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

Other names	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 108882069 and ends at 109005971 bp from pter ( according to hg19-Feb_2009) [Mapping FOXO3.png]


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

Fusion genes (updated 2016)	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 --> MLL - AF6q21
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) [ 3 ]

11q23 rearrangements (KMT2A) in leukaemia
i(6)(p10)
t(6;11)(q21;q23) KMT2A/FOXO3

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] chr6:108882069-109005971 [Contig_View] FOXO3 [Vega]
Ensembl hg38 (Hinxton)	ENSG00000118689 [Gene_View] chr6:108882069-109005971 [Contig_View] FOXO3 [Vega]
ICGC DataPortal	ENSG00000118689
TCGA cBioPortal	FOXO3
AceView (NCBI)	FOXO3
Genatlas (Paris)	FOXO3
WikiGenes	2309
SOURCE (Princeton)	FOXO3
	Genomic and cartography
GoldenPath hg19 (UCSC)	FOXO3 - chr6:108882069-109005971 + 6q21 [Description] (hg19-Feb_2009)
GoldenPath hg38 (UCSC)	FOXO3 - 6q21 [Description] (hg38-Dec_2013)
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)	NC_000006 NC_018917 NT_025741 NW_004929328
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]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	2309
GTEX Portal (Tissue expression)	FOXO3
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	O43524 (Uniprot)
NextProt	O43524 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	O43524
Splice isoforms : SwissVar	O43524 (Swissvar)
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 WHTH_DNA-bd_dom
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)
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	ENSG00000118689
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 from RNA polymerase II promoter negative regulation of transcription from RNA polymerase II promoter core promoter binding transcription cofactor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding ovulation from ovarian follicle initiation of primordial ovarian follicle growth antral ovarian follicle growth oocyte maturation DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm nucleoplasm cytoplasm cytosol regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter regulation of translation beta-catenin binding membrane protein kinase binding DNA damage response, signal transduction by p53 class mediator chromatin DNA binding tumor necrosis factor-mediated signaling pathway cellular response to oxidative stress glucose homeostasis positive regulation of apoptotic process positive regulation of neuron apoptotic process sequence-specific DNA binding positive regulation of erythrocyte differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of canonical Wnt signaling pathway neuronal stem cell population maintenance extrinsic apoptotic signaling pathway in absence of ligand regulation of neural precursor cell proliferation regulation of reactive oxygen species metabolic process
Ontology : EGO-EBI	negative regulation of transcription from RNA polymerase II promoter negative regulation of transcription from RNA polymerase II promoter core promoter binding transcription cofactor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding ovulation from ovarian follicle initiation of primordial ovarian follicle growth antral ovarian follicle growth oocyte maturation DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm nucleoplasm cytoplasm cytosol regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter regulation of translation beta-catenin binding membrane protein kinase binding DNA damage response, signal transduction by p53 class mediator chromatin DNA binding tumor necrosis factor-mediated signaling pathway cellular response to oxidative stress glucose homeostasis positive regulation of apoptotic process positive regulation of neuron apoptotic process sequence-specific DNA binding positive regulation of erythrocyte differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of canonical Wnt signaling pathway neuronal stem cell population maintenance extrinsic apoptotic signaling pathway in absence of ligand regulation of neural precursor cell proliferation regulation of reactive oxygen species metabolic process
Pathways : BIOCARTA	Role of nicotinic acetylcholine receptors in the regulation of apoptosis [Genes] PTEN dependent cell cycle arrest and apoptosis [Genes] The IGF-1 Receptor and Longevity [Genes] AKT Signaling Pathway [Genes]
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
REACTOME	O43524 [protein]
REACTOME Pathways	R-HSA-5687128 MAPK6/MAPK4 signaling [pathway]
REACTOME Pathways	R-HSA-198693 AKT phosphorylates targets in the nucleus [pathway]
REACTOME Pathways	R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer [pathway]
REACTOME Pathways	R-HSA-1181150 Signaling by NODAL [pathway]
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
Homologs : HomoloGene	FOXO3
Homology/Alignments : Family Browser (UCSC)	FOXO3
	Gene fusions - Rearrangements
Fusion : Mitelman	FOXO3/CHD7 [6q21/8q12.1]
Fusion : COSMIC	KMT2A [11q23.3] - FOXO3 [6q21] [fusion_1795] [fusion_1796] [fusion_1813] [fusion_1814]
Fusion: TCGA	FOXO3 6q21 CHD7 8q12.1 BRCA
Fusion : TICdb	KMT2A [11q23.3] - FOXO3 [6q21]
	Polymorphisms : SNP, 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)	FOXO3 (select the gene name)
Genetic variants : HAPMAP	2309
Genomic Variants (DGV)	FOXO3 [DGVbeta]
	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
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
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	6:108882069-109005971 ENSG00000118689
CONAN: Copy Number Analysis	FOXO3
Mutations and Diseases : HGMD	FOXO3
OMIM	602681
Medgen	FOXO3
Genetic Testing Registry	FOXO3
NextProt	O43524 [Medical]
TSGene	2309
GENETests	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	398 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 : Wed Sep 28 15:52:59 CEST 2016

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