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FOXO3 (forkhead box O3A)

Written1998-04Olivier Bernard
Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France

(Note : for Links provided by Atlas : click)

Identity

Other namesAF6q21 (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
AtlasAF6q21ID125
Entrez_Gene (NCBI)FOXO3  2309  forkhead box O3
AliasesAF6q21; 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 DataPortalENSG00000118689
TCGA cBioPortalFOXO3
AceView (NCBI)FOXO3
Genatlas (Paris)FOXO3
WikiGenes2309
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)
EnsemblFOXO3 - 6q21 [CytoView hg19]  FOXO3 - 6q21 [CytoView hg38]
Mapping of homologs : NCBIFOXO3 [Mapview hg19]  FOXO3 [Mapview hg38]
OMIM602681   
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 : UnigeneHs.220950 [ NCBI ]
CGAP (NCI)Hs.220950
Alternative Splicing GalleryENSG00000118689
Gene ExpressionFOXO3 [ 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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2309
GTEX Portal (Tissue expression)FOXO3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43524 (Uniprot)
NextProtO43524  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43524
Splice isoforms : SwissVarO43524 (Swissvar)
PhosPhoSitePlusO43524
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 mutations2309
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 KnowledgeBase2K86    2LQH    2LQI    2UZK   
SCOP (Structural Classification of Proteins)2K86    2LQH    2LQI    2UZK   
CATH (Classification of proteins structures)2K86    2LQH    2LQI    2UZK   
SuperfamilyO43524
Human Protein AtlasENSG00000118689
Peptide AtlasO43524
HPRD04061
IPIIPI00878632   
Protein Interaction databases
DIP (DOE-UCLA)O43524
IntAct (EBI)O43524
FunCoupENSG00000118689
BioGRIDFOXO3
STRING (EMBL)FOXO3
ZODIACFOXO3
Ontologies - Pathways
QuickGOO43524
Ontology : AmiGOnegative 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-EBInegative 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 : BIOCARTARole 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 : KEGGChemokine signaling pathway    FoxO signaling pathway    PI3K-Akt signaling pathway    Neurotrophin signaling pathway    Prolactin signaling pathway    Endometrial cancer    Non-small cell lung cancer   
REACTOMEO43524 [protein]
REACTOME PathwaysR-HSA-5687128 MAPK6/MAPK4 signaling [pathway]
REACTOME PathwaysR-HSA-198693 AKT phosphorylates targets in the nucleus [pathway]
REACTOME PathwaysR-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer [pathway]
REACTOME PathwaysR-HSA-1181150 Signaling by NODAL [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkFOXO3
Wikipedia pathwaysFOXO3
Orthology - Evolution
OrthoDB2309
GeneTree (enSembl)ENSG00000118689
Phylogenetic Trees/Animal Genes : TreeFamFOXO3
Homologs : HomoloGeneFOXO3
Homology/Alignments : Family Browser (UCSC)FOXO3
Gene fusions - Rearrangements
Fusion : MitelmanFOXO3/CHD7 [6q21/8q12.1]  
Fusion : COSMICKMT2A [11q23.3]  -  FOXO3 [6q21]  [fusion_1795]  [fusion_1796]  [fusion_1813]  [fusion_1814]  
Fusion: TCGAFOXO3 6q21 CHD7 8q12.1 BRCA
Fusion : TICdbKMT2A [11q23.3]  -  FOXO3 [6q21]
Polymorphisms : SNP, variants
NCBI Variation ViewerFOXO3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FOXO3
dbVarFOXO3
ClinVarFOXO3
1000_GenomesFOXO3 
Exome Variant ServerFOXO3
ExAC (Exome Aggregation Consortium)FOXO3 (select the gene name)
Genetic variants : HAPMAP2309
Genomic Variants (DGV)FOXO3 [DGVbeta]
Mutations
ICGC Data PortalFOXO3 
TCGA Data PortalFOXO3 
Broad Tumor PortalFOXO3
OASIS PortalFOXO3 [ Somatic mutations - Copy number]
Cancer Gene: CensusFOXO3 
Somatic Mutations in Cancer : COSMICFOXO3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch 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)
intoGenFOXO3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:108882069-109005971  ENSG00000118689
CONAN: Copy Number AnalysisFOXO3 
Mutations and Diseases : HGMDFOXO3
OMIM602681   
MedgenFOXO3
Genetic Testing Registry FOXO3
NextProtO43524 [Medical]
TSGene2309
GENETestsFOXO3
Huge Navigator FOXO3 [HugePedia]
snp3D : Map Gene to Disease2309
BioCentury BCIQFOXO3
ClinGenFOXO3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2309
Chemical/Pharm GKB GenePA28239
Clinical trialFOXO3
Miscellaneous
canSAR (ICR)FOXO3 (select the gene name)
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed398 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFOXO3
EVEXFOXO3
GoPubMedFOXO3
iHOPFOXO3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Aug 10 18:47:17 CEST 2016

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