Involved in the establishment of the body plan via the Spemann organizer during gastrulation. Transcriptional activator required to induce organizer gene expression downstream of siamois. Promotes head...[+]

Involved in the establishment of the body plan via the Spemann organizer during gastrulation. Transcriptional activator required to induce organizer gene expression downstream of siamois. Promotes head formation by binding to 5'-TAAT'-3' elements in the promoters of head organizer genes cer1 and gsc to stimulate expression. Binds as a complex with siamois and mix-A/mix.1 to the cer1 promoter, and with ldb1 and otx2 to the gsc promoter. Also involved in neural induction via the organizer, including a role in notochord formation. Acts synergistically with ldb1 and ssbp in subsequent axis formation. Involved in kidney development, acting synergistically with pax8 to establish the pronephric primordium in late gastrulae/early neurulae and with pax2 during pronephric morphogenesis in tailbud stages. Has a later role in mediating the activity of inhibitors of ventralization. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD