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
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9010221 | 1997 | Cloning and characterization of AFX, the gene that fuses to MLL in acute leukemias with a t(X;11)(q13;q23). | Borkhardt A et al |
| 10217147 | 1999 | Direct control of the Forkhead transcription factor AFX by protein kinase B. | Kops GJ et al |
| 10783894 | 2000 | AFX-like Forkhead transcription factors mediate cell-cycle regulation by Ras and PKB through p27kip1. | Medema RH et al |
| 7529552 | 1994 | Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family. | Parry P et al |
| 9341872 | 1997 | AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism. | Peters U et al |
Other Information
Locus ID:
NCBI: 4303
MIM: 300033
HGNC: 7139
Ensembl: ENSG00000184481
Variants:
dbSNP: 4303
ClinVar: 4303
TCGA: ENSG00000184481
COSMIC: FOXO4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000184481 | ENST00000341558 | P98177 |
| ENSG00000184481 | ENST00000374259 | P98177 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38037460 | 2024 | CBP-mediated FOXO4 acetylation facilitates postmenopausal osteoporosis (PMO) progression through the inhibition of the Wnt/β-catenin signaling pathway. | 0 |
| 38037460 | 2024 | CBP-mediated FOXO4 acetylation facilitates postmenopausal osteoporosis (PMO) progression through the inhibition of the Wnt/β-catenin signaling pathway. | 0 |
| 37861000 | 2023 | Smurf2-Mediated Ubiquitination of FOXO4 Regulates Oxygen-glucose Deprivation/Reperfusion-induced Pyroptosis of Cortical Neurons. | 1 |
| 37861000 | 2023 | Smurf2-Mediated Ubiquitination of FOXO4 Regulates Oxygen-glucose Deprivation/Reperfusion-induced Pyroptosis of Cortical Neurons. | 1 |
| 34954873 | 2022 | Biophysical investigation of the dual binding surfaces of human transcription factors FOXO4 and p53. | 6 |
| 36042628 | 2022 | Correlations of ALD, Keap-1, and FoxO4 expression with traditional tumor markers and clinicopathological characteristics in colorectal carcinoma. | 0 |
| 36700213 | 2022 | The role of FOXO4/NFAT2 signaling pathway in dysfunction of human coronary endothelial cells and inflammatory infiltration of vasculitis in Kawasaki disease. | 3 |
| 34954873 | 2022 | Biophysical investigation of the dual binding surfaces of human transcription factors FOXO4 and p53. | 6 |
| 36042628 | 2022 | Correlations of ALD, Keap-1, and FoxO4 expression with traditional tumor markers and clinicopathological characteristics in colorectal carcinoma. | 0 |
| 36700213 | 2022 | The role of FOXO4/NFAT2 signaling pathway in dysfunction of human coronary endothelial cells and inflammatory infiltration of vasculitis in Kawasaki disease. | 3 |
| 32847377 | 2021 | Metabolic Regulation of Stem Cells and Differentiation: A Forkhead Box O Transcription Factor Perspective. | 25 |
| 33211221 | 2021 | miR-617 Promotes the Growth of IL-22-Stimulated Keratinocytes Through Regulating FOXO4 Expression. | 3 |
| 33463054 | 2021 | Hypoxia-induced FOXO4/LDHA axis modulates gastric cancer cell glycolysis and progression. | 23 |
| 33577016 | 2021 | Deacetylation of FOXO4 by Sirt1 stabilizes chondrocyte extracellular matrix upon activating SOX9. | 7 |
| 33649837 | 2021 | lncRNA MEG3 inhibits pituitary tumor development by participating in cell proliferation, apoptosis and EMT processes. | 7 |
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
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
