FOXO4 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7)

2001-08-01   Stig E. Bojesen  

Department of Clinical Biochemistry, Herlev University Hospital, Herlev Ringvej 75, Herlev DK-2730, Denmark

Identity

HGNC
LOCATION
Xq13.1
IMAGE
Atlas 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
t(X;11)(q13q23)/acute leukaemias --> KMT2A - FOXO4
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

Atlas Image

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)

0
10
20
30
40
50
60

Pathways

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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 

Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France