FOXO3 (forkhead box O3A)

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FOXO3 (forkhead box O3A)

Written	1998-04	Olivier Bernard
		Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France

(Note : for Links provided by Atlas : click)

Identity

Alias_names	FKHRL1
	FOXO3A
Alias_symbol (synonym)	AF6q21
	FOXO2
Other alias	AF6q21 (ALL1 fused gene from chromosome 6q21)
	FKHRL1 (forkhead homolog rhabdomyosarcoma like 1)
HGNC (Hugo)	FOXO3
LocusID (NCBI)	2309
Atlas_Id	125
Location	6q21 [Link to chromosome band 6q21]
Location_base_pair	Starts at 108559823 and ends at 108684768 bp from pter ( according to hg19-Feb_2009) [Mapping FOXO3.png]


	Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

FOXO3 (6q21) / CHD7 (8q12.2)	FOXO3 (6q21) / FOXN3 (14q31.3)	FOXO3 (6q21) / KMT2A (11q23.3)
FOXO3 (6q21) / SEPT1 (16p11.2)	GSN (9q33.2) / FOXO3 (6q21)	KMT2A (11q23.3) / FOXO3 (6q21)
NEMF (14q21.3) / FOXO3 (6q21)	PPM1G (2p23.3) / FOXO3 (6q21)	TAT (16q22.2) / FOXO3 (6q21)

DNA/RNA

Transcription

6 kb transcript with a 3.2 kb mRNA complete cds; coding sequence: CDS 925..2946

Protein



Description	673 amino acids; NH2 -- similarity region with AFX and FKHR -- Forkhead motif -- COOH
Expression	wide
Localisation	nuclear (potential)
Function	may be a transcription regulator
Homology	AFX, involved in the t(X;11)(q13;q23), and FHKR, involved in rabdomyosarcoma; with also a similar breakpoint location within the forkhead motif

Implicated in

Note

Entity	t(6;11)(q21;q23)/AML --> KMT2A - FOXO3
Disease	treatment related AML, M5 type
Hybrid/Mutated Gene	5' MLL - 3' AF6q2
Abnormal Protein	240 kDa protein with about 1400 amino acids from N-term MLL fused to 446 amino acids from AF6q21 C-term; the reciprocal may be expressed

Bibliography

Cloning and characterization of three human forkhead genes that comprise an FKHR-like gene subfamily.

Anderson MJ, Viars CS, Czekay S, Cavenee WK, Arden KC

Genomics. 1998 ; 47 (2) : 187-199.

PMID 9479491

AF6q21, a novel partner of the MLL gene in t(6;11)(q21;q23), defines a forkhead transcriptional factor subfamily.

Hillion J, Le Coniat M, Jonveaux P, Berger R, Bernard OA

Blood. 1997 ; 90 (9) : 3714-3719.

PMID 9345057

Citation

This paper should be referenced as such :

Bernard, O

FOXO3A (forkhead box O3A)

Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):73-73.

Free journal version : [ pdf ] [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Genes/AF6q21ID125.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]

11q23 rearrangements (KMT2A) in leukaemia
Aggressive natural killer leukemia (ANKL)
del(6q)
i(6)(p10)
t(6;11)(q21;q23) KMT2A/FOXO3

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]

