Aliases for HAND2 Gene
External Ids for HAND2 Gene
Previous GeneCards Identifiers for HAND2 Gene
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]
GeneCards Summary for HAND2 Gene
HAND2 (Heart And Neural Crest Derivatives Expressed 2) is a Protein Coding gene. Diseases associated with HAND2 include Saethre-Chotzen Syndrome and Split Hand-Foot Malformation. Among its related pathways are NFAT and Cardiac Hypertrophy and TarBasePathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is HAND1.
UniProtKB/Swiss-Prot for HAND2 Gene
Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and neck. Binds DNA on E-box consensus sequence 5-CANNTG-3 (By similarity).