FOXG1

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

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; OMA:FOXG1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q12 Start 28,766,787 bp[1] End 28,770,277 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 B3|12 21.78 cM Start 49,429,443 bp[2] End 49,433,644 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 ganglionic eminence Region I of hippocampus proper ventricular zone middle temporal gyrus orbitofrontal cortex entorhinal cortex Brodmann area 46 postcentral gyrus Top expressed in ganglionic eminence medial ganglionic eminence ventricular zone subiculum nucleus accumbens olfactory tubercle Rostral migratory stream lateral septal nucleus anterior amygdaloid area prefrontal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding sequence-specific DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process multicellular organism development ageing brain development negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription, DNA-templated anatomical structure morphogenesis cell differentiation negative regulation of transcription by RNA polymerase II positive regulation of neuroblast proliferation regulation of mitotic cell cycle dorsal/ventral pattern formation regulation of gene expression axon midline choice point recognition pyramidal neuron migration to cerebral cortex central nervous system neuron development cerebral cortex development neurogenesis forebrain development inner ear morphogenesis negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of cell cycle neuron fate determination cell morphogenesis involved in neuron differentiation regulation of cell cycle regulation of neural precursor cell proliferation regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2290 15228 Ensembl ENSG00000176165 ENSMUSG00000020950 UniProt P55316 Q60987 RefSeq (mRNA) NM_005249 NM_001160112 NM_008241 RefSeq (protein) NP_005240 NP_001153584 NP_032267 Location (UCSC) Chr 14: 28.77 – 28.77 Mb Chr 12: 49.43 – 49.43 Mb PubMed search [3] [4]
Wikidata
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Function

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]

Associated disorders

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

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

See also

• FOX proteins