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    FOXG1 forkhead box G1 [ Homo sapiens (human) ]

    Gene ID: 2290, updated on 23-Nov-2021

    Summary

    Official Symbol
    FOXG1provided by HGNC
    Official Full Name
    forkhead box G1provided by HGNC
    Primary source
    HGNC:HGNC:3811
    See related
    Ensembl:ENSG00000176165 MIM:164874
    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

    See FOXG1 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (28766787..28770277)
    105.20201022 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 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.
    GeneReviews: Not available
    Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
    GeneReviews: Not available
    Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
    GeneReviews: Not available
    Joint influence of small-effect genetic variants on human longevity.
    GeneReviews: Not available
    Rett syndrome, congenital variant
    MedGen: C3150705 OMIM: 613454 GeneReviews: Not available
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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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 

    General protein information

    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_005249.5NP_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
      P55316
      Related
      ENSP00000339004.3, ENST00000313071.7
      Conserved Domains (2) summary
      COG5025
      Location:184356
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      cd20021
      Location:181259
      FH_FOXG; Forkhead (FH) domain found in the Forkhead box protein G (FOXG) subfamily

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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