t(6;8)(q21;q12) FOXO3/CHD7

External links

	Nomenclature
HGNC (Hugo)	FOXO3 3821
	Cards
Atlas	AF6q21ID125
Entrez_Gene (NCBI)	FOXO3 2309 forkhead box O3
Aliases	AF6q21; FKHRL1; FKHRL1P2; FOXO2;
	FOXO3A
GeneCards (Weizmann)	FOXO3
Ensembl hg19 (Hinxton)	ENSG00000118689 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000118689 [Gene_View] ENSG00000118689 [Sequence] chr6:108559823-108684768 [Contig_View] FOXO3 [Vega]
ICGC DataPortal	ENSG00000118689
TCGA cBioPortal	FOXO3
AceView (NCBI)	FOXO3
Genatlas (Paris)	FOXO3
WikiGenes	2309
SOURCE (Princeton)	FOXO3
Genetics Home Reference (NIH)	FOXO3
	Genomic and cartography
GoldenPath hg38 (UCSC)	FOXO3 - chr6:108559823-108684768 + 6q21 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	FOXO3 - 6q21 [Description] (hg19-Feb_2009)
Ensembl	FOXO3 - 6q21 [CytoView hg19] FOXO3 - 6q21 [CytoView hg38]
Mapping of homologs : NCBI	FOXO3 [Mapview hg19] FOXO3 [Mapview hg38]
OMIM	602681
	Gene and transcription
Genbank (Entrez)	AB072905 AF032886 AI554317 AJ001589 AK024103
RefSeq transcript (Entrez)	NM_001455 NM_201559
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	FOXO3
Cluster EST : Unigene	Hs.220950 [ NCBI ]
CGAP (NCI)	Hs.220950
Alternative Splicing Gallery	ENSG00000118689
Gene Expression	FOXO3 [ NCBI-GEO ] FOXO3 [ EBI - ARRAY_EXPRESS ] FOXO3 [ SEEK ] FOXO3 [ MEM ]
Gene Expression Viewer (FireBrowse)	FOXO3 [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	2309
GTEX Portal (Tissue expression)	FOXO3
Human Protein Atlas	ENSG00000118689-FOXO3 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	O43524 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	O43524 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	O43524
Splice isoforms : SwissVar	O43524
PhosPhoSitePlus	O43524
Domaine pattern : Prosite (Expaxy)	FORK_HEAD_2 (PS00658) FORK_HEAD_3 (PS50039)
Domains : Interpro (EBI)	Fork_head_dom FOXO-TAD FOXO_KIX-bd TF_fork_head_CS_2 WH-like_DNA-bd_sf WH_DNA-bd_sf
Domain families : Pfam (Sanger)	Forkhead (PF00250) FOXO-TAD (PF16676) FOXO_KIX_bdg (PF16675)
Domain families : Pfam (NCBI)	pfam00250 pfam16676 pfam16675
Domain families : Smart (EMBL)	FH (SM00339)
Conserved Domain (NCBI)	FOXO3
DMDM Disease mutations	2309
Blocks (Seattle)	FOXO3
PDB (SRS)	2K86 2LQH 2LQI 2UZK
PDB (PDBSum)	2K86 2LQH 2LQI 2UZK
PDB (IMB)	2K86 2LQH 2LQI 2UZK
PDB (RSDB)	2K86 2LQH 2LQI 2UZK
Structural Biology KnowledgeBase	2K86 2LQH 2LQI 2UZK
SCOP (Structural Classification of Proteins)	2K86 2LQH 2LQI 2UZK
CATH (Classification of proteins structures)	2K86 2LQH 2LQI 2UZK
Superfamily	O43524
Human Protein Atlas [tissue]	ENSG00000118689-FOXO3 [tissue]
Peptide Atlas	O43524
HPRD	04061
IPI	IPI00878632
	Protein Interaction databases
DIP (DOE-UCLA)	O43524
IntAct (EBI)	O43524
FunCoup	ENSG00000118689
BioGRID	FOXO3
STRING (EMBL)	FOXO3
ZODIAC	FOXO3
	Ontologies - Pathways
QuickGO	O43524
Ontology : AmiGO	negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II RNA polymerase II proximal promoter sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcription cofactor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding ovulation from ovarian follicle initiation of primordial ovarian follicle growth antral ovarian follicle growth oocyte maturation DNA binding DNA-binding transcription factor activity DNA-binding transcription factor activity protein binding nucleus nucleus nucleus nucleoplasm nucleoplasm cytoplasm cytoplasm mitochondrion mitochondrial outer membrane mitochondrial matrix cytosol cytosol regulation of transcription by RNA polymerase II transcription by RNA polymerase II mitochondrial transcription regulation of translation aging beta-catenin binding transcription factor binding insulin receptor signaling pathway cytokine-mediated signaling pathway protein kinase binding DNA damage response, signal transduction by p53 class mediator chromatin DNA binding response to nutrient levels protein-containing complex tumor necrosis factor-mediated signaling pathway mitochondrial sequence-specific DNA-binding transcription factor activity cellular response to oxidative stress glucose homeostasis positive regulation of apoptotic process positive regulation of neuron apoptotic process sequence-specific DNA binding sequence-specific DNA binding positive regulation of erythrocyte differentiation negative regulation of neuron differentiation positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II brain morphogenesis cellular response to glucose stimulus cellular response to corticosterone stimulus cellular response to hypoxia response to dexamethasone negative regulation of canonical Wnt signaling pathway neuronal stem cell population maintenance extrinsic apoptotic signaling pathway in absence of ligand positive regulation of hydrogen peroxide-mediated programmed cell death positive regulation of reactive oxygen species biosynthetic process cellular response to amyloid-beta cellular response to nerve growth factor stimulus response to water-immersion restraint stress regulation of neural precursor cell proliferation positive regulation of endothelial cell apoptotic process
