FOXO4 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7)
2001-08-01 Stig E. Bojesen AffiliationDepartment of Clinical Biochemistry, Herlev University Hospital, Herlev Ringvej 75, Herlev DK-2730, Denmark
Identity
HGNC
LOCATION
Xq13.1
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
AFX1 (ALL1 fused gene from chromosome X, 1),MLLT7 (myeloid/lymphoid leukemia translocated to, 7),AFX,FOXO4
FUSION GENES
DNA/RNA
Transcription
7,5kb consisting of 3 exons. RNA App. 3.5 kb mRNA; coding sequence. Placental secondary transcript: App. 2.8kb Expression pattern: Heavily expressed in skeletal muscle, placenta and ovary
Proteins
Description
504 amino acids; NH2 -- similarity region with AF6q21 and FHKR -- forkhead motif -- COOH
Expression
wide
Localisation
nuclear
Function
Transcription factor binding to the motive TTGTTTAC. Target genes: Akt, AFX is able to induce Rb-independent, p27kip1-mediated G1-arrest. Phosphorylation of AFX by protein kinase B inhibits its transcriptional activity.
Homology
daf-16 (C.elegans) and other forkhead-transcription factors (i.e. FKHR, FKHRL1, FKHRP1, FKHRL1P1) and AF6q21, involved in the t(6;11)(q21;q23). In the fusion protein AFX/MLL, AFX fuses to MLL in the same aminoacid as FHKR fuses to PAX3 in the PAX3/FKHR-fusion protein of alveolar rabdomyosarcoma.
Implicated in
Entity name
Disease
AML, T-ALL
Prognosis
very poor
Hybrid gene
5 MLL-3 AFX as well as the reciprocal 5 AFX-3 MLL on DNA and mRNA level
Fusion protein
comprises about 1400 amino acids from N-term MLL and 354 amino acids from AFX C-term; the reciprocal may be expressed
Breakpoints
Article Bibliography
Other Information
Locus ID:
NCBI: 4303
MIM: 300033
HGNC: 7139
Ensembl: ENSG00000184481
Variants:
dbSNP: 4303
ClinVar: 4303
TCGA: ENSG00000184481
COSMIC: FOXO4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
Citation
Stig E. Bojesen
FOXO4 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7)
Atlas Genet Cytogenet Oncol Haematol. 2001-08-01
Online version: http://atlasgeneticsoncology.org/gene/57/foxo4-(myeloid-lymphoid-or-mixed-lineage-leukemia-(trithorax-homolog-drosophila);-translocated-to-7)
Historical Card
1998-04-01 FOXO4 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7) by Olivier Bernard Affiliation
Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France