VAX2 (ventral anterior homeobox 2) is a transcription factor that plays crucial roles in eye development and dorsoventral patterning of the neural retina. VAX2 is specifically expressed in the ventral portion of the developing neural retina and functions to specify ventral eye identity by repressing Pax6 transcription and promoting ventral retinal markers like Pax2 1. The protein exhibits dynamic subcellular localization, shuttling between nucleus and cytoplasm during eye development through phosphorylation of serine residue S170, which is regulated by Sonic hedgehog signaling and protein kinase A 2. VAX2 exists as multiple isoforms in humans, with isoform-1 localizing to the nucleus and isoform-2 showing broader cellular distribution 3. Loss-of-function mutations cause retinal degeneration phenotypes, including cone dystrophy and rod/cone photoreceptor dystrophy with optic atrophy 45. VAX2 is enriched in cone photoreceptor outer segments in primate retina, suggesting ongoing roles in adult retinal function 3. Beyond ocular development, VAX2 has been implicated in triple-negative breast cancer as part of super-enhancer regulatory circuits 6 and shows associations with maternal factors affecting offspring birthweight 7.