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    FOXG1 forkhead box G1 [ Homo sapiens (human) ]

    Gene ID: 2290, updated on 27-Jun-2015
    Official Symbol
    FOXG1provided by HGNC
    Official Full Name
    forkhead box G1provided by HGNC
    Primary source
    HGNC:HGNC:3811
    See related
    HPRD:01283; 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 forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Feb 2012]
    Orthologs
    See FOXG1 in Epigenomics, MapViewer
    Location:
    14q13
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (28767072..28770277)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (29236278..29239483)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene basic transcription factor 3, pseudogene 2 Neighboring gene FOXG1 antisense RNA 1 (head to head) Neighboring gene long intergenic non-protein coding RNA 1551 Neighboring gene uncharacterized LOC105370424 Neighboring gene uncharacterized LOC105370423

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Rett syndrome, congenital variant
    MedGen: C3150705 OMIM: 613454 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-08)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    forkhead box protein G1
    Names
    forkhead box protein G1
    brain factor 1
    brain factor 2
    forkhead-like 1
    forkhead-like 2
    forkhead-like 3
    forkhead-like 4
    oncogene QIN

    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
      4992..8197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005249.4NP_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
      Conserved Domains (1) summary
      cd00059
      Location:181258
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

      Range
      28767072..28770277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      29235018..29238135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)