of transcription factors. The PAX family consists of nine human (PAX1-PAX9) and nine mouse (Pax1-Pax9) members arranged into four subfamilies. Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. The human PAX3 gene is located in the 2q36.1 chromosomal region, and contains 10 exons within a 100 kb region.

Octamer transcription factors are a family of transcription factors which binds to the "ATTTGCAT" DNA sequence. Their DNA-binding domain is a POU domain.

Oct-2 also known as POU domain, class 2, transcription factor 2 is a protein that in humans is encoded by the POU2F2 gene.

BRN-3 is a group of related transcription factors in the POU family. They are also known as class 4 POU domain homeobox proteins.

<span class="mw-page-title-main">HMGA1</span> Protein-coding gene in the species Homo sapiens

High-mobility group protein HMG-I/HMG-Y is a protein that in humans is encoded by the HMGA1 gene.

<span class="mw-page-title-main">POU2F1</span> Protein-coding gene in the species Homo sapiens

POU domain, class 2, transcription factor 1 is a protein that in humans is encoded by the POU2F1 gene.

<span class="mw-page-title-main">Non-POU domain-containing octamer-binding protein</span> Protein-coding gene in the species Homo sapiens

Non-POU domain-containing octamer-binding protein (NonO) is a protein that in humans is encoded by the NONO gene.

POU is a family of eukaryotic transcription factors that have well-conserved homeodomains. The Pou domain is a bipartite DNA binding domain found in these proteins.

<span class="mw-page-title-main">RNA-binding protein EWS</span> Human protein and coding gene

RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22, specifically 22q12.2. It is one of 3 proteins in the FET protein family.

<span class="mw-page-title-main">HMGB2</span> Protein-coding gene in the species Homo sapiens

High-mobility group protein B2 also known as high-mobility group protein 2 (HMG-2) is a protein that in humans is encoded by the HMGB2 gene.

<span class="mw-page-title-main">POU2AF1</span> Protein-coding gene in the species Homo sapiens

POU domain class 2-associating factor 1 is a protein that in humans is encoded by the POU2AF1 gene. The protein is also termed Oct coactivator from B cells, Oct binding factor 1, and, as commonly found in the literature, BOB1. BOB1 is a transcriptional coactivator which is expressed principally by B-cell lymphocytes and controls immunoglobulin and other genes critical for these cells expression of CD20, CRISP-3, and CD36. The expression of BOB1 has proven useful for identifying certain lymphomas as being B-cell lymphomas, as exemplified in studies which use BAB1 expression to help identify lymphomas as being diffuse large B-cell lymphomas, not otherwise specified.

<span class="mw-page-title-main">SLC22A1</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 22 member 1 is a protein that in humans is encoded by the gene SLC22A1.

<span class="mw-page-title-main">POU4F1</span> Protein-coding gene in the species Homo sapiens

POU domain, class 4, transcription factor 1 (POU4F1) also known as brain-specific homeobox/POU domain protein 3A (BRN3A), homeobox/POU domain protein RDC-1 or Oct-T1 is a protein that in humans is encoded by the POU4F1 gene.

<span class="mw-page-title-main">POU4F2</span> Protein-coding gene in the species Homo sapiens

POU domain, class 4, transcription factor 2 is a protein that in humans is encoded by the POU4F2 gene.

<span class="mw-page-title-main">POU3F1</span> Protein-coding gene in the species Homo sapiens

POU domain, class 3, transcription factor 1 is a protein that in humans is encoded by the POU3F1 gene.

<span class="mw-page-title-main">POU2F3</span> Protein-coding gene in the species Homo sapiens

POU domain, class 2, transcription factor 3 is a protein that in humans is encoded by the POU2F3 gene.

<span class="mw-page-title-main">POU3F4</span> Protein-coding gene in the species Homo sapiens

POU domain, class 3, transcription factor 4 is a protein that in humans is encoded by the POU3F4 gene found on the X chromosome.

<span class="mw-page-title-main">POU4F3</span> Protein-coding gene in the species Homo sapiens

POU domain, class 4, transcription factor 3 is a protein that in humans is encoded by the POU4F3 gene. It's a member of BRN-3 group, also known as POU family class 4.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000184486 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. 1 2 "Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2".
  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 . PMID   24618891.
  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. 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.