Disease-gene associations mined from literature

Literature associating HAND2 and split hand-foot malformation

HAND2 [ENSP00000352565]

Deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2; 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); Basic helix-loop-helix proteins

Synonyms:  HAND2,  HAND2p,  hHAND2,  B3KV85,  P61296 ...

Linkouts:  STRING  Pharos  UniProt  OMIM