Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

FOXO3 (forkhead box O3A)

Identity

Other namesAF6q21 (ALL1 fused gene from chromosome 6q21)
FKHRL1 (forkhead homolog rhabdomyosarcoma like 1)
HGNC (Hugo) FOXO3
LocusID (NCBI) 2309
Location 6q21
Location_base_pair Starts at 108882069 and ends at 109005971 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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

Entity t(6;11)(q21;q23)/ANLL --> MLL - AF6q21
Disease treatment related ANLL, 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
  

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

Leukemias 11q23ChildAMLID1615 11q23ID1030

External links

Nomenclature
HGNC (Hugo)FOXO3   3821
Cards
AtlasAF6q21ID125
Entrez_Gene (NCBI)FOXO3  2309  forkhead box O3
GeneCards (Weizmann)FOXO3
Ensembl (Hinxton)ENSG00000118689 [Gene_View]  chr6:108882069-109005971 [Contig_View]  FOXO3 [Vega]
ICGC DataPortalENSG00000118689
cBioPortalFOXO3
AceView (NCBI)FOXO3
Genatlas (Paris)FOXO3
WikiGenes2309
SOURCE (Princeton)NM_001455 NM_201559
Genomic and cartography
GoldenPath (UCSC)FOXO3  -  6q21   chr6:108882069-109005971 +  6q21   [Description]    (hg19-Feb_2009)
EnsemblFOXO3 - 6q21 [CytoView]
Mapping of homologs : NCBIFOXO3 [Mapview]
OMIM602681   
Gene and transcription
Genbank (Entrez)AB072905 AF032886 AI554317 AJ001589 AK024103
RefSeq transcript (Entrez)NM_001455 NM_201559
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NT_025741 NW_001838990 NW_004929328
Consensus coding sequences : CCDS (NCBI)FOXO3
Cluster EST : UnigeneHs.220950 [ NCBI ]
CGAP (NCI)Hs.220950
Alternative Splicing : Fast-db (Paris)GSHG0025944
Alternative Splicing GalleryENSG00000118689
Gene ExpressionFOXO3 [ NCBI-GEO ]     FOXO3 [ SEEK ]   FOXO3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43524 (Uniprot)
NextProtO43524  [Medical]
With graphics : InterProO43524
Splice isoforms : SwissVarO43524 (Swissvar)
Domaine pattern : Prosite (Expaxy)FORK_HEAD_2 (PS00658)    FORK_HEAD_3 (PS50039)   
Domains : Interpro (EBI)TF_fork_head [organisation]   TF_fork_head_CS [organisation]   WHTH_DNA-bd_dom [organisation]  
Related proteins : CluSTrO43524
Domain families : Pfam (Sanger)Fork_head (PF00250)   
Domain families : Pfam (NCBI)pfam00250   
Domain families : Smart (EMBL)FH (SM00339)  
DMDM Disease mutations2309
Blocks (Seattle)O43524
PDB (SRS)2K86    2LQH    2LQI    2UZK   
PDB (PDBSum)2K86    2LQH    2LQI    2UZK   
PDB (IMB)2K86    2LQH    2LQI    2UZK   
PDB (RSDB)2K86    2LQH    2LQI    2UZK   
Human Protein AtlasENSG00000118689 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO43524
HPRD04061
IPIIPI00878632   
Protein Interaction databases
DIP (DOE-UCLA)O43524
IntAct (EBI)O43524
FunCoupENSG00000118689
BioGRIDFOXO3
InParanoidO43524
Interologous Interaction database O43524
IntegromeDBFOXO3
STRING (EMBL)FOXO3
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  core promoter binding  ovulation from ovarian follicle  initiation of primordial ovarian follicle growth  antral ovarian follicle growth  oocyte maturation  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  regulation of translation  epidermal growth factor receptor signaling pathway  fibroblast growth factor receptor signaling pathway  membrane  protein kinase binding  DNA damage response, signal transduction by p53 class mediator  chromatin DNA binding  cellular response to oxidative stress  Fc-epsilon receptor signaling pathway  glucose homeostasis  positive regulation of neuron apoptotic process  sequence-specific DNA binding  innate immune response  positive regulation of erythrocyte differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  neurotrophin TRK receptor signaling pathway  phosphatidylinositol-mediated signaling  extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  core promoter binding  ovulation from ovarian follicle  initiation of primordial ovarian follicle growth  antral ovarian follicle growth  oocyte maturation  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  regulation of translation  epidermal growth factor receptor signaling pathway  fibroblast growth factor receptor signaling pathway  membrane  protein kinase binding  DNA damage response, signal transduction by p53 class mediator  chromatin DNA binding  cellular response to oxidative stress  Fc-epsilon receptor signaling pathway  glucose homeostasis  positive regulation of neuron apoptotic process  sequence-specific DNA binding  innate immune response  positive regulation of erythrocyte differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  neurotrophin TRK receptor signaling pathway  phosphatidylinositol-mediated signaling  extrinsic apoptotic signaling pathway in absence of ligand  
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   
Protein Interaction DatabaseFOXO3
Wikipedia pathwaysFOXO3
Gene fusion - rearrangments
Rearrangement : TICdbKMT2A [11q23.3]  -  FOXO3 [3p21.31]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FOXO3
snp3D : Map Gene to Disease2309
SNP (GeneSNP Utah)FOXO3
SNP : HGBaseFOXO3
Genetic variants : HAPMAPFOXO3
Exome VariantFOXO3
1000_GenomesFOXO3 
ICGC programENSG00000118689 
Cancer Gene: CensusFOXO3 
Somatic Mutations in Cancer : COSMICFOXO3 
CONAN: Copy Number AnalysisFOXO3 
Mutations and Diseases : HGMDFOXO3
Mutations and Diseases : intOGenFOXO3
Genomic VariantsFOXO3  FOXO3 [DGVbeta]
dbVarFOXO3
ClinVarFOXO3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM602681   
MedgenFOXO3
GENETestsFOXO3
Disease Genetic AssociationFOXO3
Huge Navigator FOXO3 [HugePedia]  FOXO3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneFOXO3
Homology/Alignments : Family Browser (UCSC)FOXO3
Phylogenetic Trees/Animal Genes : TreeFamFOXO3
Chemical/Protein Interactions : CTD2309
Chemical/Pharm GKB GenePA28239
Clinical trialFOXO3
Cancer Resource (Charite)ENSG00000118689
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed306 Pubmed reference(s) in Entrez
CoreMineFOXO3
iHOPFOXO3
OncoSearchFOXO3

Bibliography

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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written04-1998Olivier Bernard

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/AF6q21ID125.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 15:24:57 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.