Ontology : EGO-EBI	negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II RNA polymerase II proximal promoter sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcription cofactor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding ovulation from ovarian follicle initiation of primordial ovarian follicle growth antral ovarian follicle growth oocyte maturation DNA binding DNA-binding transcription factor activity DNA-binding transcription factor activity protein binding nucleus nucleus nucleus nucleoplasm nucleoplasm cytoplasm cytoplasm mitochondrion mitochondrial outer membrane mitochondrial matrix cytosol cytosol regulation of transcription by RNA polymerase II transcription by RNA polymerase II mitochondrial transcription regulation of translation aging beta-catenin binding transcription factor binding insulin receptor signaling pathway cytokine-mediated signaling pathway protein kinase binding DNA damage response, signal transduction by p53 class mediator chromatin DNA binding response to nutrient levels protein-containing complex tumor necrosis factor-mediated signaling pathway mitochondrial sequence-specific DNA-binding transcription factor activity cellular response to oxidative stress glucose homeostasis positive regulation of apoptotic process positive regulation of neuron apoptotic process sequence-specific DNA binding sequence-specific DNA binding positive regulation of erythrocyte differentiation negative regulation of neuron differentiation positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II brain morphogenesis cellular response to glucose stimulus cellular response to corticosterone stimulus cellular response to hypoxia response to dexamethasone negative regulation of canonical Wnt signaling pathway neuronal stem cell population maintenance extrinsic apoptotic signaling pathway in absence of ligand positive regulation of hydrogen peroxide-mediated programmed cell death positive regulation of reactive oxygen species biosynthetic process cellular response to amyloid-beta cellular response to nerve growth factor stimulus response to water-immersion restraint stress regulation of neural precursor cell proliferation positive regulation of endothelial cell apoptotic process
Pathways : KEGG	Chemokine signaling pathway FoxO signaling pathway PI3K-Akt signaling pathway Neurotrophin signaling pathway Prolactin signaling pathway Endometrial cancer Non-small cell lung cancer
NDEx Network	FOXO3
Atlas of Cancer Signalling Network	FOXO3
Wikipedia pathways	FOXO3
	Orthology - Evolution
OrthoDB	2309
GeneTree (enSembl)	ENSG00000118689
Phylogenetic Trees/Animal Genes : TreeFam	FOXO3
HOVERGEN	O43524
HOGENOM	O43524
Homologs : HomoloGene	FOXO3
Homology/Alignments : Family Browser (UCSC)	FOXO3
	Gene fusions - Rearrangements
Fusion : Mitelman	FOXO3/CHD7 [6q21/8q12.1]
Fusion : COSMIC	KMT2A [FOXO3] - 1795 [1796] [fusion_1813] [fusion_1814]
Fusion Portal	FOXO3 6q21 CHD7 8q12.1 BRCA
Fusion : TICdb	KMT2A [11q23.3] - FOXO3 [6q21]
Fusion : Quiver	FOXO3
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	FOXO3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	FOXO3
dbVar	FOXO3
ClinVar	FOXO3
1000_Genomes	FOXO3
Exome Variant Server	FOXO3
ExAC (Exome Aggregation Consortium)	ENSG00000118689
GNOMAD Browser	ENSG00000118689
Varsome Browser	FOXO3
Genetic variants : HAPMAP	2309
Genomic Variants (DGV)	FOXO3 [DGVbeta]
DECIPHER	FOXO3 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	FOXO3
	Mutations
ICGC Data Portal	FOXO3
TCGA Data Portal	FOXO3
Broad Tumor Portal	FOXO3
OASIS Portal	FOXO3 [ Somatic mutations - Copy number]
Cancer Gene: Census	FOXO3
Somatic Mutations in Cancer : COSMIC	FOXO3 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	FOXO3
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search FOXO3
DgiDB (Drug Gene Interaction Database)	FOXO3
DoCM (Curated mutations)	FOXO3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	FOXO3 (select a term)
intoGen	FOXO3
NCG5 (London)	FOXO3
Cancer3D	FOXO3(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	602681
Orphanet
DisGeNET	FOXO3
Medgen	FOXO3
Genetic Testing Registry	FOXO3
NextProt	O43524 [Medical]
TSGene	2309
GENETests	FOXO3
Target Validation	FOXO3
Huge Navigator	FOXO3 [HugePedia]
snp3D : Map Gene to Disease	2309
BioCentury BCIQ	FOXO3
ClinGen	FOXO3
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	2309
Chemical/Pharm GKB Gene	PA28239
Clinical trial	FOXO3
	Miscellaneous
canSAR (ICR)	FOXO3 (select the gene name)
	Probes
	Litterature
PubMed	499 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	FOXO3
EVEX	FOXO3
GoPubMed	FOXO3
iHOP	FOXO3

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Fri Oct 12 17:49:44 CEST 2018

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