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    FOXG1 forkhead box G1 [ Homo sapiens (human) ]

    Gene ID: 2290, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FOXG1provided by HGNC
    Official Full Name
    forkhead box G1provided by HGNC
    Primary source
    HGNC:HGNC:3811
    See related
    Ensembl:ENSG00000176165 MIM:164874; AllianceGenome:HGNC:3811
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BF1; BF2; QIN; FKH2; HBF2; HFK1; HFK2; HFK3; KHL2; FHKL3; FKHL1; FKHL2; FKHL3; FKHL4; HBF-1; HBF-2; HBF-3; FOXG1A; FOXG1B; FOXG1C; HBF-G2
    Summary
    This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]
    Orthologs
    mouse all
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    Genomic context

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    See FOXG1 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (28766787..28770277)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (22964720..22968210)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (29235993..29239483)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene BTF3 pseudogene 2 Neighboring gene FOXG1 antisense RNA 1 Neighboring gene VISTA enhancer hs1064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:29235124-29235648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:29243497-29243996 Neighboring gene long intergenic non-protein coding RNA 1551 Neighboring gene long intergenic non-protein coding RNA 2282 Neighboring gene long intergenic non-protein coding RNA 2281

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice. Frullanti E, et al. Eur J Hum Genet, 2016 Feb. PMID 25966633, Free PMC Article
    2. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus. Santen GW, et al. J Med Genet, 2012 Jun. PMID 22636604
    3. 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Allou L, et al. Eur J Hum Genet, 2012 Dec. PMID 22739344, Free PMC Article
    4. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. Ellaway CJ, et al. Eur J Hum Genet, 2013 May. PMID 22968132, Free PMC Article
    5. Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. Goubau C, et al. Eur J Hum Genet, 2013 Dec. PMID 23632790, Free PMC Article

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
      Title: FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
    2. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
      Title: Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
    3. Elevated FOXG1 in glioblastoma stem cells cooperates with Wnt/beta-catenin to induce exit from quiescence.
      Title: Elevated FOXG1 in glioblastoma stem cells cooperates with Wnt/β-catenin to induce exit from quiescence.
    4. FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.
      Title: FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.
    5. Spatial control of astrogenesis progression by cortical arealization genes.
      Title: Spatial control of astrogenesis progression by cortical arealization genes.
    6. A comprehensive analysis of the FOX family for predicting kidney renal clear cell carcinoma prognosis and the oncogenic role of FOXG1.
      Title: A comprehensive analysis of the FOX family for predicting kidney renal clear cell carcinoma prognosis and the oncogenic role of FOXG1.
    7. Aberrant Expression of COX-2 and FOXG1 in Infrapatellar Fat Pad-Derived ASCs from Pre-Diabetic Donors.
      Title: Aberrant Expression of COX-2 and FOXG1 in Infrapatellar Fat Pad-Derived ASCs from Pre-Diabetic Donors.
    8. FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells.
      Title: FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells.
    9. Zika virus induces FOXG1 nuclear displacement and downregulation in human neural progenitors.
      Title: Zika virus induces FOXG1 nuclear displacement and downregulation in human neural progenitors.
    10. MicroRNA-582-5p regulates cell invasion in bladder cancer through targeting Forkhead Box G1.
      Title: MicroRNA-582-5p regulates cell invasion in bladder cancer through targeting Forkhead Box G1.
    Submit: New GeneRIF Correction See all GeneRIFs (76)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Rett syndrome, congenital variant
    MedGen: C3150705 OMIM: 613454 GeneReviews: FOXG1 Syndrome
    		not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-09)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-03-09)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
    EBI GWAS Catalog
    Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
    EBI GWAS Catalog
    Joint influence of small-effect genetic variants on human longevity.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon midline choice point recognition IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in brain development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron fate determination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pyramidal neuron migration to cerebral cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    forkhead box protein G1
    Names
    brain factor 1
    brain factor 2
    forkhead-like 1
    forkhead-like 2
    forkhead-like 3
    forkhead-like 4
    oncogene QIN

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009367.1 RefSeqGene

      Range
      4707..8197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005249.5 → NP_005240.3  forkhead box protein G1

      See identical proteins and their annotated locations for NP_005240.3

      Status: REVIEWED

      Source sequence(s)
      AL049777, BC035020, DR001113, U44097, X74142
      Consensus CDS
      CCDS9636.1
      UniProtKB/Swiss-Prot
      A6NFY2, P55315, P55316, Q14488, Q86XT7
      Related
      ENSP00000339004.3, ENST00000313071.7
      Conserved Domains (2) summary
      COG5025
      Location:184 → 356
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      cd20021
      Location:181 → 259
      FH_FOXG; Forkhead (FH) domain found in the Forkhead box protein G (FOXG) subfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      28766787..28770277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      22964720..22968210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55316.2 GenPept UniProtKB/Swiss-Prot:P55316

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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