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FOXG1 forkhead box G1 [ Homo sapiens (human) ]

Gene ID: 2290, updated on 22-Aug-2020

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

Genomic context

See FOXG1 in Genome Data Viewer
Location:
14q12
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (28766787..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 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
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

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
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
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 by RNA polymerase II 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
 
positive regulation of neuron differentiation 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
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

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)

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]
    pfam00250
    Location:181266
    Forkhead; Forkhead domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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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