FOXO3 (forkhead box O3A)

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FOXO3 (forkhead box O3A)

Identity

Other names	AF6q21 (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

External links

	Nomenclature
HGNC (Hugo)	FOXO3 3821
Entrez_Gene (NCBI)	FOXO3 2309 forkhead box O3
	Cards
Atlas	AF6q21ID125
GeneCards (Weizmann)	FOXO3
Ensembl (Hinxton)	ENSG00000118689 [Gene_View] chr6:108882069-109005971 [Contig_View] FOXO3 [Vega]
AceView (NCBI)	FOXO3
Genatlas (Paris)	FOXO3
SOURCE (Stanford)	NM_001455 NM_201559
	Genomic and cartography
GoldenPath (UCSC)	FOXO3 - 6q21 chr6:108882069-109005971 + 6q21 [Description] (hg19-Feb_2009)
Ensembl	FOXO3 - 6q21 [CytoView]
Mapping of homologs : NCBI	FOXO3 [Mapview]
OMIM	602681
	Gene and transcription
Genbank (Entrez)	AB072905 AF032886 AI554317 AJ001589 AK024103
RefSeq transcript (SRS)	NM_001455 NM_201559
RefSeq transcript (Entrez)	NM_001455 NM_201559
RefSeq genomic (SRS)	AC_000138 NC_000006 NC_018917 NT_025741 NW_001838990 NW_004078028
RefSeq genomic (Entrez)	AC_000138 NC_000006 NC_018917 NT_025741 NW_001838990 NW_004078028
Consensus coding sequences : CCDS (NCBI)	FOXO3
Cluster EST : Unigene	Hs.220950 [ SRS ] Hs.220950 [ NCBI ]
CGAP (NCI)	Hs.220950
Alternative Splicing : Fast-db (Paris)	GSHG0025944
Alternative Splicing Gallery	ENSG00000118689
Gene Expression	FOXO3 [ NCBI-GEO ] FOXO3 [ EBI - ARRAY_EXPRESS ]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	O43524 (SRS) O43524 (Uniprot)
NextProt	O43524
With graphics : InterPro	O43524
Splice isoforms : SwissVar	O43524(Swissvar)
Domaine pattern : Prosite (SRS)	FORK_HEAD_1 (PS00657) FORK_HEAD_2 (PS00658) FORK_HEAD_3 (PS50039)
Domaine pattern : Prosite (Expaxy)	FORK_HEAD_1 (PS00657) FORK_HEAD_2 (PS00658) FORK_HEAD_3 (PS50039)
Domains : Interpro (SRS)	TF_fork_head TF_fork_head_CS WHTH_trsnscrt_rep_DNA-bd
Domains : Interpro (EBI)	TF_fork_head TF_fork_head_CS WHTH_trsnscrt_rep_DNA-bd
Related proteins : CluSTr	O43524
Domain families : Pfam (SRS)	Fork_head (PF00250)
Domain families : Pfam (Sanger)	Fork_head (PF00250)
Domain families : Pfam (NCBI)	pfam00250
Domain families : Smart (EMBL)	FH (SM00339)
DMDM	2309
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 Atlas	ENSG00000118689
HPRD	04061
IPI	IPI00878632
	Protein Interaction databases
DIP (DOE-UCLA)	O43524
IntAct (EBI)	O43524
FunCoup	ENSG00000118689
REACTOME	FOXO3
Protein Interaction Database	2309
BioGRID	FOXO3
InParanoid	O43524
Interologous Interaction database	O43524
IntegromeDB	FOXO3
	Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)	FOXO3
SNP (GeneSNP Utah)	FOXO3
SNP : HGBase	FOXO3
Genetic variants : HAPMAP	FOXO3
Somatic Mutations in Cancer : COSMIC	FOXO3
CONAN: Copy Number Analysis	FOXO3
Translocation Breakpoints in Cancer : TICdb	FOXO3
Mutations and Diseases : HGMD	FOXO3
OMIM	602681
GENETests	602681
Disease Genetic Association	FOXO3
Huge Navigator	FOXO3 [HugePedia] FOXO3 [HugeCancerGEM]
Genomic Variants	FOXO3 FOXO3 [DGVbeta]
snp3D : Map Gene to Disease	2309
	General knowledge
Homologs : HomoloGene	FOXO3
Homology/Alignments : Family Browser (UCSC)	FOXO3
Phylogenetic Trees/Animal Genes : TreeFam	FOXO3
Chemical/Protein Interactions : CTD	2309
Chemical/Pharm GKB Gene	PA28239
Clinical trial	FOXO3
Cancer Resource (Charite)	ENSG00000118689
Ontology : AmiGO	negative regulation of transcription from RNA polymerase II promoter ovulation from ovarian follicle initiation of primordial ovarian follicle growth antral ovarian follicle growth oocyte maturation DNA binding double-stranded DNA binding sequence-specific DNA binding transcription factor activity RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol regulation of translation apoptotic process induction of apoptosis response to stress response to DNA damage stimulus epidermal growth factor receptor signaling pathway pattern specification process transcription factor binding insulin receptor signaling pathway DNA binding, bending fibroblast growth factor receptor signaling pathway embryo development tissue development protein kinase binding DNA damage response, signal transduction by p53 class mediator regulation of cell proliferation glucose homeostasis sequence-specific DNA binding positive regulation of erythrocyte differentiation positive regulation of transcription, DNA-dependent positive regulation of transcription from RNA polymerase II promoter nerve growth factor receptor signaling pathway phosphatidylinositol-mediated signaling regulation of sequence-specific DNA binding transcription factor activity
Ontology : EGO-EBI	negative regulation of transcription from RNA polymerase II promoter ovulation from ovarian follicle initiation of primordial ovarian follicle growth antral ovarian follicle growth oocyte maturation DNA binding double-stranded DNA binding sequence-specific DNA binding transcription factor activity RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol regulation of translation apoptotic process induction of apoptosis response to stress response to DNA damage stimulus epidermal growth factor receptor signaling pathway pattern specification process transcription factor binding insulin receptor signaling pathway DNA binding, bending fibroblast growth factor receptor signaling pathway embryo development tissue development protein kinase binding DNA damage response, signal transduction by p53 class mediator regulation of cell proliferation glucose homeostasis sequence-specific DNA binding positive regulation of erythrocyte differentiation positive regulation of transcription, DNA-dependent positive regulation of transcription from RNA polymerase II promoter nerve growth factor receptor signaling pathway phosphatidylinositol-mediated signaling regulation of sequence-specific DNA binding transcription factor activity
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]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
	Litterature
PubMed	243 Pubmed reference(s) in Entrez
PubGene	FOXO3
iHOP	FOXO3

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

Search in all EBI NCBI

Contributor(s)

Written	04-1998	Olivier Bernard

Citation
This paper should be referenced as such :
Bernard O . FOXO3 (forkhead box O3A). Atlas Genet Cytogenet Oncol Haematol. April 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/AF6q21ID125.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37427/1/04-1998-AF6q21ID125.pdf [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:55:44 CEST 2013

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