HAND2: Difference between revisions
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'''HAND2''' is a [[ | |||
{{Infobox gene | |||
| name = HAND2 | |||
| symbol = HAND2 | |||
| HGNCid = 14971 | |||
| chromosome = 4 | |||
| arm = q | |||
| band = 34 | |||
}} | |||
'''HAND2''' (Heart and Neural Crest Derivatives Expressed 2) is a [[gene]] that encodes a member of the basic helix-loop-helix (bHLH) family of [[transcription factors]]. This gene plays a crucial role in the development of the [[heart]], [[branchial arches]], and [[limb]]s. | |||
== Function == | == Function == | ||
HAND2 is | HAND2 is essential for the proper development of the [[cardiac]] [[outflow tract]], [[right ventricle]], and [[ventricular septum]]. It is also involved in the formation of the [[sympathetic nervous system]] and the [[peripheral nervous system]]. HAND2 functions by regulating the expression of other genes during [[embryogenesis]]. | ||
== Clinical Significance == | |||
Mutations in the HAND2 gene have been associated with congenital heart defects, such as [[ventricular septal defect]]s and [[tetralogy of Fallot]]. HAND2 is also implicated in the development of certain types of [[cancer]], including [[neuroblastoma]] and [[phaeochromocytoma]]. | |||
== | == Interactions == | ||
HAND2 interacts with other transcription factors, such as [[GATA4]], [[NKX2-5]], and [[TBX5]], to regulate gene expression during heart development. These interactions are crucial for the formation of the [[cardiac conduction system]] and the [[cardiac muscle]]. | |||
== Research == | == Research == | ||
Studies on HAND2 have provided insights into the molecular mechanisms underlying heart development and congenital heart disease. Research continues to explore the role of HAND2 in [[stem cell]] differentiation and [[regenerative medicine]]. | |||
[[ | |||
== See | == See Also == | ||
* [[Transcription factor]] | * [[Transcription factor]] | ||
* [[Congenital heart defect]] | * [[Congenital heart defect]] | ||
* [[Neuroblastoma]] | * [[Neuroblastoma]] | ||
== References == | == References == | ||
<references /> | <references/> | ||
[[ | == External Links == | ||
[[Category: | * [https://www.ncbi.nlm.nih.gov/gene/9464 HAND2 Gene - NCBI] | ||
* [https://ghr.nlm.nih.gov/gene/HAND2 HAND2 - Genetics Home Reference] | |||
[[Category:Genes on human chromosome 4]] | |||
[[Category:Transcription factors]] | [[Category:Transcription factors]] | ||
[[Category:Developmental genes and proteins]] | |||
[[Category:Congenital heart defects]] | [[Category:Congenital heart defects]] | ||
Latest revision as of 20:51, 30 December 2024
| Symbol | HAND2 |
|---|---|
| HGNC ID | 14971 |
| Alternative symbols | – |
| Entrez Gene | – |
| OMIM | – |
| RefSeq | – |
| UniProt | – |
| Chromosome | 4q34 |
| Locus supplementary data | – |
HAND2 (Heart and Neural Crest Derivatives Expressed 2) is a gene that encodes a member of the basic helix-loop-helix (bHLH) family of transcription factors. This gene plays a crucial role in the development of the heart, branchial arches, and limbs.
Function[edit]
HAND2 is essential for the proper development of the cardiac outflow tract, right ventricle, and ventricular septum. It is also involved in the formation of the sympathetic nervous system and the peripheral nervous system. HAND2 functions by regulating the expression of other genes during embryogenesis.
Clinical Significance[edit]
Mutations in the HAND2 gene have been associated with congenital heart defects, such as ventricular septal defects and tetralogy of Fallot. HAND2 is also implicated in the development of certain types of cancer, including neuroblastoma and phaeochromocytoma.
Interactions[edit]
HAND2 interacts with other transcription factors, such as GATA4, NKX2-5, and TBX5, to regulate gene expression during heart development. These interactions are crucial for the formation of the cardiac conduction system and the cardiac muscle.
Research[edit]
Studies on HAND2 have provided insights into the molecular mechanisms underlying heart development and congenital heart disease. Research continues to explore the role of HAND2 in stem cell differentiation and regenerative medicine.
See Also[edit]
References[edit]
<references/>
