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FOXG1 forkhead box G1 [ Homo sapiens (human) ]

Gene ID: 2290, updated on 12-Apr-2014
Official Symbol
FOXG1provided by HGNC
Official Full Name
forkhead box G1provided by HGNC
Primary source
HGNC:3811
See related
Ensembl:ENSG00000176165; HPRD:01283; MIM:164874; Vega:OTTHUMG00000140187
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]
Location :
14q13
Sequence :
Chromosome: 14; NC_000014.9 (28767072..28770277)
See FOXG1 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 12 Neighboring gene basic transcription factor 3, pseudogene 2 Neighboring gene chromosome 14 open reading frame 23 Neighboring gene uncharacterized LOC102724917

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Rett syndrome, congenital variant
MedGen: C3150705 OMIM: 613454 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
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
 
axon midline choice point recognition IEA
Inferred from Electronic Annotation
more info
 
brain development TAS
Traceable Author Statement
more info
PubMed 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
neuron fate determination IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
pyramidal neuron migration IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
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
oncogene QIN
brain factor 1
brain factor 2
forkhead-like 1
forkhead-like 2
forkhead-like 3
forkhead-like 4

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 proteins identical to NP_005240.3

    Status: REVIEWED

    Source sequence(s)
    AL049777, BC035020, DR001113, U44097, X74142
    Consensus CDS
    CCDS9636.1
    UniProtKB/Swiss-Prot
    P55316
    Related
    ENSP00000339004, OTTHUMP00000178764, ENST00000313071, OTTHUMT00000276559
    Conserved Domains (1) summary
    cd00059
    Location:181258
    Blast Score: 438
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38 Primary Assembly

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

Alternate HuRef

Genomic

  1. AC_000146.1 Alternate HuRef

    Range
    9354165..9356212
    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)

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