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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

Alias_namesFKHRL1
FOXO3A
Alias_symbol (synonym)AF6q21
FOXO2
Other aliasAF6q21 (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)

Leukemias del6qID1248 t0611q21q23ID1128

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

Solid Tumors TT_t0608q21q12ID107339

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]
Ensembl hg38 (Hinxton)ENSG00000118689 [Gene_View]  ENSG00000118689 [Sequence]  chr6:108559823-108684768 [Contig_View]  FOXO3 [Vega]
ICGC DataPortalENSG00000118689
TCGA cBioPortalFOXO3
AceView (NCBI)FOXO3
Genatlas (Paris)FOXO3
WikiGenes2309
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)
GoldenPathFOXO3 - 6q21 [CytoView hg19]  FOXO3 - 6q21 [CytoView hg38]
ImmunoBaseENSG00000118689
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)
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2309
GTEX Portal (Tissue expression)FOXO3
Human Protein AtlasENSG00000118689-FOXO3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43524   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43524  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43524
Splice isoforms : SwissVarO43524
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    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 mutations2309
Blocks (Seattle)FOXO3
PDB (RSDB)2K86    2LQH    2LQI    2UZK   
PDB Europe2K86    2LQH    2LQI    2UZK   
PDB (PDBSum)2K86    2LQH    2LQI    2UZK   
PDB (IMB)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 Atlas [tissue]ENSG00000118689-FOXO3 [tissue]
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 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  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  transcription cofactor binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  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  mitochondrial transcription  regulation of translation  aging  beta-catenin binding  transcription factor binding  insulin receptor signaling pathway  positive regulation of autophagy  positive regulation of muscle atrophy  cytokine-mediated signaling pathway  protein kinase binding  DNA damage response, signal transduction by p53 class mediator  negative regulation of cell migration  chromatin DNA binding  protein-containing complex  tumor necrosis factor-mediated signaling pathway  mitochondrial sequence-specific DNA-binding transcription factor activity  cellular response to oxidative stress  glucose homeostasis  response to starvation  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-EBInegative 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  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  transcription cofactor binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  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  mitochondrial transcription  regulation of translation  aging  beta-catenin binding  transcription factor binding  insulin receptor signaling pathway  positive regulation of autophagy  positive regulation of muscle atrophy  cytokine-mediated signaling pathway  protein kinase binding  DNA damage response, signal transduction by p53 class mediator  negative regulation of cell migration  chromatin DNA binding  protein-containing complex  tumor necrosis factor-mediated signaling pathway  mitochondrial sequence-specific DNA-binding transcription factor activity  cellular response to oxidative stress  glucose homeostasis  response to starvation  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 : KEGGChemokine signaling pathway    FoxO signaling pathway    PI3K-Akt signaling pathway    Neurotrophin signaling pathway    Prolactin signaling pathway    Endometrial cancer    Non-small cell lung cancer   
NDEx NetworkFOXO3
Atlas of Cancer Signalling NetworkFOXO3
Wikipedia pathwaysFOXO3
Orthology - Evolution
OrthoDB2309
GeneTree (enSembl)ENSG00000118689
Phylogenetic Trees/Animal Genes : TreeFamFOXO3
HOGENOMO43524
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_1813]  
Fusion PortalFOXO3 6q21 CHD7 8q12.1 BRCA
Fusion : TICdbKMT2A [11q23.3]  -  FOXO3 [6q21]
Fusion : FusionGDB13821    13822    13823    13824    15559    24038    28241    28388   
Fusion : Fusion_HubFOXO3--ARID1B    FOXO3--ARMC2    FOXO3--CAMTA1    FOXO3--CHD7    FOXO3--FOXN3    FOXO3--FXR1    FOXO3--FYN    FOXO3--GPR133    FOXO3--GPR6    FOXO3--IMMP2L    FOXO3--IPCEF1    FOXO3--KMT2A    FOXO3--LACE1    FOXO3--LINC00222    FOXO3--LYZ   
FOXO3--MICAL1    FOXO3--MLL    FOXO3--MORF4L2    FOXO3--MYC    FOXO3--NT5DC1    FOXO3--PDSS2    FOXO3--PPP1R9A    FOXO3--PSMB1    FOXO3--RERE    FOXO3--RNF146    FOXO3--SEPT1    FOXO3--SESN1    FOXO3--SNX3    FOXO3--ZNF462    GSN--FOXO3   
HSPH1--FOXO3    ISCU--FOXO3    KMT2A--FOXO3    MLL--FOXO3    NEMF--FOXO3    PPM1G--FOXO3    REPS1--FOXO3    SSH1--FOXO3   
Fusion : QuiverFOXO3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFOXO3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FOXO3
dbVarFOXO3
ClinVarFOXO3
1000_GenomesFOXO3 
Exome Variant ServerFOXO3
ExAC (Exome Aggregation Consortium)ENSG00000118689
GNOMAD BrowserENSG00000118689
Varsome BrowserFOXO3
Genetic variants : HAPMAP2309
Genomic Variants (DGV)FOXO3 [DGVbeta]
DECIPHERFOXO3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFOXO3 
Mutations
ICGC Data PortalFOXO3 
TCGA Data PortalFOXO3 
Broad Tumor PortalFOXO3
OASIS PortalFOXO3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFOXO3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFOXO3
Mutations and Diseases : HGMDFOXO3
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
NCG5 (London)FOXO3
Cancer3DFOXO3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602681   
Orphanet
DisGeNETFOXO3
MedgenFOXO3
Genetic Testing Registry FOXO3
NextProtO43524 [Medical]
TSGene2309
GENETestsFOXO3
Target ValidationFOXO3
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)
DataMed IndexFOXO3
Probes
Litterature
PubMed499 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

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