External Ids for VAX2 Gene
Previous GeneCards Identifiers for VAX2 Gene
This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
GeneCards Summary for VAX2 Gene
VAX2 (Ventral Anterior Homeobox 2) is a Protein Coding gene. Diseases associated with VAX2 include Astigmatism and Coloboma Of Macula. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin DNA binding. An important paralog of this gene is VAX1.
UniProtKB/Swiss-Prot for VAX2 Gene
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.