POU4F2: Difference between revisions

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'''POU4F2''' also known as '''POU domain, class 4, transcription factor 2''' is a protein that in humans is encoded by the POU4F2 gene. It is a member of the POU-domain family of transcription factors, which play a key role in embryonic development and cell differentiation.
 
{{Infobox gene
| name = POU4F2
| image = <!-- Image removed -->
| caption = <!-- Image caption removed -->
| HGNCid = 9210
| Symbol = POU4F2
| AltSymbols = BRN3B
| EntrezGene = 5458
| OMIM = 602233
| RefSeq = NM_006234
| UniProt = Q12837
| Chromosome = 4
| Arm = q
| Band = 31.22
}}
 
'''POU4F2''', also known as '''BRN3B''', is a [[gene]] that encodes a [[transcription factor]] belonging to the POU-IV class. This gene is involved in the regulation of [[gene expression]] during [[neurogenesis]] and is crucial for the development of the [[retina]].


== Function ==
== Function ==
POU4F2 is a transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the genes for small nuclear RNAs (snRNA) and of the genes associated with neuronal differentiation. It plays a crucial role in the development of the [[retina]] and [[optic nerve]], and mutations in this gene have been associated with various diseases of the eye, including [[congenital stationary night blindness]].
The POU4F2 protein is a [[transcription factor]] that binds to specific DNA sequences, thereby controlling the transcription of genetic information from DNA to [[mRNA]]. It plays a significant role in the development of [[retinal ganglion cells]] and is essential for [[visual system]] development.


== Structure ==
== Clinical Significance ==
The POU4F2 protein is composed of 361 amino acids and has a molecular weight of approximately 40 kDa. It contains a POU-specific domain and a POU homeodomain, which are both necessary for DNA binding. The POU-specific domain is responsible for sequence-specific DNA binding, while the POU homeodomain is involved in protein-protein interactions.
Mutations or dysregulation of the POU4F2 gene have been associated with various [[ocular diseases]] and [[neurological disorders]]. Research indicates that POU4F2 may be involved in the pathogenesis of [[glaucoma]] and other [[retinal degenerative diseases]].


== Clinical significance ==
== Interactions ==
Mutations in the POU4F2 gene have been associated with various eye diseases, including [[glaucoma]], [[retinitis pigmentosa]], and [[congenital stationary night blindness]]. Studies have shown that POU4F2 is essential for the survival of retinal ganglion cells, and its loss can lead to optic nerve atrophy and vision loss.
POU4F2 interacts with other [[transcription factors]] and [[co-regulators]] to modulate the expression of target genes. It is known to interact with [[POU4F1]] and [[POU4F3]], which are also members of the POU-IV class of transcription factors.


== Research ==
== Research ==
Research on POU4F2 is ongoing, with studies focusing on its role in eye development and disease, as well as its potential use in gene therapy for eye diseases.  
Studies on POU4F2 have provided insights into its role in [[neurodevelopment]] and its potential as a therapeutic target for [[retinal diseases]]. Ongoing research is focused on understanding the molecular mechanisms by which POU4F2 regulates [[gene networks]] involved in [[neuronal differentiation]] and survival.


[[File:POU4F2 protein structure.jpg|thumb|right|300px|Structure of the POU4F2 protein.]]
== See Also ==
 
== See also ==
* [[POU domain]]
* [[Transcription factor]]
* [[Transcription factor]]
* [[Retina]]
* [[Neurogenesis]]
* [[Optic nerve]]
* [[Retinal ganglion cell]]
* [[Congenital stationary night blindness]]
* [[Gene expression]]


== References ==
== References ==
<references />
<references />


[[Category:Genes]]
== External Links ==
* [POU4F2 Gene - GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=POU4F2)
* [POU4F2 - NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/5458)
 
{{Transcription factors}}
{{Genes on human chromosome 4}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
[[Category:Eye diseases]]
[[Category:Genes on human chromosome 4]]
[[Category:Proteins]]
[[Category:Neurogenesis]]
 
[[Category:Retinal development]]
{{medicine-stub}}

Revision as of 20:45, 30 December 2024


POU4F2
Symbol –
HGNC ID 9210
Alternative symbols –
Entrez Gene 5458
OMIM 602233
RefSeq NM_006234
UniProt Q12837
Chromosome –
Locus supplementary data –


POU4F2, also known as BRN3B, is a gene that encodes a transcription factor belonging to the POU-IV class. This gene is involved in the regulation of gene expression during neurogenesis and is crucial for the development of the retina.

Function

The POU4F2 protein is a transcription factor that binds to specific DNA sequences, thereby controlling the transcription of genetic information from DNA to mRNA. It plays a significant role in the development of retinal ganglion cells and is essential for visual system development.

Clinical Significance

Mutations or dysregulation of the POU4F2 gene have been associated with various ocular diseases and neurological disorders. Research indicates that POU4F2 may be involved in the pathogenesis of glaucoma and other retinal degenerative diseases.

Interactions

POU4F2 interacts with other transcription factors and co-regulators to modulate the expression of target genes. It is known to interact with POU4F1 and POU4F3, which are also members of the POU-IV class of transcription factors.

Research

Studies on POU4F2 have provided insights into its role in neurodevelopment and its potential as a therapeutic target for retinal diseases. Ongoing research is focused on understanding the molecular mechanisms by which POU4F2 regulates gene networks involved in neuronal differentiation and survival.

See Also

References

<references />

External Links









{{Navbox | name = Genes on human chromosome 4 | title = Genes on human chromosome 4 | listclass = hlist

| group1 = Locus 4p16.3 | list1 =

| group2 = Locus 4q21-q22 | list2 =

| group3 = Locus 4q25 | list3 =

| group4 = Locus 4q28.3 | list4 =

| group5 = Locus 4q31.21 | list5 =

| group6 = Locus 4q32-q35 | list6 =

| group7 = Other notable genes | list7 =

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