HAND2

HAND2

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

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 defects 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

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

• Transcription factor
• Congenital heart defect
• Neuroblastoma

References

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External Links

• HAND2 Gene - NCBI
• HAND2 - Genetics Home Reference