FOXD3
Developmental stage
In spleen levels are higher in adult than in fetal tissue.
Function
Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor (PubMed:11891324). Also acts as a transcriptional activator (PubMed:11891324). Negatively regulates transcription of transcriptional repressor RHIT/ZNF205 (PubMed:22306510). Promotes development of neural crest cells from neural tube progenitors (PubMed:11891324). Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation (PubMed:11891324). Required for maintenance of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis (PubMed:11891324).
Involvement in disease
Autoimmune disease 1
AIS1
An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis).
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in chronic myeloid leukemia, Jurkat T-cell leukemia and teratocarcinoma cell lines, but not in any other cell lines or normal tissues examined.
Cellular localization
- Nucleus
Alternative names
HFH2, FOXD3, Forkhead box protein D3, HNF3/FH transcription factor genesis