HEY2: Difference between revisions

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'''HEY2''' (Hairy/Enhancer-of-split related with YRPW motif protein 2) is a [[protein]] that in humans is encoded by the HEY2 [[gene]]. This protein is a member of the [[basic helix-loop-helix]] (bHLH) family of transcription factors. It plays a significant role in [[cardiac development]], [[neurogenesis]], and [[Notch signaling pathway]].
HEY2
 
'''HEY2''' (also known as Hairy/enhancer-of-split related with YRPW motif protein 2) is a protein that in humans is encoded by the '''HEY2 gene'''. This gene is a member of the [[Hairy and Enhancer of Split]] (HES) family of [[basic helix-loop-helix]] (bHLH) transcription factors.


== Function ==
== Function ==
 
HEY2 is involved in the regulation of [[cardiovascular development]] and is essential for the proper formation of the [[heart]] and [[blood vessels]]. It functions as a transcriptional repressor and plays a critical role in the [[Notch signaling pathway]], which is important for cell differentiation processes.
HEY2 is a downstream effector of the Notch signaling pathway, which is a highly conserved cell signaling system present in most multicellular organisms. It is involved in various aspects of embryonic development, including the development of the [[heart]] and [[nervous system]].
 
In the heart, HEY2 is crucial for the formation of the [[atrioventricular canal]] and [[ventricular septum]]. It also plays a role in the development of the [[neural tube]], the precursor to the central nervous system.


== Clinical Significance ==
== Clinical Significance ==
Mutations in the HEY2 gene have been associated with various [[congenital heart defects]] and [[cardiomyopathies]]. Research has shown that alterations in HEY2 expression can lead to [[ventricular septal defects]] and other structural abnormalities in the heart.


Mutations in the HEY2 gene have been associated with various heart defects, including [[hypoplastic left heart syndrome]] and [[ventricular septal defect]]. It has also been implicated in certain types of [[cancer]], including [[leukemia]] and [[glioblastoma]], due to its role in cell proliferation and differentiation.
== Interactions ==
HEY2 interacts with other proteins in the Notch signaling pathway, including [[Notch1]] and [[Notch2]], to regulate gene expression. It also interacts with [[co-repressors]] such as [[Groucho]] to mediate transcriptional repression.


== Research ==
== Research ==
 
Ongoing research is focused on understanding the precise mechanisms by which HEY2 regulates cardiovascular development and its potential role in [[heart disease]]. Studies are also exploring the possibility of targeting HEY2 in therapeutic interventions for heart defects.
Research into the function and regulation of HEY2 is ongoing, with a focus on understanding its role in development and disease. This could potentially lead to new therapeutic strategies for treating heart defects and cancers.
 
[[File:HEY2 protein structure.jpg|thumb|right|300px|Structure of the HEY2 protein. Image from Wikimedia Commons.]]


== See Also ==
== See Also ==
* [[Notch signaling pathway]]
* [[Notch signaling pathway]]
* [[Basic helix-loop-helix]]
* [[Transcription factor]]
* [[Transcription factor]]
* [[Gene]]
* [[Cardiovascular development]]


== References ==
== References ==
{{Reflist}}


<references />
== External Links ==
* [https://www.ncbi.nlm.nih.gov/gene/23462 HEY2 Gene - NCBI]
* [https://www.genecards.org/cgi-bin/carddisp.pl?gene=HEY2 HEY2 Gene - GeneCards]


{{medicine-stub}}
{{Transcription factors}}
{{Cardiovascular system}}


[[Category:Transcription factors]]
[[Category:Transcription factors]]
[[Category:Human proteins]]
[[Category:Cardiovascular system]]
[[Category:Genes]]
[[Category:Developmental biology]]
[[Category:Cardiac development]]
[[Category:Human genes]]
[[Category:Neurogenesis]]
[[Category:Notch signaling pathway]]

Latest revision as of 20:47, 30 December 2024

HEY2

HEY2 (also known as Hairy/enhancer-of-split related with YRPW motif protein 2) is a protein that in humans is encoded by the HEY2 gene. This gene is a member of the Hairy and Enhancer of Split (HES) family of basic helix-loop-helix (bHLH) transcription factors.

Function[edit]

HEY2 is involved in the regulation of cardiovascular development and is essential for the proper formation of the heart and blood vessels. It functions as a transcriptional repressor and plays a critical role in the Notch signaling pathway, which is important for cell differentiation processes.

Clinical Significance[edit]

Mutations in the HEY2 gene have been associated with various congenital heart defects and cardiomyopathies. Research has shown that alterations in HEY2 expression can lead to ventricular septal defects and other structural abnormalities in the heart.

Interactions[edit]

HEY2 interacts with other proteins in the Notch signaling pathway, including Notch1 and Notch2, to regulate gene expression. It also interacts with co-repressors such as Groucho to mediate transcriptional repression.

Research[edit]

Ongoing research is focused on understanding the precise mechanisms by which HEY2 regulates cardiovascular development and its potential role in heart disease. Studies are also exploring the possibility of targeting HEY2 in therapeutic interventions for heart defects.

See Also[edit]

References[edit]

<references group="" responsive="1"></references>


External Links[edit]