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

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; AllianceGenome:HGNC:3811
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: mouse all
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Genomic context

Location:: 14q12

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (28766787..28770277)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (22964720..22968210)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (29235993..29239483)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Elevated FOXG1 in glioblastoma stem cells cooperates with Wnt/beta-catenin to induce exit from quiescence.
Title: Elevated FOXG1 in glioblastoma stem cells cooperates with Wnt/β-catenin to induce exit from quiescence.
FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.
Title: FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.
Spatial control of astrogenesis progression by cortical arealization genes.
Title: Spatial control of astrogenesis progression by cortical arealization genes.
A comprehensive analysis of the FOX family for predicting kidney renal clear cell carcinoma prognosis and the oncogenic role of FOXG1.
Title: A comprehensive analysis of the FOX family for predicting kidney renal clear cell carcinoma prognosis and the oncogenic role of FOXG1.
Aberrant Expression of COX-2 and FOXG1 in Infrapatellar Fat Pad-Derived ASCs from Pre-Diabetic Donors.
Title: Aberrant Expression of COX-2 and FOXG1 in Infrapatellar Fat Pad-Derived ASCs from Pre-Diabetic Donors.
FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells.
Title: FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells.
Zika virus induces FOXG1 nuclear displacement and downregulation in human neural progenitors.
Title: Zika virus induces FOXG1 nuclear displacement and downregulation in human neural progenitors.
MicroRNA-582-5p regulates cell invasion in bladder cancer through targeting Forkhead Box G1.
Title: MicroRNA-582-5p regulates cell invasion in bladder cancer through targeting Forkhead Box G1.
CircRNA circ_0067772 aggravates the malignant progression of cutaneous squamous cell carcinoma by regulating miR-1238-3p/FOXG1 axis.
Title: CircRNA circ_0067772 aggravates the malignant progression of cutaneous squamous cell carcinoma by regulating miR-1238-3p/FOXG1 axis.
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.
Title: Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.

Submit: New GeneRIF Correction See all GeneRIFs (75)

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

Associated conditions

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

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

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
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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 DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
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 neuroblast proliferation	IEA Inferred from Electronic Annotation more info
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

Component	Evidence Code	Pubs
part_of 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

General protein information

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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

NG_009367.1 RefSeqGene

Range

4707..8197

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005249.5 → NP_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

A6NFY2, P55315, P55316, Q14488, Q86XT7

Related

ENSP00000339004.3, ENST00000313071.7

Conserved Domains (2) summary

COG5025
Location:184 → 356

COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]

cd20021
Location:181 → 259

FH_FOXG; Forkhead (FH) domain found in the Forkhead box protein G (FOXG) subfamily