DISEASES

Disease-gene associations mined from literature

Literature associating VAX2 and microphthalmia

VAX2 [ENSP00000234392]

Ventral anterior homeobox 2; Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina; NKL subclass homeoboxes and pseudogenes

Synonyms:  VAX2,  VAX2p,  hVAX2,  F1T0K5,  Q9UIW0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM