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AliasesFOXG1, BF1, BF2, FHKL3, FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C, HBF-1, HBF-2, HBF-3, HBF-G2, HBF2, HFK1, HFK2, HFK3, KHL2, QIN, forkhead box G1
External IDsOMIM: 164874 MGI: 1347464 HomoloGene: 3843 GeneCards: FOXG1
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 14: 28.77 – 28.77 MbChr 12: 49.43 – 49.43 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.[5][6][7]


This gene belongs to the forkhead family of transcription factors that is characterized by a distinct forkhead domain. The complete function of this gene has not yet been determined; however, it has been shown to play a role in the development of the brain and telencephalon. Mutations of FOXG1 are the cause of FoxG1 Syndrome.[8]

FOXG1 syndrome[edit]

FoxG1 Syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an autism spectrum disorder and was previously considered a variant of Rett syndrome.[9][10]


FOXG1 has been shown to interact with JARID1B.[11]

See also[edit]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176165 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020950 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U (Nov 1994). "Human brain factor 1, a new member of the fork head gene family". Genomics. 21 (3): 551–7. doi:10.1006/geno.1994.1313. PMID 7959731.
  6. ^ Bredenkamp N, Seoighe C, Illing N (Feb 2007). "Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation". Dev Genes Evol. 217 (3): 227–33. doi:10.1007/s00427-006-0128-x. PMID 17260156. S2CID 20867411.
  7. ^ "Entrez Gene: FOXG1B forkhead box G1B".
  8. ^ Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A (2008). "FOXG1 is responsible for the congenital variant of Rett syndrome". Am. J. Hum. Genet. 83 (1): 89–93. doi:10.1016/j.ajhg.2008.05.015. PMC 2443837. PMID 18571142.
  9. ^ "FOXG1 syndrome".
  10. ^ "FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services".
  11. ^ Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (Jun 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635.

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.