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FLASH GENE
Symbol FOXG1 contributors: mct/npt/pgu - updated : 26 -05 -20
HGNC name forkhead box G1
HGNC id 3811
Corresponding disease
DEL14Q12 chromosome 14q12 microdeletion
DEL14QP chromosome 14q proximal deletion
DUP14QP chromosome 14q proximal duplication
RTTL1 Rett-like syndrome-1
Location 14q12      Physical location : 29.236.286 - 29.238.870
Synonym name
  • human brain factor 2
  • forkhead box G1A
  • forkhead box G1B
  • forkhead box G1C
  • transcription factor-like 2
  • forkhead (Drosophila)-like 1
  • forkhead (Drosophila)-like 2
  • forkhead (Drosophila)-like 3
  • forkhead (Drosophila)-like 4
  • QIN avian sarcoma virus (ASV31)
  • oncogene QIN
  • Synonym symbol(s) FKH2L, HBF2, FKHL2, BF2, HBF-2, HBF-G2, HFK2, KHL2, QIN, BF1, HFK1, HFK3, HBF-3, FOXG1A, FOXG1B, FOXG1C, FKHL4, FKHL1, FKHL3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text intronless
    STRUCTURE 2.58 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2600 52 489 - 2008 18571142
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Reproductivefemale systemovary   
     male systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a forkhead(FH, winged helix) domain
  • tThe first 36 AAs of FOXG1 are necessary for its survival-promoting effect, while the C-terminal half of the protein is dispensable
  • two loops-wings on the C-terminal side of helix-turn-helix homeo domain, C-terminal region (aa 175-489) identified as AR-interacting protein
  • HOMOLOGY
    interspecies homolog to Drosophila homeo forkhead DNA binding domain
    Homologene
    FAMILY
  • HNF-3 forkhead family of transcriptional activator
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • embryonic transcriptional regulator, telencephalic trancription factor suppressing the generation of the earliest born neurons, the Cajal-Retzius neuron
  • playing a critical role in brain development
  • brain-specific transcriptional repressor that is essential for early development of the telencephalon
  • in addition to repression of transcription by direct binding to DNA, may interact with AR, thereby targeting its repressor function specifically to sex hormone signaling
  • with EMX2, inhibit gliogenesis and promote neuronogenesis
  • regulates neurogenesis in the embryonic telencephalon as well as a number of other neurodevelopmental processes
  • promotes the survival of postmitotic neurons
  • a new and important function for FOXG1 in differentiated neurons
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    FOXG1 and FOXD1 are potentially located at the top of the gene cascade for regional specification along the nasotemporal (anteroposterior) axis in the retina
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with JARID1B and PAX9
  • cooperates with BMI1 to maintain neural stem cell self renewal
  • AR-interacting protein
  • TLE1 cooperates with FOXG1 to promote neuronal survival in a CK2- and PI3K-Akt-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RTTL1 , DEL14Q12 , DEL14QP , DUP14QP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in mental retardation with microcephaly
    Susceptibility to infantile spasms (ISS)
    Variant & Polymorphism other CNV associated with infantile spasms (ISS)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS