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FOXG1
Identifiers
Aliases	FOXG1, 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 IDs	OMIM: 164874 MGI: 1347464 HomoloGene: 3843 GeneCards: FOXG1
Gene location (Human)
Chr.	Chromosome 14 (human)
End	28,770,277 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	49,433,644 bp
RNA expression pattern
	Top expressed in
	Top expressed in
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
	Sources:Amigo / QuickGO
Orthologs
	2290
	15228
	ENSG00000176165
	ENSMUSG00000020950
	P55316
	Q60987
	NM_005249
	NM_001160112; NM_008241
	NP_005240
	NP_001153584; NP_032267
	Wikidata
View/Edit Human	View/Edit Mouse

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

Function[edit]

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]

Interactions[edit]

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

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000176165 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020950 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: FOXG1B forkhead box G1B".
^ 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.
^ "FOXG1 syndrome".
^ "FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services".
^ 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.

External links[edit]

International FoxG1 Foundation Information for FOXG1 families
FOXG1 Research Foundation Info on FOXG1 syndrome
The Children's Rare Disorders Fund Info on FOXG1 syndrome
FOXG1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000176165 - Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid7959731-5] 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.

[pmid17260156-6] 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.

[entrez-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".

[pmid12657635-11] 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.

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Function[edit]

FOXG1 syndrome[edit]

Interactions[edit]

See also[edit]

References[edit]

Further reading[edit]

External links[edit]

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