FOXG1 forkhead box G1 [Homo sapiens (human)] - Gene

Summary

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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]

Genomic context

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Location :: 14q13

Sequence :: Chromosome: 14; NC_000014.8 (29236278..29239483)

See FOXG1 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

In fibroblast cells, a cis-acting regulatory sequence located more than 0.6 Mb away from FOXG1 acts as a silencer at the transcriptional level.
Title: 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
FOXG1 mutations are involved in the molecular etiology of the congenital variant of Rett syndrome.
Title: FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.
Alterations in the kinetics of FoxG1 binding to chromatin might contribute to the pathological effects of FOXG1 mutations.
Title: Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
The authors show that deletions including 14q13 result in a recognisable phenotype mainly due to haploinsufficiency of two genes (NKX2-1, PAX9). FOXG1 (on chromosome band 14q12) involvement seems to be the main determinant of phenotype severity.
Title: 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.
Foxg1 is critical for dentate gyrus formation, especially during the early postnatal stage.
Title: Foxg1 has an essential role in postnatal development of the dentate gyrus.
A small increase in the dosage of FOXG1 could cause infantile spasms.
Title: West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Title: The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
West syndrome was associated with 14q12 duplications harboring FOXG1
Title: West syndrome associated with 14q12 duplications harboring FOXG1.
Transgenic mice lacking microRNAs miR-9-2 and miR-9-3 exhibit multiple defects in their telencephalic structures which may be brought about by dysregulation of Foxg1, Nr2e1, Gsh2, and Meis2 expression.
Title: MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors.
We report a series of seven cases of patients with FIXG1 gebe duplications in 14q associated with developmental delay/mental retardation and speech delay as predominant features, as well as developmental epilepsy in the majority.
Title: Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Submit: New GeneRIF Correction See all (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Rett syndrome, congenital variant

MIM: 613454

Genetic Testing Registry

NHGRI GWAS Catalog

Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.

Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.

Joint influence of small-effect genetic variants on human longevity.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_005240.3	NP_002006.2	FOXO1	BIND	PubMed	FoxO1 interacts with FoxG1. This interaction was modelled on an interaction demonstrated between FoxO1 from an unspecified species and mouse FoxG1.
NP_005240.3	NP_001446.1	FOXO3	BIND	PubMed	FoxO3 interacts with FoxG1.
NP_005240.3	NP_005929.1	FOXO4	BIND	PubMed	FoxO4 interacts with FoxG1. This interaction was modelled on a demonstrated interaction between human FoxO4 and mouse FoxG1.
P55315	P26641	EEF1G	HPRD	PubMed
P55315	O75593	FOXH1	HPRD	PubMed
P55315	Q12778	FOXO1	HPRD	PubMed
P55315	O43524	FOXO3	HPRD	PubMed
P55315	P98177	FOXO4	HPRD	PubMed
P55315	O60383	GDF9	HPRD	PubMed
P55315	Q13547	HDAC1	HPRD	PubMed
P55315	Q14469	HES1	HPRD	PubMed
P55315	PLU 1	KDM5B	HPRD	PubMed
P55315	Q15797	SMAD1	HPRD	PubMed
P55315	Q15796	SMAD2	HPRD	PubMed
P55315	P84022	SMAD3	HPRD	PubMed
P55315	Q13485	SMAD4	HPRD	PubMed
P55315	Q04724	TLE1	HPRD	PubMed
P55315	Q04726	TLE3	HPRD	PubMed
P55316	O75593	FOXH1	HPRD	PubMed
BioGRID:108580	BioGRID:106845	APOE	BioGRID	PubMed	Two-hybrid
BioGRID:108580	BioGRID:108257	EEF1G	BioGRID	PubMed	Two-hybrid
BioGRID:108580	BioGRID:114442	FOXH1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108580	BioGRID:108930	GDF9	BioGRID	PubMed	Two-hybrid
BioGRID:108580	BioGRID:115984	KDM5B	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108580	BioGRID:116593	SIRT2	BioGRID	PubMed	Positive Genetic
BioGRID:108580	BioGRID:116982	SIRT3	BioGRID	PubMed	Positive Genetic
BioGRID:108580	BioGRID:110261	SMAD1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108580	BioGRID:112943	TLE1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108580	BioGRID:113041	TRAF6	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
Regulation of nuclear SMAD2/3 signaling
TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...

General gene information

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Markers

FOXG1B_455 (e-PCR)
- UniSTS:277251

Foxg1 (e-PCR), detects polymorphism
- UniSTS:164909

SHGC-12931 (e-PCR)
- UniSTS:63072

SGC34532 (e-PCR)
- UniSTS:18020

D14S103E (e-PCR)
- UniSTS:472997

WI-19182 (e-PCR)
- UniSTS:30158

UniSTS:225243 (e-PCR)
- UniSTS:225243

Foxg1 (e-PCR), detects polymorphism
- UniSTS:527351

Genotypes

See FOXG1 SNP Geneview Report
See FOXG1 SNP Genotype Report
See FOXG1 SNP Variation Viewer Report

Homology

Homologs of the FOXG1 gene: The FOXG1 gene is conserved in cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	TAS Traceable Author Statement more info	PubMed
DNA binding, bending	IBA Inferred from Biological aspect of Ancestor more info
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
aging	IEA Inferred from Electronic Annotation more info
axon midline choice point recognition	IBA Inferred from Biological aspect of Ancestor more info
brain development	TAS Traceable Author Statement more info	PubMed
central nervous system neuron development	IBA Inferred from Biological aspect of Ancestor more info
dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
embryo development ending in birth or egg hatching	IBA Inferred from Biological aspect of Ancestor more info
forebrain development	IEA Inferred from Electronic Annotation more info
hindbrain development	IBA Inferred from Biological aspect of Ancestor more info
inner ear morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
negative regulation of neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
negative regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
nonmotile primary cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
nose development	IBA Inferred from Biological aspect of Ancestor more info
positive regulation of cell cycle	IBA Inferred from Biological aspect of Ancestor more info
positive regulation of neuroblast proliferation	IBA Inferred from Biological aspect of Ancestor more info
positive regulation of transcription from RNA polymerase II promoter	IBA Inferred from Biological aspect of Ancestor more info
regulation of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
regulation of sequence-specific DNA binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info
tissue development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
nucleus	NAS Non-traceable Author Statement more info
transcription factor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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

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

NG_009367.1 RefSeqGene

Range

4992..8197

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005249.4 → NP_005240.3 forkhead box protein G1

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:182 – 258
Blast Score: 379

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 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p10 Primary Assembly

Range

29236278..29239483

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

9354165..9356212

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018925.1 Alternate CHM1_1.0

Range

10236307..10238892

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01061377.1 (59266..61313)	None
genomic	AL049777.5 (92721..95828)	None
genomic	AMYH01005630.1	None
genomic	CH471078.2	EAW65978.1
genomic	X78202.1	CAA55038.1
mRNA	BC035020.2	None
mRNA	BC040960.1	None
mRNA	BC050072.1	AAH50072.1
mRNA	DR001113.1	None
mRNA	U44097.1	None
mRNA	X74142.1	CAA52239.1
mRNA	X74143.1	CAA52240.1
mRNA	X74144.1	CAA52241.1