Transcription factor that binds to target promoter sequences and activates transcription upon il6st/gp130 stimulation. Mediates ventralization of embryos, at least in part via inhibition of smad2 signa...[+]

Transcription factor that binds to target promoter sequences and activates transcription upon il6st/gp130 stimulation. Mediates ventralization of embryos, at least in part via inhibition of smad2 signaling. Required for hairy2 to induce dll1/delta1 and promote neural crest cell proliferation and differentiation. Involved in TGFbeta-mediated mesoderm induction in early embryos, acting downstream of map3k7/tak1 and nlk.2. [-]

             hyper IgE recurrent infection syndrome 1
             permanent neonatal diabetes mellitus
             T-cell large granular lymphocyte leukemia

          HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES1

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