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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
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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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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
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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

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