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FLASH GENE

Symbol

FOXG1

contributors: mct/npt/pgu - updated : 28-03-2015

HGNC name	forkhead box G1
HGNC id	3811

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL14Q12 chromosome 14q12 microdeletion DEL14QP chromosome 14q proximal deletion DUP14QP chromosome 14q proximal duplication RTTL1 Rett-like syndrome-1
Location	14q12      Physical location : 29.236.286 - 29.238.870
Synonym name	human brain factor 2
	forkhead box G1A
	forkhead box G1B
	forkhead box G1C
	transcription factor-like 2
	forkhead (Drosophila)-like 1
	forkhead (Drosophila)-like 2
	forkhead (Drosophila)-like 3
	forkhead (Drosophila)-like 4
	QIN avian sarcoma virus (ASV31)
	oncogene QIN
Synonym symbol(s)	FKH2L, HBF2, FKHL2, BF2, HBF-2, HBF-G2, HFK2, KHL2, QIN, BF1, HFK1, HFK3, HBF-3, FOXG1A, FOXG1B, FOXG1C, FKHL4, FKHL1, FKHL3

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	intronless
STRUCTURE	3.20 kb     1 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005249 1 - 3215 NP_005240 52 489 - 2008 18571142

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain limbic system hippocampus dentate gyrus   Homo sapiens Reproductive female system ovary         male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Homo sapiens Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a forkhead(FH, winged helix) domain
	tThe first 36 AAs of FOXG1 are necessary for its survival-promoting effect, while the C-terminal half of the protein is dispensable
	two loops-wings on the C-terminal side of helix-turn-helix homeo domain, C-terminal region (aa 175-489) identified as AR-interacting protein

HOMOLOGY

interspecies

homolog to Drosophila homeo forkhead DNA binding domain

Homologene

FAMILY

HNF-3 forkhead family of transcriptional activator

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	embryonic transcriptional regulator, telencephalic trancription factor suppressing the generation of the earliest born neurons, the Cajal-Retzius neuron
	playing a critical role in brain development
	brain-specific transcriptional repressor that is essential for early development of the telencephalon
	in addition to repression of transcription by direct binding to DNA, may interact with AR, thereby targeting its repressor function specifically to sex hormone signaling
	with EMX2, inhibit gliogenesis and promote neuronogenesis
	regulates neurogenesis in the embryonic telencephalon as well as a number of other neurodevelopmental processes
	promotes the survival of postmitotic neurons
	a new and important function for FOXG1 in differentiated neurons
	may be necessary for the maintenance of the dentate gyrus (DG) progenitor pool and the lack of FOXG1 promotes both gliogenesis and neurogenesis
	transcriptional repressor essential for early development of the telencephalon
	is a transcription factor essential for telencephalic specification, the mutation of which leads to microcephaly and mental retardation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

FOXG1 and FOXD1 are potentially located at the top of the gene cascade for regional specification along the nasotemporal (anteroposterior) axis in the retina

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	interacting with JARID1B and PAX9
	cooperates with BMI1 to maintain neural stem cell self renewal
	AR-interacting protein
	TLE1 cooperates with FOXG1 to promote neuronal survival in a CK2- and PI3K-Akt-dependent manner
	promotes ventral telencephalic fates through transient regulation of FOXG1A expression and repression of the WNT/CTNNB pathway
	FOXG1 binds to mammalian-specific noncoding sequences to repress over 12 transcription factors expressed in early progenitors, including EBF2/3, DMRT3, DMRTA1, and EYA2
	can function as a pro-apoptotic factor in part through suppression of NCOA3 coactivator transcription complex formation, thereby reducing the expression of the NCOA3 oncogene

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RTTL1 , DEL14Q12 , DEL14QP , DUP14QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in mental retardation with microcephaly constitutional     --other   haploinsufficiencyof FOXG1 is an emerging cause of dyskinetic encephalopathy of infancy 1)

Susceptibility

to infantile spasms (ISS)

Variant & Polymorphism other	CNV associated with infantile spasms (ISS)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS