FOXD3

Forkhead box D3
PDB rendering based on 2hfh.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2hdc, 2hfh
Identifiers
Symbols	FOXD3 ; AIS1; Genesis; HFH2; VAMAS2
External IDs	OMIM: 611539 MGI: 1347473 HomoloGene: 49239 GeneCards: FOXD3 Gene
Gene ontology Molecular function • RNA polymerase II regulatory region sequence-specific DNA binding • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription • double-stranded DNA binding • sequence-specific DNA binding transcription factor activity • RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity • protein binding • transcription factor binding • DNA binding, bending Cellular component • nuclear chromatin • transcription factor complex Biological process • negative regulation of transcription from RNA polymerase II promoter • branching involved in ureteric bud morphogenesis • in utero embryonic development • neural crest cell migration • kidney development • trophectodermal cell differentiation • embryonic placenta development • pattern specification process • peripheral nervous system development • melanocyte differentiation • positive regulation of transcription from RNA polymerase II promoter • enteric nervous system development • sympathetic nervous system development • axon extension involved in axon guidance • lateral line nerve glial cell development • iridophore differentiation • regulation of sequence-specific DNA binding transcription factor activity • cartilage development Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	27022	15221
Ensembl	ENSG00000187140	ENSMUSG00000067261
UniProt	Q9UJU5	Q61060
RefSeq (mRNA)	NM_012183	NM_010425
RefSeq (protein)	NP_036315	NP_034555
Location (UCSC)	Chr 1: 63.79 – 63.79 Mb	Chr 4: 99.66 – 99.66 Mb
PubMed search	[1]	[2]

Forkhead box D3 also known as FOXD3 is a forkhead protein that in humans is encoded by the FOXD3 gene.

Function

This gene belongs to the forkhead protein family of transcription factors which is characterized by a DNA-binding forkhead domain. FoxD3 functions as a transcriptional repressor and contains the C-terminal engrailed homology-1 motif (eh1), which provides an interactive surface with a transcriptional co-repressor Grg4 (Groucho-related gene-4).

Clinical significance

Mutations in this gene cause vitiligo.

Further reading

• Guo Y, Costa R, Ramsey H et al. (2002). "The embryonic stem cell transcription factors Oct-4 and FoxD3 interact to regulate endodermal-specific promoter expression.". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 3663–7. doi:10.1073/pnas.062041099. PMC 122580. PMID 11891324. 
• Levy D, Larson MG, Benjamin EJ et al. (2007). "Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.". BMC Med. Genet. 8 Suppl 1: S3. doi:10.1186/1471-2350-8-S1-S3. PMC 1995621. PMID 17903302. 
• Saleem RA, Banerjee-Basu S, Berry FB et al. (2001). "Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.". American Journal of Human Genetics 68 (3): 627–41. doi:10.1086/318792. PMC 1274476. PMID 11179011. 
• Gregory SG, Barlow KF, McLay KE et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414. 
• Buescher JL, Martinez LB, Sato S et al. (2009). "YY1 and FoxD3 regulate antiretroviral zinc finger protein OTK18 promoter activation induced by HIV-1 infection.". J Neuroimmune Pharmacol 4 (1): 103–15. doi:10.1007/s11481-008-9139-x. PMC 2680142. PMID 19034670.