Property Summary

NCBI Gene PubMed Count 54
PubMed Score 412.56
PubTator Score 541.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma 7.600 3.9e-10
posterior fossa group A ependymoma -4.200 6.2e-07
cystic fibrosis 7.169 4.5e-10
atypical teratoid / rhabdoid tumor -3.000 2.9e-02
sonic hedgehog group medulloblastoma -3.600 2.6e-02
lung cancer 5.000 4.6e-07
pilocytic astrocytoma -3.700 1.1e-03
psoriasis -1.500 4.6e-03

Synonym

Accession P55316 A6NFY2 P55315 Q14488 Q86XT7
Symbols 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

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (34)

PMID Text
26523971 These findings suggest a central AKT-FOXG1-reelin signaling pathway in focal malformations of cortical development and support pathway inhibitors as potential treatments or therapies for some forms of focal epilepsy.
26455392 EGFR mutations remodel the activated enhancer landscape of glioblastoma multiforme, promoting tumorigenesis through a SOX9 and FOXG1-dependent transcriptional regulatory network in vitro and in vivo.
26433703 We propose that the disruption of signaling pathways that promote mature neuronal differentiation by overexpressed FOXG1 is a contributing event in the neoplastic transformation of cerebellar stem cells.
26364767 FOXG1 mutations are associated with familial recurrence in FOXG1-related disorders.
26186191 Data suggest that a shift toward GABAergic neuron fate caused by FOXG1 is a developmental precursor of autism spectrum disorder.
25966633 these results implicate the overexpression of a group of neuropeptides in the basal ganglia, hypothalamus, cortex and hippocampus in the pathogenesis FOXG1 behavioral impairments.
25565401 The neurological phenotype of FOXG1 haploinsufficiency shows the features of a dyskinetic encephalopathy of infancy.
25251503 critical role in the regulation of hepatocellular carcinoma development
24836831 Genotype-phenotype studies of FOXG1 may help to elucidate why children develop different forms of developmental epilepsy.
24738188 Its mutation causes Rett syndrome.(review)
24356439 transcriptional programmes regulated by FOXG1 and Groucho/TLE are important for BTIC-initiated brain tumour growth, implicating FOXG1 and Groucho/TLE in GBM tumourigenesis
23956198 Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the "FOXG1 syndrome" developmental disorder
23660594 FoxG1 can function as a pro-apoptotic factor in part through suppression of AIB1 coactivator transcription complex formation, thereby reducing the expression of the AIB1 oncogene.
23632790 Reduced FOXG1 levels in patients' platelets having translocations or deletions in that region.
23592496 Authors assessed the functional relevance of two genes, FoxG1 and Bmi1, which were significantly enriched in non-Shh/Wnt MBs and showed these genes to mediate MB stem cell self-renewal and tumor initiation in mice.
22968132 14q12 microdeletions excluding FOXG1, but leading to its misregulation give rise to a congenital variant Rett syndrome-like phenotype.
22739344 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.
22636604 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.
22378868 Foxg1 is critical for dentate gyrus formation, especially during the early postnatal stage.
22129046 FOXG1 mutations are involved in the molecular etiology of the congenital variant of Rett syndrome.
22091895 Alterations in the kinetics of FoxG1 binding to chromatin might contribute to the pathological effects of FOXG1 mutations.
21910242 A small increase in the dosage of FOXG1 could cause infantile spasms.
21536641 West syndrome was associated with 14q12 duplications harboring FOXG1
21441262 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
21368052 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.
21280142 150 patients affected by postnatal microcephaly, and identified two mutations: the c.326C>T (p.P109L) substitution and the c.730C>T transition, which induces the p.R244C mutation within the DNA-binding forkhead domain.
20736978 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.
20728410 Observational study of gene-disease association. (HuGE Navigator)
19806373 two de novo mutations (c.1248C>G, p.Y416X and c.460_461dupG, p.E154GfsX300) were identified in two unrelated girls with Rett syndrome
19578037 these results contribute to the clarification of the phenotype associated with FOXG1, confirming its role in the Rett syndrome spectrum.
19564653 Two different de novo heterozygous FOXG1-truncating mutations were identified. The subject with the p.Trp308X mutation presented with a severe RTT-like neurodevelopmental disorder, while the p.Tyr400X allele was associated with classical RTT symptoms.
18571142 FOXG1 is responsible for the congenital variant of Rett syndrome.
17522785 The expression of FOXG1 showed an inverse relationship. FOXG1 copy gain was seen in 55/59 of a validating set of tumors and showed a positive correlation with protein expression representing the first report of FOXG1 dysregulation in medulloblastoma.
12657635 BF-1 and PAX9 interact with PLU-1 via a novel conserved sequence motif (Ala-X-Ala-Ala-X-Val-Pro-X4-Val-Pro-X8-Pro, termed the VP motif)

