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 • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding • transcription factor activity, sequence-specific DNA binding • protein binding Cellular component • nuclear chromatin • nucleus • nucleoplasm Biological process • negative regulation of transcription from RNA polymerase II promoter • in utero embryonic development • trophectodermal cell differentiation • embryonic placenta development • transcription, DNA-templated • anatomical structure morphogenesis • cell differentiation • somatic stem cell maintenance • positive regulation of transcription from RNA polymerase II promoter 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: 63.32 – 63.33 Mb	Chr 4: 99.66 – 99.66 Mb
PubMed search

Forkhead box D3 also known as FOXD3 is a forkhead protein that in humans is encoded by the FOXD3 gene.^[1]

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).^[2]

Clinical significance

Mutations in this gene cause vitiligo.^[3]

References

1. Hromas R, Moore J, Johnston T, Socha C, Klemsz M (June 1993). "Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells". Blood 81 (11): 2854–9. PMID 8499623.
2. Yaklichkin S, Steiner AB, Lu Q, Kessler DS. (2007). "FoxD3 and Grg4 physically interact to repress transcription and induce mesoderm in Xenopus.". J Biol Chem 282 (4): 2548–5. doi:10.1074/jbc.M607412200. PMC 1780074. PMID 17138566.
3. Alkhateeb A, Fain PR, Spritz RA (August 2005). "Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo". J. Invest. Dermatol. 125 (2): 388–91. doi:10.1111/j.0022-202X.2005.23822.x. PMID 16098053.

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.