AA Sequence

MLDMGDRKEVKMIPKSSFSINSLVPEAVQNDNHHASHGHHNSHHPQHHHHHHHHHHHPPPPAPQPPPPPQ      1 - 70
QQQPPPPPPPAPQPPQTRGAPAADDDKGPQQLLLPPPPPPPPAAALDGAKADGLGGKGEPGGGPGELAPV     71 - 140
GPDEKEKGAGAGGEEKKGAGEGGKDGEGGKEGEKKNGKYEKPPFSYNALIMMAIRQSPEKRLTLNGIYEF    141 - 210
IMKNFPYYRENKQGWQNSIRHNLSLNKCFVKVPRHYDDPGKGNYWMLDPSSDDVFIGGTTGKLRRRSTTS    211 - 280
RAKLAFKRGARLTSTGLTFMDRAGSLYWPMSPFLSLHHPRASSTLSYNGTTSAYPSHPMPYSSVLTQNSL    281 - 350
GNNHSFSTANGLSVDRLVNGEIPYATHHLTAAALAASVPCGLSVPCSGTYSLNPCSVNLLAGQTSYFFPH    351 - 420
VPHPSMTSQSSTSMSARAASSSTSPQAPSTLPCESLRPSLPSFTTGLSGGLSDYFTHQNQGSSSNPLIH     421 - 489
//

Text Mined References (55)

PMID Year Title
26523971 2015 An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.
26455392 2015 EGFR Mutation Promotes Glioblastoma through Epigenome and Transcription Factor Network Remodeling.
26433703 2015 FOXG1 expression shows correlation with neuronal differentiation in cerebellar development, aggressive phenotype in medulloblastomas, and survival in a xenograft model of medulloblastoma.
26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
26186191 2015 FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders.
25966633 2016 Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.
25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.
25251503 2015 Double-negative feedback loop between microRNA-422a and forkhead box (FOX)G1/Q1/E1 regulates hepatocellular carcinoma tumor growth and metastasis.
24836831 2014 Epilepsy and outcome in FOXG1-related disorders.
24825563 2014 Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.
24738188 2014 [Clinical features in Rett syndrome: MECP2-, CDKL5- and FOXG1- related disorders].
24356439 2013 Transcription factors FOXG1 and Groucho/TLE promote glioblastoma growth.
23956198 2013 Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.
23660594 2013 Transcriptional repression of AIB1 by FoxG1 leads to apoptosis in breast cancer cells.
23632790 2013 Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
23592496 2013 FoxG1 interacts with Bmi1 to regulate self-renewal and tumorigenicity of medulloblastoma stem cells.
22968132 2013 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
22739344 2012 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
22636604 2012 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.
22378868 2012 Foxg1 has an essential role in postnatal development of the dentate gyrus.
22129046 2012 FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.
22091895 2012 Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
21910242 2011 West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
21536641 2011 West syndrome associated with 14q12 duplications harboring FOXG1.
21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
21368052 2011 MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors.
21280142 2011 A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
20834067 2010 Joint influence of small-effect genetic variants on human longevity.
20802204 2010 Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
20736978 2011 Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
20728410 2010 Epilepsy in Rett syndrome: clinical and genetic features.
19806373 2010 Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
19564653 2010 Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.
17522785 2007 FOXG1 dysregulation is a frequent event in medulloblastoma.
17260156 2007 Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation.
16133170 2005 Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15084259 2004 Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation.
12657635 2003 Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11387330 2001 Functional cloning of the proto-oncogene brain factor-1 (BF-1) as a Smad-binding antagonist of transforming growth factor-beta signaling.
11238932 2001 The winged-helix protein brain factor 1 interacts with groucho and hes proteins to repress transcription.
10938097 2000 BF-1 interferes with transforming growth factor beta signaling by associating with Smad partners.
10498272 1999 Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres.
10373304 1999 Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression.
8170957 1994 The human homologue of the retroviral oncogene qin maps to chromosome 14q13.
8099441 1993 The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head.
7959731 1994 Human brain factor 1, a new member of the fork head gene family.
7957066 1994 Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending.
7599184 1995 The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q.
7585630 1995 The oncogene qin codes for a transcriptional repressor.